19p13.13-p13.11CNV Type: Deletion
Largest CNV size: 3620000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions within this region were found to be signficantly enriched in cases with developmental delay, intellectual disability, and other neurodevelopmental disorders (including ASD), compared to controls (Girirajan et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
3620000
13
0
13
nebel_15_DD/ID_discovery_cases
Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
16
Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
N/A
50.00% Male
2390000
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
3620000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
nebel_15_DD/ID_discovery_cases
N/A
N/A
N/A
N/A
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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_12_ASD/DD/ID_discovery_cases-case1541
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1542
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1543
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1544
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1545
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1546
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1547
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1548
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1549
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1550
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1551
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1552
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1553
NA
NA
Developmental delay
NA
NA
12968186
16588189
3620004
GRCh38
Deletion
NA
nebel_15_DD/ID_discovery_cases-case3
N/A
F
Intellectual disability and microcephaly
DECIPHER ID 285763. Microcephaly
Intellectual disability
13819186
16209189
2390004
GRCh38
Deletion
N/A
nebel_15_DD/ID_discovery_cases-case4
N/A
F
Intellectual disability and microcephaly
DECIPHER ID 283124. Microcephaly
Intellectual disability
13819186
16209189
2390004
GRCh38
Deletion
N/A
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_12_ASD/DD/ID_discovery_cases-case1541
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1542
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1543
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1544
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1545
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1546
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1547
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1548
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1549
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1550
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1551
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1552
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
girirajan_12_ASD/DD/ID_discovery_cases-case1553
NA
Unknown
Unknown
Unknown
DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,CACNA1A,ADGRE3,OR10H2
nebel_15_DD/ID_discovery_cases-case3
CNV validation N/A
De novo
MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,ADGRE3,OR10H2
nebel_15_DD/ID_discovery_cases-case4
CNV validation N/A
De novo
MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,ADGRE3,OR10H2
Controls
No Control Data Available
No Animal Model Data Available