1q41-q44CNV Type: Duplication
Largest CNV size: 34915513 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Duplications within this region were found in four cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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...
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
de_carvalho_24_DD/ID_discovery_cases
Patients evaluated between 2011 and 2014 from the Medical Genetic Clinic of SGM/HUPES/UFBA (Bahia) and collaborating institutions, Albert Sabin Children's Hospital (Ceara), State Secretariat of Public Health of Rio Grande do Norte, Potiguar University (UNP/Rio Grande do Norte), and Association of Parents and Friends of Exceptional People, Sao Luiz (Maranhao).
119
Intellectual disability with or without dysmorphic features, as well as normal karyotype and fragile X exams, was the inclusion criteria for participating in this study.
33687738
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
34915513
0
4
4
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
29304916
0
1
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
de_carvalho_24_DD/ID_discovery_cases
Brazil
CMA
Illumina Scan Sqsistem, Illumina Human CytoSNP-12 BeadChip
Illumina GenomeStudio v.2010.1, KaryoStudio v.1.4.3.0 Build 37 (CNV Plugin v.3.0.7.0)
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
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
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
de_carvalho_24_DD/ID_discovery_cases-case3
5 yrs.
F
Developmental delay, intellectual disability, and autistic behavior
Developmental milestones: delayed speech. Behavioral/psychiatric evaluation: autistic behavior. Dysmorphic features: arched palate, micrognathia. Growth parameters: growth delay.
Intellectual disability
215220819
248908556
33687738
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000119
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
223347693
248918469
25570777
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000959
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
214023812
248918469
34894658
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004285
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
221902539
248918469
27015931
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004349
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
223828500
248891309
25062810
GRCh38
Duplication
Yes
miclea_22_DD/ID_discovery_cases-case5
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features.
Intellectual disability
219613554
248918469
29304916
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
de_carvalho_24_DD/ID_discovery_cases-case3
Unknown
ACTA1,LYST,ACTN2,ARF1,CAPN2,CHRM3,CHML,AGT,PARP1,ADSS2,EPHX1,ESRRG,EPRS1,FH,ENO1P1,DISC1,TAF5L,OR2T1,SCCPDH,TRIM17,PYCR2,KCTD3,CNIH4,DESI2,RRP15,ARID4B,NUP133,HEATR1,ZNF692,SLC30A10,MAP10,GPATCH2,KIF26B,MTARC2,SUSD4,IARS2,EGLN1,ENAH,RHOU,ZP4,ERO1B,FMN2,COQ8A,ZNF695,GJC2,SIPA1L2,HHIPL2,ZNF672,ARV1,C1orf115,TFB2M,JMJD4,SMYD3,PGBD5,ACBD3,MTARC1,TTC13,C1orf35,ZNF669,GREM2,AIDA,WDR26,OR2L5,OR2C3,EFCAB2,OR2L9P,OR2T7,NTPCR,MIXL1,OR2G3,SH3BP5L,SPRTN,MAP3K21,OBSCN,OR2L6P,PCNX2,OR2AS1P,OR9H1P,OR6R1P,TRIM11,OR2G2,C1orf198,ZNF670,WNT3A,H2AW,ZNF496,DISP1,OR14L1P,OR2B11,SPATA17,COX20,SNAP47,C1orf131,OR2T12,EDARADD,TGIF2P1,DNAH14,MRPL55,OR2M5,LYPLAL1,OR2AJ1,NLRP3,H2BU1,OR2M3,WDR64,XRCC6P3,OR2T4,OR2T34,OR14C36,CCSAP,OR2T11,OR2T10,B3GALNT2,LINC01341,EXOC8,SLC35F3,HSD17B7P1,RNF187,GCSAML,TRIM67-AS1,CNIH3,BROX,PLD5,IBA57,TUBB8P6,C1orf100,CNST,SDE2,CCDC185,HLX,GALNT2,HNRNPU,FTH1P2,GUK1,H3-3A,GNG4,OR14A16,OR2L13,CATSPERE,TUBB8P9,PGBD2,OR2T6,LINC01743,ZNF678,VN1R5,OR2W3,OR6F1,LIN9,OR2T8,OR2T3,PRSS38,OR2T29,LINC02774,MORF4L1P1,H2BU2P,OR14K1,LINC01139,IRF2BP2,STUM,LINC02897,OR2M1P,OR14A2,MRPS18BP1,FAM89A,CAPN8,COA6,CYCSP5,MIA3,KRT18P32,OR2G6,CIAO2AP2,TUBB8P10,OR2M7,OR11L1,RPL23AP15,OR2AK2,LINC02817,RSL24D1P4,FAM177B,CDKN2AIPNLP1,OR2T33,RPS3AP7,OR2L3,OR2L8,OR2M2,GTF2IP20,OR2T2,TRIM67,RPS7P3,OR2T5,OR2T27,ZNF847P,OR2X1P,OR2T32P,MIR215,AKR1B1P1,OR2AS2P,OR2T35,RPL35P1,MAP1LC3C,OR14I1,MIR194-1,LINC02869,OR13G1,VN1R17P,IBA57-DT,OBSCN-AS1,OR3D1P,BTF3P9,DUSP5P1,ZC3H11B,OR2W5P,BECN2,RPL10AP5,MT1HL1,CICP26,VDAC1P10,CFL1P4,RPS7P5,LYPLAL1-DT,NDUFA3P3,SNRPD2P2,THAP12P8,LYPD8,HMGB1P26,ACTBP11,RPL23AP20,SNORA36B,TMEM78,SNORA14B,CICP13,TGFB2-AS1,LINC01347,ZNF731P,LINC01348,CICP5,RPSAP21,NUCKS1P1,CLK3P2,BTNL10,MIPEPP2,NXNP1,PRELID3BP1,KIF28P,RPS15AP12,MARK1,KCNK1,KCNK2,NID1,LGALS8,NVL,ITPKB,MTR,LBR,RNA5S9,RNA5S10,RNA5S8,RNA5S2,RNA5S6,RNA5S15,ADH5P3,RNA5S16,DPY19L4P1,RNA5S14,RNA5S13,RNA5S1,RNA5S4,RNA5S5,RNA5S3,RNA5S17,RNA5S7,RNA5S11,RNA5S12,RPS21P1,RPS27P5,LDHAP2,LINC00582,LGALS8-AS1,RPL23AP23,ISCA1P2,SEPTIN7P13,RPL35AP6,HNRNPA1P42,SNX2P1,MIR1182,LINC00184,NDUFB1P2,MIR320B2,TSNAX-DISC1,MIR1537,MIR664A,HDAC1P2,RFKP1,FGFR3P6,FAM133FP,CICP21,FCF1P7,RIMKLBP2,QRSL1P2,TAF1A-AS1,MIR3620,RNY4P16,MIR3124,MIR3123,MIR3916,MTRNR2L11,MIR4753,LINC01354,ITPKB-IT1,LINC01132,MIR4427,FABP7P1,LINC02809,MIR4671,CHRM3-AS2,ZNF670-ZNF695,MIR4677,MIR4428,MIR4666A,RNA5SP80,RNA5SP18,RNA5SP77,RNA5SP76,MTND3P8,RNA5SP82,RNA5SP79,MIR5008,MTND4P10,RNA5SP78,RNA5SP19,MTND5P18,DNAJC19P8,MTND5P19,YBX1P9,MIR4742,RNA5SP162,AKT3-IT1,SNRPEP10,ITPKB-AS1,LINC00210,SNAP47-AS1,CHRM3-AS1,RNU5A-5P,RNU5F-8P,HMGN2P19,HLX-AS1,LYST-AS1,RAC1P7,LINC01736,COA6-AS1,YWHAQP9,LINC01744,LINC01737,LINC01682,RAB4A,RYR2,RGS7,PSEN2,LYPD9P,LINC01655,SMYD3-AS1,LINC01352,LINC01653,MIR6742,LYPLAL1-AS1,SLC35F3-AS1,USH2A-AS2,CNIH3-AS2,MIR6741,DISC1-IT1,SPATA17-AS1,TGFB2-OT1,USH2A-AS1,LINC01710,LINC02257,LINC02779,LINC02768,LINC01745,CNIH3-AS1,LINC01703,LINC02765,LINC02815,RN7SKP276,RN7SL148P,SMYD3-IT1,MTND6P15,RN7SL299P,RN7SKP55,CHCHD4P5,MTND6P14,TLR5,GPR137B,SRP9,AURKAP1,TGFB2,TSNAX,LEFTY2,TP53BP2,USH2A,TARBP1,TBCE,RNU6-999P,RNU1-74P,SEPTIN14P17,RNU2-70P,RNU6-791P,RN7SL668P,RNU6-1304P,RNU4-57P,RNU6-1319P,RNU6-1211P,RN7SKP165,RNU6-747P,RNU6-1248P,RNU6-947P,RNU6-180P,RN7SL464P,RNU6ATAC35P,RN7SKP49,RNU6-403P,RN7SL837P,RNU4-21P,RNU4-77P,RNU6-725P,RN7SKP12,RNU1-132P,RNU6-1089P,RNU1-141P,MTCO3P46,RNU6-1283P,MTCYBP14,RNU6-1008P,AHCYP8,MTCYBP15,MTND4LP21,SEPTIN14P21,RNU6-968P,RN7SKP195,MTCO1P38,LINC01705,DNAJB6P6,LINC02813,ACBD3-AS1,LINC01641,KIF26B-AS1,LINC02474,LINC02814,WNT9A,GNPAT,ZNF124,H3-4,TAF1A,CDC42BPA,DEGS1,KMO,H3-3A-DT,TMEM63A,URB2,GGPS1,TOMM20,EXO1,CEP170,AKT3,ZBTB18,COG2,SDCCAG8,CAPN9,DUSP10,LEFTY1,BPNT1,RBM34,OR2L2,ABCB10,FBXO28,UBBP2,OR2M4,RAB3GAP2,OPN3,TRIM58,OR1C1,OR2L1P,AHCTF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000119
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,RNA5S6,RNA5S7,RNA5S8,RNA5S9,RNA5S10,RNA5S11,RNA5S12,RNA5S13,RNA5S14,RNA5S15,RNA5S16,RNA5S17,RNA5SP18,DUSP5P1,FTH1P2,ISCA1P2,TMEM78,SPHAR,RNU6-180P,RN7SKP276,ACTA1,RNU4-21P,RNA5SP78,HMGN2P19,HMGB1P26,LINC01736,LINC01737,RNA5SP79,RN7SL837P,MIR1182,RNA5SP80,EXOC8,SNRPD2P2,RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,RAC1P7,MIR4671,COA6,LINC01354,IRF2BP2,LINC00184,RNY4P16,RN7SL668P,LINC01348,SNORA14B,MIR4753,RPL23AP23,RPS21P1,MTND6P14,MTND5P19,MTND4P10,MTND4LP21,MTND3P8,MTCO3P46,LDHAP2,LYST-AS1,MIR1537,RNU6-968P,RNU2-70P,ENO1P1,LGALS8-AS1,RPSAP21,RPL35P1,MT1HL1,RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,RHOU,RAB4A,CCSAP,ABCB10,TAF5L,LINC01682,AGT,CAPN9,C1orf198,ARV1,FAM89A,C1orf131,GNPAT,EGLN1,TSNAX,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,TARBP1,LINC01132,TOMM20,GGPS1,B3GALNT2,MTCYBP14,GNG4,ERO1B,LGALS8,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CAPN8,CAPN2,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB,NUP133,GALNT2,PGBD5,TTC13,TRIM67,SPRTN,LINC00582,SIPA1L2,PCNX2,SLC35F3,RBM34,ARID4B,TBCE,LYST,NID1,GPR137B,EDARADD,HEATR1,ACTN2,MTR,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,SUSD4,WDR26,URB2,COG2,TSNAX-DISC1,DISC1,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000959
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT18P12,ABHD17AP3,UBE2V1P13,GAPDHP24,VDAC1P10,MRPS18BP1,SPATA17-AS1,UBBP2,RNU1-141P,TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RIMKLBP2,RNA5SP76,MIR215,MIR194-1,RPS15AP12,MIR664A,SNORA36B,MORF4L1P1,AURKAP1,XRCC6P3,PRELID3BP1,RN7SL464P,RNU6ATAC35P,LINC01352,HLX,RNU6-403P,QRSL1P2,CICP13,RNU6-791P,NDUFB1P2,RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,RNA5S6,RNA5S7,RNA5S8,RNA5S9,RNA5S10,RNA5S11,RNA5S12,RNA5S13,RNA5S14,RNA5S15,RNA5S16,RNA5S17,RNA5SP18,DUSP5P1,FTH1P2,ISCA1P2,TMEM78,SPHAR,RNU6-180P,RN7SKP276,ACTA1,RNU4-21P,RNA5SP78,HMGN2P19,HMGB1P26,LINC01736,LINC01737,RNA5SP79,RN7SL837P,MIR1182,RNA5SP80,EXOC8,SNRPD2P2,RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,RAC1P7,MIR4671,COA6,LINC01354,IRF2BP2,LINC00184,RNY4P16,RN7SL668P,LINC01348,SNORA14B,MIR4753,RPL23AP23,RPS21P1,MTND6P14,MTND5P19,MTND4P10,MTND4LP21,MTND3P8,MTCO3P46,LDHAP2,LYST-AS1,MIR1537,RNU6-968P,RNU2-70P,ENO1P1,LGALS8-AS1,RPSAP21,RPL35P1,MT1HL1,RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CENPF,LINC00210,LINC01653,RRP15,C1orf143,LYPLAL1,ZC3H11B,EPRS,IARS2,HDAC1P2,C1orf115,MARC2,MARC1,C1orf140,DUSP10,LINC01655,LINC02474,LINC01705,HHIPL2,TAF1A-AS1,MIA3,BROX,FAM177B,TLR5,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,RHOU,RAB4A,CCSAP,ABCB10,TAF5L,LINC01682,AGT,CAPN9,C1orf198,ARV1,FAM89A,C1orf131,GNPAT,EGLN1,TSNAX,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,TARBP1,LINC01132,TOMM20,GGPS1,B3GALNT2,MTCYBP14,GNG4,ERO1B,LGALS8,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,PROX1,SMYD2,PTPN14,KCNK2,KCTD3,GPATCH2,SPATA17,TGFB2,SLC30A10,BPNT1,MARK1,HLX-AS1,LINC02257,TAF1A,AIDA,DISP1,CAPN8,CAPN2,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB,NUP133,GALNT2,PGBD5,TTC13,TRIM67,SPRTN,LINC00582,SIPA1L2,PCNX2,SLC35F3,RBM34,ARID4B,TBCE,LYST,NID1,GPR137B,EDARADD,HEATR1,ACTN2,MTR,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,USH2A,ESRRG,LYPLAL1-DT,RAB3GAP2,SUSD4,WDR26,URB2,COG2,TSNAX-DISC1,DISC1,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004285
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
QRSL1P2,CICP13,RNU6-791P,NDUFB1P2,RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,RNA5S6,RNA5S7,RNA5S8,RNA5S9,RNA5S10,RNA5S11,RNA5S12,RNA5S13,RNA5S14,RNA5S15,RNA5S16,RNA5S17,RNA5SP18,DUSP5P1,FTH1P2,ISCA1P2,TMEM78,SPHAR,RNU6-180P,RN7SKP276,ACTA1,RNU4-21P,RNA5SP78,HMGN2P19,HMGB1P26,LINC01736,LINC01737,RNA5SP79,RN7SL837P,MIR1182,RNA5SP80,EXOC8,SNRPD2P2,RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,RAC1P7,MIR4671,COA6,LINC01354,IRF2BP2,LINC00184,RNY4P16,RN7SL668P,LINC01348,SNORA14B,MIR4753,RPL23AP23,RPS21P1,MTND6P14,MTND5P19,MTND4P10,MTND4LP21,MTND3P8,MTCO3P46,LDHAP2,LYST-AS1,MIR1537,RNU6-968P,RNU2-70P,ENO1P1,LGALS8-AS1,RPSAP21,RPL35P1,MT1HL1,RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,LINC02474,LINC01705,HHIPL2,TAF1A-AS1,MIA3,BROX,FAM177B,TLR5,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,RHOU,RAB4A,CCSAP,ABCB10,TAF5L,LINC01682,AGT,CAPN9,C1orf198,ARV1,FAM89A,C1orf131,GNPAT,EGLN1,TSNAX,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,TARBP1,LINC01132,TOMM20,GGPS1,B3GALNT2,MTCYBP14,GNG4,ERO1B,LGALS8,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,LINC02257,TAF1A,AIDA,DISP1,CAPN8,CAPN2,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB,NUP133,GALNT2,PGBD5,TTC13,TRIM67,SPRTN,LINC00582,SIPA1L2,PCNX2,SLC35F3,RBM34,ARID4B,TBCE,LYST,NID1,GPR137B,EDARADD,HEATR1,ACTN2,MTR,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,SUSD4,WDR26,URB2,COG2,TSNAX-DISC1,DISC1,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004349
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,RNA5S6,RNA5S7,RNA5S8,RNA5S9,RNA5S10,RNA5S11,RNA5S12,RNA5S13,RNA5S14,RNA5S15,RNA5S16,RNA5S17,RNA5SP18,DUSP5P1,FTH1P2,ISCA1P2,TMEM78,SPHAR,RNU6-180P,RN7SKP276,ACTA1,RNU4-21P,RNA5SP78,HMGN2P19,HMGB1P26,LINC01736,LINC01737,RNA5SP79,RN7SL837P,MIR1182,RNA5SP80,EXOC8,SNRPD2P2,RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,RAC1P7,MIR4671,COA6,LINC01354,IRF2BP2,LINC00184,RNY4P16,RN7SL668P,LINC01348,SNORA14B,MIR4753,RPL23AP23,RPS21P1,MTND6P14,MTND5P19,MTND4P10,MTND4LP21,MTND3P8,MTCO3P46,LDHAP2,LYST-AS1,MIR1537,RNU6-968P,RNU2-70P,ENO1P1,LGALS8-AS1,RPSAP21,RPL35P1,MT1HL1,RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,RHOU,RAB4A,CCSAP,ABCB10,TAF5L,LINC01682,AGT,CAPN9,C1orf198,ARV1,FAM89A,C1orf131,GNPAT,EGLN1,TSNAX,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,TARBP1,LINC01132,TOMM20,GGPS1,B3GALNT2,MTCYBP14,GNG4,ERO1B,LGALS8,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB,NUP133,GALNT2,PGBD5,TTC13,TRIM67,SPRTN,LINC00582,SIPA1L2,PCNX2,SLC35F3,RBM34,ARID4B,TBCE,LYST,NID1,GPR137B,EDARADD,HEATR1,ACTN2,MTR,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,WDR26,URB2,COG2,TSNAX-DISC1,DISC1,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
miclea_22_DD/ID_discovery_cases-case5
Unknown
ACTA1,LYST,ACTN2,ARF1,CAPN2,CHRM3,CHML,AGT,PARP1,ADSS2,EPHX1,EPRS1,FH,ENO1P1,DISC1,TAF5L,OR2T1,SCCPDH,TRIM17,PYCR2,CNIH4,DESI2,ARID4B,NUP133,HEATR1,ZNF692,SLC30A10,MAP10,KIF26B,MTARC2,SUSD4,IARS2,EGLN1,ENAH,RHOU,ZP4,ERO1B,FMN2,COQ8A,ZNF695,GJC2,SIPA1L2,HHIPL2,ZNF672,ARV1,C1orf115,TFB2M,JMJD4,SMYD3,PGBD5,ACBD3,MTARC1,TTC13,C1orf35,ZNF669,GREM2,AIDA,WDR26,OR2L5,OR2C3,EFCAB2,OR2L9P,OR2T7,NTPCR,MIXL1,OR2G3,SH3BP5L,SPRTN,MAP3K21,OBSCN,OR2L6P,PCNX2,OR2AS1P,OR9H1P,OR6R1P,TRIM11,OR2G2,C1orf198,ZNF670,WNT3A,H2AW,ZNF496,DISP1,OR14L1P,OR2B11,COX20,SNAP47,C1orf131,OR2T12,EDARADD,TGIF2P1,DNAH14,MRPL55,OR2M5,OR2AJ1,NLRP3,H2BU1,OR2M3,WDR64,XRCC6P3,OR2T4,OR2T34,OR14C36,CCSAP,OR2T11,OR2T10,B3GALNT2,LINC01341,EXOC8,SLC35F3,HSD17B7P1,RNF187,GCSAML,TRIM67-AS1,CNIH3,BROX,PLD5,IBA57,TUBB8P6,C1orf100,CNST,SDE2,CCDC185,HLX,GALNT2,HNRNPU,FTH1P2,GUK1,H3-3A,GNG4,OR14A16,OR2L13,CATSPERE,TUBB8P9,PGBD2,OR2T6,LINC01743,ZNF678,VN1R5,OR2W3,OR6F1,LIN9,OR2T8,OR2T3,PRSS38,OR2T29,LINC02774,MORF4L1P1,H2BU2P,OR14K1,LINC01139,IRF2BP2,STUM,LINC02897,OR2M1P,OR14A2,FAM89A,CAPN8,COA6,CYCSP5,MIA3,KRT18P32,OR2G6,CIAO2AP2,TUBB8P10,OR2M7,OR11L1,RPL23AP15,OR2AK2,LINC02817,RSL24D1P4,FAM177B,CDKN2AIPNLP1,OR2T33,RPS3AP7,OR2L3,OR2L8,OR2M2,GTF2IP20,OR2T2,TRIM67,RPS7P3,OR2T5,OR2T27,ZNF847P,OR2X1P,OR2T32P,MIR215,AKR1B1P1,OR2AS2P,OR2T35,RPL35P1,MAP1LC3C,OR14I1,MIR194-1,OR13G1,VN1R17P,IBA57-DT,OBSCN-AS1,OR3D1P,BTF3P9,DUSP5P1,OR2W5P,BECN2,RPL10AP5,MT1HL1,CICP26,CFL1P4,RPS7P5,NDUFA3P3,SNRPD2P2,THAP12P8,LYPD8,HMGB1P26,ACTBP11,RPL23AP20,SNORA36B,TMEM78,SNORA14B,CICP13,LINC01347,ZNF731P,LINC01348,CICP5,RPSAP21,NUCKS1P1,CLK3P2,BTNL10,MIPEPP2,PRELID3BP1,KIF28P,RPS15AP12,MARK1,KCNK1,NID1,LGALS8,NVL,ITPKB,MTR,LBR,RNA5S9,RNA5S10,RNA5S8,RNA5S2,RNA5S6,RNA5S15,ADH5P3,RNA5S16,DPY19L4P1,RNA5S14,RNA5S13,RNA5S1,RNA5S4,RNA5S5,RNA5S3,RNA5S17,RNA5S7,RNA5S11,RNA5S12,RPS21P1,RPS27P5,LDHAP2,LINC00582,LGALS8-AS1,RPL23AP23,ISCA1P2,SEPTIN7P13,RPL35AP6,HNRNPA1P42,SNX2P1,MIR1182,LINC00184,NDUFB1P2,MIR320B2,TSNAX-DISC1,MIR1537,MIR664A,HDAC1P2,RFKP1,FGFR3P6,FAM133FP,CICP21,FCF1P7,QRSL1P2,TAF1A-AS1,MIR3620,RNY4P16,MIR3124,MIR3123,MIR3916,MTRNR2L11,MIR4753,LINC01354,ITPKB-IT1,LINC01132,MIR4427,FABP7P1,LINC02809,MIR4671,CHRM3-AS2,ZNF670-ZNF695,MIR4677,MIR4428,MIR4666A,RNA5SP80,RNA5SP18,RNA5SP77,RNA5SP76,MTND3P8,RNA5SP82,RNA5SP79,MIR5008,MTND4P10,RNA5SP78,RNA5SP19,MTND5P18,DNAJC19P8,MTND5P19,YBX1P9,MIR4742,RNA5SP162,AKT3-IT1,SNRPEP10,ITPKB-AS1,SNAP47-AS1,CHRM3-AS1,RNU5A-5P,RNU5F-8P,HMGN2P19,HLX-AS1,LYST-AS1,RAC1P7,LINC01736,COA6-AS1,YWHAQP9,LINC01744,LINC01737,LINC01682,RAB4A,RYR2,RGS7,PSEN2,LYPD9P,LINC01655,SMYD3-AS1,LINC01352,MIR6742,SLC35F3-AS1,CNIH3-AS2,MIR6741,DISC1-IT1,LINC02257,LINC02779,LINC02768,LINC01745,CNIH3-AS1,LINC01703,LINC02765,LINC02815,RN7SKP276,RN7SL148P,SMYD3-IT1,MTND6P15,RN7SL299P,RN7SKP55,CHCHD4P5,MTND6P14,TLR5,GPR137B,SRP9,AURKAP1,TSNAX,LEFTY2,TP53BP2,TARBP1,TBCE,RNU6-1205P,RNU6-999P,RNU1-74P,SEPTIN14P17,RNU2-70P,RNU6-791P,RN7SL668P,RNU6-1304P,RNU4-57P,RNU6-1319P,RNU6-1211P,RN7SKP165,RNU6-747P,RNU6-1248P,RNU6-947P,RNU6-180P,RN7SL464P,RNU6ATAC35P,RN7SKP49,RNU6-403P,RN7SL837P,RNU4-21P,RNU4-77P,RNU6-725P,RN7SKP12,RNU1-132P,RNU6-1089P,MTCO3P46,RNU6-1283P,MTCYBP14,RNU6-1008P,AHCYP8,MTCYBP15,MTND4LP21,SEPTIN14P21,RNU6-968P,RN7SKP195,MTCO1P38,LINC01705,DNAJB6P6,LINC02813,ACBD3-AS1,LINC01641,KIF26B-AS1,LINC02474,LINC02814,WNT9A,GNPAT,ZNF124,H3-4,TAF1A,CDC42BPA,DEGS1,KMO,H3-3A-DT,TMEM63A,URB2,GGPS1,TOMM20,EXO1,CEP170,AKT3,ZBTB18,COG2,SDCCAG8,CAPN9,DUSP10,LEFTY1,BPNT1,RBM34,OR2L2,ABCB10,FBXO28,OR2M4,RAB3GAP2,OPN3,TRIM58,OR1C1,OR2L1P,AHCTF1
Controls
No Control Data Available
No Animal Model Data Available