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15q11.1-q13.1CNV Type: Duplication


Largest CNV size: 8476200 bp

Statistics Box:
Number of Reports: 7



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 7967279
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 8652996
 0
 5
 5
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 8880000
 0
 1
 1
 tan_14_ASD/DD_discovery_cases
 Participants of a study to identify genomic imbalance in patients with developmental delay/multiple congenital anomalies recruited from the genetics outpatient clinics of the KK Women's and Children's Hospital, Singapore.
 2
 Both cases with developmental delay; one case with additional diagnosis of ASD (diagnostic tools not reported)
 Range, 2 yrs.-5 yrs. 8 mos.
 50% Male
 7846091
 0
 2
 2
 urraca_13_ASD_discovery_cases
 Subjects with interstitial 15q11-q13 duplications recruited through the Dup15 Alliance
 14
 11 subjects with a diagnosis of autism or ASD, 1 subject with a diagnosis of ADHD
 Range, 3-16 yrs.
 57.14% Male
 8700000
 0
 3
 3
 wintle_10_ASD_discovery_cases
 Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
 34
 26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
 Mean, 25.97 18.93
 73.53% Male
 8476200
 0
 2
 2
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 9159499
 0
 7
 7

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 wintle_10_ASD_discovery_controls_2
 Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
 2357
 Controls
 
 51.3% Male
 8476200
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 aCGH (Agilent hotspot 2x400K)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 tan_14_ASD/DD_discovery_cases
  1 Malay, 1 Chinese
 aCGH
  Agilent 400K
 
 Agilent Feature Extraction v10.7.31, Agilent Genomic Workbench Lite (edition 6.0.130.24)
 qPCR
 urraca_13_ASD_discovery_cases
  10 Caucasian, 2 African-American, 1 Hispanic, 1 Pacific Islander
 aCGH, array SNP
  Signature Genomics SignatureChipOS array, Affymetrix 6.0
 
 
 None
 wintle_10_ASD_discovery_cases
  31 European, 2 East Asian, 1 African
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Human 1M-duo
 PennCNV, Birdsuite, iPattern
 QuantiSNP, Affymetrix Genotyping Console
 Solid phase hybridization
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  wintle_10_ASD_discovery_controls_2
  99% European
  N/A
  N/A
  N/A
  N/A
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_13b_ASD_discovery_cases-19305103869
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 19794747
 28307898
  8513152
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001692
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19879749
 28918517
  9038769
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001818
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19879749
 28918517
  9038769
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002353
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19905469
 28163751
  8258283
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004324
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19879750
 27933279
  8053530
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005402
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19879749
 28702163
  8822415
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU3510301
 N/A
 M
 ASD
 
 
 19839089
 28679259
  8840171
 GRCh38
 Duplication
 No
  tan_14_ASD/DD_discovery_cases-case2
 2 yrs.
 F
 Developmental delay
 Birth/neonatal history: born at 39 weeks gestation; birth weight of 3234 g, length of 45.5 cm, and head circumference of 32 cm; Apgar scores of 9 at both 1 and 5 minutes. Developmental milestones: noted to have gross motor delay at 9 months of age; able to walk without support but unable to speak clear words at age of 2 years; assessment using the Age and States Questionnaire, Third Edition, showed normal scores for fine motor and personal-social skills, borderline score in communication skills, and significant delays in gross motor and problem-solving skills. Motor and musculoskeletal evaluation: truncal hypotonia. Dysmorphic features: protruding tongue, hypertelorism, truncal pigmentation, irregular pigmentation on lower limbs. Growth parameters: height 90th %ile, weight 90th %ile, head circumference 97th %ile. Family history: third child of non-consanguineous marriage with no family history of autism or learning impairment; mother was 28 years old and father 29 years old at time of birth. Karyotype: 47, XX, +mar.ish del (15)(q12)(SNRPN+, D15Z1+)[14]/47,XX,+mar.ish psu ids(15;15)(SNRPN++,D15Z1++)[4].
 Developmental delay
 19897288
 28289905
  8392618
 GRCh38
 Triplication
 Yes
  urraca_13_ASD_discovery_cases-case801-002
 7 yrs. 11 mos.
 M
 ASD
 ADOS calibrated severity score: 6. EEG: variant. Dysmorphic features: short nose, anteverted nares, long philtrum, wide mouth. Other findings: relaxed facial muscles. Neurological findings: attention deficit.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 79
 N/A
 N/A
  8200000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-010
 5 yrs. 4 mos.
 M
 Autism
 ADOS calibrated severity score: 6. EEG: variant. Dysmorphic features: broad forehead, long palpebral fissures, short nose, wide nasal bridge, anteverted nares, long philtrum, thin upper lip, pointed chin.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 86
 N/A
 N/A
  8100000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-019
 5 yrs. 4 mos.
 M
 Autism
 ADOS calibrated severity score: 10. EEG: N/A. Other findings: torticollis. Neurological findings: hypotonia.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): incomplete
 N/A
 N/A
  8700000
 GRCh37
 Duplication
 No
  wintle_10_ASD_discovery_cases-AN09402
 11
 M
 Autism
 Suspected autism
 
 19811075
 28708350
  8897276
 GRCh38
 Duplication
 Yes
  wintle_10_ASD_discovery_cases-AN14762
 9
 M
 15q duplication
 Unknown
 
 19811075
 28697896
  8886822
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-case1-0556-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 19794748
 28914297
  9119550
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-case1-0611-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 20101748
 28667354
  8565607
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-case2-1288-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: Isodentric Chromosome 15, hypothyroid condition
 
 19794748
 28667854
  8873107
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-caseAU3371301
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 19995748
 28667854
  8672107
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU3371303
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 19995748
 28667854
  8672107
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU3371305
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 19993748
 28667854
  8674107
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU3702307
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A. Additional genetic information: 4 copies of 15q11-q13 region.
 
 19794748
 28914297
  9119550
 GRCh38
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_13b_ASD_discovery_cases-19305103869
 aCGH (Agilent hotspot 2x400K)
 
 Unknown
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001692
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001818
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002353
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004324
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,SNHG14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005402
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 leppa_16_ASD_discovery_cases-AU3510301
 
 
 De novo
 Simplex
 Possibly segregated
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 tan_14_ASD/DD_discovery_cases-case2
 qPCR
 
 Unknown
 Simplex
 Unknown
 IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 urraca_13_ASD_discovery_cases-case801-002
 
 
 De novo, maternal chromosome
 Unknown
 Likely segregated
 
 
 urraca_13_ASD_discovery_cases-case801-010
 
 
 De novo, maternal chromosome
 Unknown
 Likely segregated
 
 
 urraca_13_ASD_discovery_cases-case801-019
 
 
 De novo, maternal chromosome
 Unknown
 Likely segregated
 
 
 wintle_10_ASD_discovery_cases-AN09402
 Solid phase hybridization (Illumina Human 1M-duo)
 
 Unknown
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 wintle_10_ASD_discovery_cases-AN14762
 Solid phase hybridization (Illumina Human 1M-duo)
 
 Unknown
 Unknown
 Unknown
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-case1-0556-003
 Illumina OMNI 2.5M
 
 De novo
 Simplex
 Segregated
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-case1-0611-003
 Affymetrix CytoScan HD
 
 Unknown
 Simplex
 Unknown
 BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-case2-1288-003
 Affymetrix CytoScan HD
 
 Putative De novo
 Simplex
 Possibly segregated
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-caseAU3371301
 Not available
 
 Maternal
 Multiplex
 Possibly segregated
 IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-caseAU3371303
 Not available
 
 Maternal
 Multiplex
 Possibly segregated
 IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-caseAU3371305
 Not available
 
 Maternal
 Multiplex
 Possibly segregated
 IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 yuen_17_ASD_discovery_cases-caseAU3702307
 Not available
 
 De novo
 Multiplex
 Not segregated
 RNU6-978P,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
 

Controls

No Control Data Available
No Animal Model Data Available
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