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7q34-q36.3CNV Type: Deletion


Largest CNV size: 17610871 bp

Statistics Box:
Number of Reports: 4


Summary Information

Among the genes that reside within this large deletion, which was identified in an autistic individual, is DPP6.

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 15954867
 1
 0
 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
 20066728
 3
 1
 4
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 17610871
 1
 0
 1
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 16796000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 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
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chaves_19_ASD/DD/ID_discovery_cases-case332
  NA NA
 N/A
 F
 Developmental delay and intellectual disability
 Developmental delay, intellectual disability, and facial dysmorphism
 Intellectual disability
 143372151
 159327017
  15954867
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002682
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 140754198
 159307523
  18553326
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003813
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 142021716
 159325876
  17304161
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 139365967
 159282531
  19916565
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004631
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 142358524
 159282531
  16924008
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case28734
 NA
 NA
 ASD
 NA
 NA
 141177279
 158788150
  17610871
 Unknown
 Deletion
 Yes
  sansovic_17_DD/ID/ASD_discovery_cases-case83
 2 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 142620494
 159331441
  16710948
 GRCh38
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chaves_19_ASD/DD/ID_discovery_cases-case332
 
 
 Unknown
 
 
 ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,LRRC61,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPTIN7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,ARHGEF35-AS1,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,CNTNAP2-AS1,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,ZBED6CL,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,H2BE1,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002682
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-85P,CCT4P1,MRPS33,RNU4-74P,NDUFB10P2,RNU1-82P,TAS2R3,TAS2R4,TAS2R6P,TAS2R5,MTCO1P55,MTND2P5,MTND1P3,MYL6P4,OR9A3P,OR9A1P,OR9N1P,TAS2R38,PRSS58,TRY2P,PRSS3P3,TRBV1,TRBV2,TRBV3-1,TRBV4-1,TRBV5-1,TRBV6-1,TRBV7-1,TRBV4-2,TRBV6-2,TRBV7-2,TRBV8-1,TRBV5-2,TRBV6-4,TRBV7-3,TRBV8-2,TRBV5-3,TRBV9,TRBV10-1,TRBV11-1,TRBV12-1,TRBV10-2,TRBV11-2,TRBV12-2,TRBV6-5,TRBV7-4,TRBV5-4,TRBV6-6,TRBV7-5,TRBV5-5,TRBV6-7,TRBV7-6,TRBV5-6,TRBV6-8,TRBV7-7,TRBV5-7,TRBV7-9,TRBV13,TRBV10-3,TRBV11-3,TRBV12-3,TRBV12-4,TRBV12-5,TRBV14,TRBV15,TRBV16,TRBV17,TRBV18,TRBV19,TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,WEE2-AS1,WEE2,SSBP1,PRSS37,OR9A4,CLEC5A,MOXD2P,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,BRAF,TMEM178B,KIAA1147,MGAM,MGAM2,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,AGK,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003813
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PRSS58,TRY2P,PRSS3P3,TRBV1,TRBV2,TRBV3-1,TRBV4-1,TRBV5-1,TRBV6-1,TRBV7-1,TRBV4-2,TRBV6-2,TRBV7-2,TRBV8-1,TRBV5-2,TRBV6-4,TRBV7-3,TRBV8-2,TRBV5-3,TRBV9,TRBV10-1,TRBV11-1,TRBV12-1,TRBV10-2,TRBV11-2,TRBV12-2,TRBV6-5,TRBV7-4,TRBV5-4,TRBV6-6,TRBV7-5,TRBV5-5,TRBV6-7,TRBV7-6,TRBV5-6,TRBV6-8,TRBV7-7,TRBV5-7,TRBV7-9,TRBV13,TRBV10-3,TRBV11-3,TRBV12-3,TRBV12-4,TRBV12-5,TRBV14,TRBV15,TRBV16,TRBV17,TRBV18,TRBV19,TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,MOXD2P,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,MGAM,MGAM2,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-911P,ERHP1,KDM7A-DT,RNU6-797P,RNU1-58P,PPP1R2P6,RNA5SP247,RNA5SP248,RN7SL771P,NDUFB2-AS1,RNU6-85P,CCT4P1,MRPS33,RNU4-74P,NDUFB10P2,RNU1-82P,TAS2R3,TAS2R4,TAS2R6P,TAS2R5,MTCO1P55,MTND2P5,MTND1P3,MYL6P4,OR9A3P,OR9A1P,OR9N1P,TAS2R38,PRSS58,TRY2P,PRSS3P3,TRBV1,TRBV2,TRBV3-1,TRBV4-1,TRBV5-1,TRBV6-1,TRBV7-1,TRBV4-2,TRBV6-2,TRBV7-2,TRBV8-1,TRBV5-2,TRBV6-4,TRBV7-3,TRBV8-2,TRBV5-3,TRBV9,TRBV10-1,TRBV11-1,TRBV12-1,TRBV10-2,TRBV11-2,TRBV12-2,TRBV6-5,TRBV7-4,TRBV5-4,TRBV6-6,TRBV7-5,TRBV5-5,TRBV6-7,TRBV7-6,TRBV5-6,TRBV6-8,TRBV7-7,TRBV5-7,TRBV7-9,TRBV13,TRBV10-3,TRBV11-3,TRBV12-3,TRBV12-4,TRBV12-5,TRBV14,TRBV15,TRBV16,TRBV17,TRBV18,TRBV19,TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,LUC7L2,CLEC2L,PARP12,RAB19,MKRN1,ADCK2,NDUFB2,WEE2-AS1,WEE2,SSBP1,PRSS37,OR9A4,CLEC5A,MOXD2P,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,HIPK2,TBXAS1,KDM7A,SLC37A3,DENND2A,BRAF,TMEM178B,KIAA1147,MGAM,MGAM2,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,KLRG2,AGK,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004631
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRBV8-1,TRBV5-2,TRBV6-4,TRBV7-3,TRBV8-2,TRBV5-3,TRBV9,TRBV10-1,TRBV11-1,TRBV12-1,TRBV10-2,TRBV11-2,TRBV12-2,TRBV6-5,TRBV7-4,TRBV5-4,TRBV6-6,TRBV7-5,TRBV5-5,TRBV6-7,TRBV7-6,TRBV5-6,TRBV6-8,TRBV7-7,TRBV5-7,TRBV7-9,TRBV13,TRBV10-3,TRBV11-3,TRBV12-3,TRBV12-4,TRBV12-5,TRBV14,TRBV15,TRBV16,TRBV17,TRBV18,TRBV19,TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
 
 rosenfeld_10_ASD_discovery_cases-case28734
 FISH
 
 Unknown
 Unknown
 Unknown
 PRSS37,OR9A4,CLEC5A,TAS2R38,MGAM,PRSS58,MTRNR2L6,PRSS1,PRSS2,EPHB6,TRPV6,TRPV5,C7orf34,KEL,OR9A2,OR6V1,PIP,TAS2R39,TAS2R40,GSTK1,TMEM139,CASP2,CLCN1,FAM131B,ZYX,EPHA1,TAS2R60,TAS2R41,CTAGE15P,FAM115C,CTAGE6P,FAM115A,OR2F2,OR2F1,OR6B1,OR2A5,OR2A25,OR2A12,OR2A2,OR2A14,CTAGE4,ARHGEF35,OR2A1,OR2A42,OR2A7,ARHGEF5,NOBOX,TPK1,CNTNAP2,C7orf33,CUL1,EZH2,PDIA4,ZNF786,ZNF425,ZNF398,ZNF282,ZNF212,ZNF783,ZNF777,ZNF746,KRBA1,ZNF467,SSPO,ZNF862,ATP6V0E2,ACTR3C,LRRC61,C7orf29,RARRES2,REPIN1,ZNF775,GIMAP8,GIMAP7,GIMAP4,GIMAP6,GIMAP2,GIMAP1-GIMAP5,GIMAP1,GIMAP5,LOC100128542,TMEM176B,TMEM176A,ABP1,KCNH2,NOS3,ATG9B,ABCB8,ACCN3,CDK5,SLC4A2,FASTK,TMUB1,AGAP3,GBX1,ASB10,ABCF2,CHPF2,SMARCD3,NUB1,WDR86,CRYGN,RHEB,PRKAG2,GALNTL5,GALNT11,MLL3,XRCC2,ACTR3B,DPP6,PAXIP1,HTR5A,INSIG1,EN2,CNPY1,RBM33,SHH,RNF32,LMBR1,NOM1,MNX1,UBE3C,DNAJB6,PTPRN2,NCAPG2,ESYT2,WDR60,VIPR2
 
 sansovic_17_DD/ID/ASD_discovery_cases-case83
 
 
 Maternal
 
 
 TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
 

Controls

No Control Data Available
No Animal Model Data Available
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