16p13.3-p13.2CNV Type: Deletion
Largest CNV size: 13326 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
A deletion involving the RBFOX1 gene was identified in a male patient with autism that was inherited from a father with social isolation & anxiety and an elevated broader autism phenotype questionnaire aloofness score.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
13326
1
0
1
hao_15_ASD/DD/ID_discovery_cases
Subjects with deletions affecting the USP7 gene identified from databases from the Molecular Genetics Laboratory at Baylor College of Medicine (subjects 3, 4, and 5), Signature Genomics Laboratory (subject 1), or DECIPHER (subjects 2 and 7)
6
All six cases present with developmental delay/intellectual disability (DD/ID); five cases diagnosed with ASD (three based on DSM-V criteria, diagnostic tools N/A for two other cases); four cases present with seizures.
Range, 5-10 yrs.
83.33% Male
4740000
3
0
3
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
4259963
4
1
5
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
9352196
0
1
1
zhao_13_DD/ID/ASD/EP_discovery_cases
Consecutive pediatric patients referred for chromosomal microarray analysis (CMA) (KingMed Genome Diagnostic Laboratory, Guangzhou, China)
2124
Patients had one or more of the following clinical findings at time of referral: intellectual disability (ID), developmental delay (DD), multiple congenital anomalies (MCA), ASD, dysmorphism, seizures, learning disabilities, or speech delays.
N/A
N/A
21071
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
344706
1
1
2
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
6
0
6
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
Real-time PCR
hao_15_ASD/DD/ID_discovery_cases
Caucasian (n=5), Turkish (n=1)
CMA
CMA platform N/A
None (CNV validation status N/A)
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
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
zhao_13_DD/ID/ASD/EP_discovery_cases
China
aCGH
Agilent Human Genome 244K
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nguyen_13_DD/ID/MCA/ASD_discovery_controls
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
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
6306186
6319512
13327
GRCh38
Deletion
Yes
hao_15_ASD/DD/ID_discovery_cases-subject1
9 yrs.
M
ASD, developmental delay/intellectual disability, and seizures
Case diagnosed with ASD based on deficits in social communication and interaction, as well as restricted and repetitive patterns of behavior (diagnostic tools N/A). Birth/neonatal history: born at full-term to 40-year-old mother by C-section delivery; no complications post-delivery; birth weight of 6 lbs. 12 oz.; expressed difficulty to latch during breast-feeding. Developmental milestones: delayed development; described as sitting without support and crawling at 12 months of age and walking at 3 years of age. Language and communication evaluation: attempted word formation since age of 3 years; significant apraxia; remains non-verbal until age of 9 yrs; receptive to language and conversation. Motor and musculoskeletal evaluation: muscular hypotonia. Epilepsy/seizures: seizures. Vision and hearing evaluation: mild strabismus that resolved spontaneously. Dysmorphic features: bilateral cryptorchidism. Case identified in Signature Genomics Laboratories database.
Requires special education
4818743
9517884
4699142
GRCh38
Deletion
No
hao_15_ASD/DD/ID_discovery_cases-subject3
9 yrs.
F
ASD, developmental delay/intellectual disability, and seizures
Case diagnosed with autism spectrum disorder based on DSM-V criteria. Birth/neonatal history: born at full-term to 30-year-old mother; delivered via SVD with birth weight of 7 lbs. 11 oz.; no complications during delivery; hyperbilirubinemia as a newborn requiring phototherapy. Developmental milestones: began to sit without support at 4 months of age, crawled and scooted at 8 months of age, did not walk indepdently until 27 months of age; delayed speech with first words at 3 years of age and combining words at 4 years of age. Language and communication evaluation: diagnosis of apraxia; vocabulary of 200 words at age of 9 years following speech therapy. Behavioral/psychiatric evaluation: aggressive behavior, hand flapping, rocking, perservation, strict adherence to routine. Sleep disturbances: central and obstructive sleep apnea; sleep apnea subsequently resolved following adenoidectomy, lingual tonsillectomy, and uvulectomy. Epilepsy/seizures: seizures. Dysmorphic features: premature adrenarche. Case identifed in Molecular Genetics Laboratory at Baylor College of Medicine database.
Requires special education
5702800
8923510
3220711
GRCh38
Deletion
No
hao_15_ASD/DD/ID_discovery_cases-subject4
8 yrs.
M
ASD, developmental delay/intellectual disability, and seizures
Case diagnosed with autism spectrum disorder (diagnostic tools N/A). Birth/neonatal history: born at full term via vacuum-assisted vaginal delivery with no complications; birth weight of 6 lbs. 9 oz. Developmental milestones: diagnosed with developmental delay with inability to walk until approximately 1.5 years of age; delayed speech (only using one word at 2 years of age); delay in toilet training at 4.5 years of age. Language and communication evaluation: diagnosed with speech apraxia; currently has no spoken words but is receptive to language; has about ten signs and can follow simple directions. Motor and musculoskeletal evaluation: subpar ambulatory skills. Behavioral/psychiatric evaluation: noted to interact and play with other children and uses gestures and a means of interaction; aggressive behavior included outbursts associated with anxiety; displays repetitive behavior and requires strict adherence to routines. Epilepsy/seizures: seizures. Case identifed in Molecular Genetics Laboratory at Baylor College of Medicine database.
Attends special education program
5436453
9109498
3673046
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000874
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5967775
6629301
661527
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001858
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6305477
6373270
67794
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001944
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2850734
7110697
4259964
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002454
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6245158
6327302
82145
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002510
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5589104
8091212
2502109
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC63699
N/A
F
MCA
Database: Signature. Indication for study: Dysmorphic Features, Multiple Congenital Anomalies
47922
9356261
9308340
GRCh38
Duplication
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case1
N/A
F
Developmental delay and MCA
Neurological problems: none. Dysmorphic features: none. Other organ abnormalities/disorders: hypotonia, feeding problems, eczema, bilateral renal reflux and dilatation, episodes of fussiness and gassiness, chronic constipation, a diagnosis of Mowat-Wilson syndrome.
Global developmental delay
6306451
6327522
21072
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB347269_1007854760
N/A
N/A
Control
No previous psychiatric history
6278441
6623147
344707
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
N/A
N/A
Control
No previous psychiatric history
6243064
6343697
100634
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control10
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control11
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control6
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control7
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control8
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control9
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_12_ASD_discovery_cases-case1
Real-time PCR
Paternal
Simplex
Segregated
RBFOX1
hao_15_ASD/DD/ID_discovery_cases-subject1
CNV validation status N/A
De novo
LINC02164,SNRPCP20,MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,LINC02152,RNU7-63P,RPL21P119,LINC01177,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,TMEM114,METTL22,RN7SL743P,PMM2,CARHSP1,C16orf72,LINC02177,LINC01195,UBN1,SEC14L5,ENPP7P14,ABAT,TMEM186,USP7,RBFOX1
hao_15_ASD/DD/ID_discovery_cases-subject3
CNV validation status N/A
De novo
RNU7-99P,RNU6-457P,RNU6-328P,LINC02152,RNU7-63P,TMEM114,METTL22,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186,USP7,RBFOX1
hao_15_ASD/DD/ID_discovery_cases-subject4
CNV validation status N/A
De novo
MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,LINC02152,RNU7-63P,LINC01570,TMEM114,METTL22,RN7SL743P,PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000874
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001858
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001944
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,CASP16P,SRL,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002454
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002510
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,LINC01570,RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC63699
FISH
Maternal (balanced carrier)
Unknown
Unknown
SNRNP25,HBZ,HBA2,HBA1,HBQ1,RGS11,PDIA2,MRPL28,LINC00235,MIR5587,MIR3176,PRR35,NHLRC4,WFIKKN1,METTL26,RHBDL1,STUB1,JMJD8,METRN,CCDC78,HAGHL,MSLN,MIR662,CHTF18,GNG13,SSTR5,C1QTNF8,TPSG1,TPSAB1,TPSD1,TPSP2,RPS20P2,TSR3,C16orf91,RPS3AP2,PTX4,MIR3177,NME3,MRPS34,EME2,IGFALS,LINC02124,MSRB1,NDUFB10,RPS2,SNORA10,SNORA64,SNHG9,SNORA78,RNF151,GFER,SYNGR3,RN7SL219P,NTHL1,MIR1225,MIR6511B1,MIR4516,MIR3180-5,SNHG19,SNORD60,MLST8,PGP,DNASE1L2,MIR3677,MIR940,MIR4717,MIR6767,TEDC2,MIR6768,ATP6V0C,CEMP1,MIR3178,ELOB,SNORA3C,EIF1P4,PRSS30P,PRSS22,RPL23AP86,PKMYT1,PAQR4,LINC00514,CLDN9,CLDN6,TNFRSF12A,HCFC1R1,THOC6,RNU1-125P,RNU1-22P,ZNF213,OR1F1,OR1F2P,LINC00921,TIGD7,OR2C1,MTCO1P28,MTND1P8,MTRNR2L4,MIR6126,C16orf90,LINC01569,SUB1P3,UBALD1,RN7SL850P,MIR6769A,NUDT16L1,SMIM22,LINC02164,SNRPCP20,MIR8065,RNU7-99P,RNU6-457P,RNU6-328P,LINC02152,RNU7-63P,RPL21P119,POLR3K,RHBDF1,MPG,HBM,HBZP1,LUC7L,ARHGDIG,AXIN1,TMEM8A,NME4,DECR2,RAB11FIP3,CAPN15,PIGQ,RAB40C,MCRIP2,RHOT2,WDR24,FBXL16,FAM173A,CIAO3,MSLNL,LMF1-AS1,SOX8,SSTR5-AS1,TPSB2,PRSS29P,BAIAP3,GNPTG,UNKL,CLCN7,TELO2,TMEM204,CRAMP1,JPT2,MAPK8IP3,SPSB3,NUBP2,HAGH,LINC00254,HS3ST6,RPL3L,TBL3,NOXO1,ZNF598,NPW,SLC9A3R2,TSC2,RAB26,TRAF7,CASKIN1,BRICD5,ECI1,RNPS1,ABCA3,CCNF,NTN3,AMDHD2,PDPK1,ERVK13-1,KCTD5,PRSS27,PRSS33,PRSS41,PRSS21,ZG16B,FLYWCH1,KREMEN2,BICDL2,MMP25-AS1,MMP25,IL32,ZSCAN10,ZNF213-AS1,ZNF205,ZNF200,MEFV,ZNF75A,ZSCAN32,ZNF597,NAA60,NLRC3,SLX4,TFAP4,PAM16,CORO7-PAM16,CORO7,VASN,NMRAL1,HMOX2,CDIP1,MGRN1,C16orf71,ZNF500,SEPT12,ROGDI,GLYR1,PPL,NAGPA-AS1,NAGPA,ALG1,C16orf89,EEF2KMT,LINC01570,TMEM114,METTL22,RN7SL743P,PMM2,CARHSP1,C16orf72,LINC02177,NPRL3,FAM234A,WDR90,RPUSD1,LMF1,CACNA1H,UBE2I,CCDC154,IFT140,FAHD1,MEIOB,E4F1,ABCA17P,TBC1D24,PDPK2P,SRRM2-AS1,SRRM2,FLYWCH2,ZNF263,ZNF174,CLUAP1,DNASE1,TRAP1,CREBBP,ADCY9,GLIS2,GLIS2-AS1,DNAJA3,C16orf96,ANKS3,UBN1,SEC14L5,ENPP7P14,ABAT,TMEM186,USP7,PKD1,CASP16P,SRL,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case1
qPCR
Unknown
Unknown
Unknown
RBFOX1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB347269_1007854760
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
Unknown
RBFOX1
girirajan_13a_ASD_discovery_controls2-control10
Unknown
RBFOX1
girirajan_13a_ASD_discovery_controls2-control11
Unknown
RBFOX1
girirajan_13a_ASD_discovery_controls2-control6
Unknown
RBFOX1
girirajan_13a_ASD_discovery_controls2-control7
Unknown
RBFOX1
girirajan_13a_ASD_discovery_controls2-control8
Unknown
RBFOX1
girirajan_13a_ASD_discovery_controls2-control9
Unknown
RBFOX1
No Animal Model Data Available