13q33.2-q34CNV Type: Deletion-Duplication
Largest CNV size: 10198813 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
CNVs within this region were identified in cases from two recent reports (Kaminsky et al., 2011; Nguyen et al., 2013).
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
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
9973767
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
10198813
6
0
6
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
9407446
4
1
5
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
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
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
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
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
chaves_24_ASD/DD/ID_discovery_cases-case873
F
ASD and intellectual disability
ASD, congenital anomalies, facial dysmorphism and microcephaly.
Intellectual disability
104368492
114342258
9973767
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
106157165
114327173
8170009
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001643
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
104698508
114327173
9628666
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001686
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
104461586
114327173
9865588
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003849
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105571072
114327314
8756243
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
106043720
110366226
4322507
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005263
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105571072
114327314
8756243
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253261
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
104999223
114293545
9294323
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260574
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
105789224
114293545
8504322
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-4668
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Fallot tetrlogy, intellectual disability/developmental delay, microcephaly, myopia, speech delay
Developmental delay/intellectual disability
104999223
114293545
9294323
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677
N/A
F
DD/ID/MCA
Database: Signature. Indication for study: Trisomy 13
105181093
112004359
6823267
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51428
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay, Cleft palate with cleft lip, Hypospadias
Developmental delay
105408563
114326261
8917699
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_24_ASD/DD/ID_discovery_cases-case873
Unknown
PARP1P1,ATP4B,COL4A1,EFNB2,F10,F7,COL4A2,ARGLU1,NAXD,DCUN1D2,ANKRD10,TMCO3,RAB20,PCID2,UPF3A,GRTP1,CARS2,ABHD13,TEX29,SPACA7,ADPRHL1,PPIAP24,LINC00343,ING1,GAS6,CHAMP1,LINC00567,DAOA-AS1,PRECSIT,LINC00551,DAOA,TMEM255B,ATP11AUN,ATP5MC1P5,LINC00452,RPL21P107,LINC00460,GAS6-AS1,NALF1,CLCP2,COL4A2-AS2,LINC00552,LAMP1,LIG4,RPL7P45,MCF2L-AS1,LDHBP1,MIR1267,KARS1P2,HCFC2P1,SOX1-OT,ANKRD10-IT1,GAS6-DT,MIR4502,C13orf46,RNA5SP38,LINC00565,MIR548AR,RNA5SP39,ARHGEF7-IT1,RASA3-IT1,MYO16-AS1,MYO16-AS2,LINC00454,RNU1-16P,RN7SKP10,ARHGEF7-AS1,RPL35P9,LINC00404,LINC00443,DCUN1D2-AS,NALF1-IT1,COL4A2-AS1,GRTP1-AS1,ATP11A-AS1,ARHGEF7-AS2,LINC00676,LINC00368,GRK1,LINC01043,CFAP97D2,LINC00354,LINC01070,MIR8075,MIR8073,LINC00431,LINC00399,LINC01044,LINC00396,LINC01054,F10-AS1,LINC00370,LINC02337,SOX1,TFDP1,RN7SL783P,LINC01067,SNORD31B,CDC16,PROZ,CUL4A,ARHGEF7,IRS2,TNFSF13B,RASA3,TUBGCP3,MYO16,MCF2L,ATP11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001643
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001686
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003849
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005263
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253261
De novo
Unknown
Possibly segregated
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260574
Unknown
Unknown
Unknown
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-4668
De novo
Unknown
Possibly segregated
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677
FISH
Unknown
Unknown
Unknown
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,ARHGEF7,MYO16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51428
FISH
Unknown
Unknown
Unknown
RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
Controls
No Control Data Available
No Animal Model Data Available