13q12.11-q34CNV Type: Duplication
Largest CNV size: 95654893 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Mosaic duplication identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)
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
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
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
95654893
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
95669883
0
3
3
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
95654893
NA
NA
NA
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
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)
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
girirajan_12_ASD/DD/ID_discovery_cases-case38091
NA
NA
Developmental delay
NA
NA
18982805
114326261
95343457
GRCh38
Duplication (mosaic)
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002049
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18946182
114304628
95358447
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003768
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19837395
114327173
94489779
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005084
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19837395
114327173
94489779
GRCh38
Duplication
Yes
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-case38091
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
LINC00442,USP24P1,GTF2IP3,RNA5SP24,TUBA3C,MRPL3P1,LINC00421,CCNQP3,CYCSP32,ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,NME1P1,MTND3P1,FTH1P7,DDX39AP1,RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,CYCSP33,PSPC1P2,RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,SLC25A15P3,RPL34P27,LSP1P1,PABPC3,LINC00463,RPL23AP69,ELOBP1,RNU6-78P,RN7SL741P,RNY1P3,LINC00415,PRUNEP1,THAP12P6,RPS3AP44,GPR12,FGFR1OP2P1,RPS21P8,RPS20P32,LINC00412,RPL21,SNORD102,SNORA27,RASL11A,RNU6-70P,LINC01079,RNY1P1,RNU6-63P,NPM1P4,GSX1,RNU6-73P,PDX1,ATP5F1EP2,LINC00543,RN7SL272P,KATNBL1P1,CHCHD2P8,PAN3-AS1,EEF1A1P3,RNU6-82P,EIF4A1P7,RNU6-53P,CYP51A1P2,POM121L13P,GAPDHP69,MTUS2-AS1,TIMM8BP1,LINC00572,LINC00365,LINC00384,LINC00385,RNU6-64P,PRDX2P1,LINC00427,LINC01058,MFAP1P1,PTPN2P2,LINC00398,LINC00545,LINC01066,ANKRD26P4,EEF1DP3,IFIT1P1,ATP8A2P2,RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,VDAC1P12,GAMTP2,SCAND3P1,PHBP13,MAB21L1,LINC00445,RNU6-71P,HIST1H2APS6,GAPDHP34,TCEAL4P1,ARL2BPP3,NDE1P2,RFXAP,SMAD9-IT1,LAMTOR3P1,RPL29P28,EIF4A1P5,EXOSC8,CSNK1A1L,RN7SKP1,RPS12P24,LINC01048,RNA5SP26,LINC00366,PRDX3P3,RNU6-56P,FREM2-AS1,PLA2G12AP2,NXT1P1,MIR4305,RNY4P14,CDKN2AIPNLP3,AZU1P1,LINC00332,RPL17P51,RNY3P9,RN7SKP2,RLIMP1,MIR320D1,MIR621,CYCSP34,RGS17P1,MIR3168,RN7SL597P,KBTBD6,CALM2P3,KBTBD7,MORF4L1P4,RAC1P3,RNU6-57P,TUBBP2,OR7E36P,OR7E155P,OR7E37P,MIR5006,RN7SL515P,RNU6-74P,RPS28P8,MAPK6P3,CHCHD2P11,FHP1,FABP3P2,FAM216B,LINC00428,ZDHHC4P1,LINC00400,RPL36P19,ENOX1-AS2,ENOX1-AS1,DGKZP1,MIR8079,TSC22D1-AS1,SMARCE1P5,LINC00330,RN7SL49P,RN7SKP3,RN7SKP4,KCTD4,SNORA31,RCN1P2,SLC25A30-AS1,PPIAP25,RNA5SP27,TIMM9P3,COX4I1P2,AKR1B1P4,RN7SL288P,RN7SKP5,FAM206BP,LINC00563,RNU2-6P,RNU6-68P,PPP1R2P4,OR7E101P,COX17P1,FKBP1AP3,HTR2A-AS1,GNG5P5,RN7SL700P,NAP1L4P3,RPL27AP8,LINC00562,SUCLA2-AS1,MED4-AS1,POLR2KP2,PPP1R26P1,PCNPP5,LINC01077,LINC00462,PSME2P2,RNU6-60P,RAD17P2,RNY3P2,COX7CP1,OGFOD1P1,MLNR,SNRPGP14,ARL11,RNY4P30,CTAGE10P,RNY4P9,MIR3613,MIR16-1,MIR15A,RPL18P10,ST13P4,RPL34P26,DLEU1-AS1,RNA5SP28,RNA5SP29,RPL5P31,PRELID3BP2,MIR5693,RPS4XP16,RN7SL320P,SNRPGP11,MIR4703,RNU6-65P,RNY1P6,RN7SL413P,ATP5PBP1,CCDC70,CTAGE3P,FABP5P2,UTP14C,LINC02333,RNY4P24,LINC00345,HNRNPA1L2,MIR759,PPIAP26,PCDH8,PCDH8P1,RN7SL618P,ZNF646P1,MIR1297,RPL13AP25,MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53,RNA5SP30,RNY4P29,CTAGE16P,DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2,RNU7-88P,RN7SL375P,RNY4P28,LINC00434,TARDBPP2,RNA5SP31,RNY3P5,MIR3169,PCDH20,LINC02339,RAC1P8,LINC01074,RPL32P28,OR7E156P,RNU6-81P,PPP1R2P10,NFYAP1,LGMNP1,STARP1,HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,RNU7-87P,RPSAP53,LINC00364,BCRP9,NPM1P22,OR7E111P,ELL2P3,HNRNPA1P18,RPL37P21,RPS3AP52,RPL12P34,RN7SL761P,LINC02342,ZDHHC20P4,SNRPFP3,SRSF1P1,RNY3P10,RNU6-54P,MTCL1P1,RABEPKP1,H3F3BP1,RPL21P109,RPL35AP31,RPS10P21,RPL18AP17,RPL21P110,RNU6-80P,RNU6-79P,PSMD10P3,FABP5P1,RNU6-66P,RNU4-10P,RNY1P8,MARK2P12,RNY1P5,RPL21P108,RIOK3P1,RNU6-38P,SSR1P2,CTAGE11P,FAM204CP,LMO7DN-IT1,LINC00561,LINC01034,RN7SL571P,KCTD12,BTF3P11,RPL7P44,DHX9P1,MYCBP2-AS2,SCEL-AS1,RNY3P7,SPTLC1P5,MIR3665,EDNRB-AS1,RN7SL810P,LINC01069,SRGNP1,RNY3P3,RPL31P54,ELOCP23,POU4F1,RPL21P111,HSPD1P8,CCT5P2,NIPA2P5,BCAS2P3,RNA5SP33,LINC01068,LINC01038,SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,RNU6-67P,SLITRK1,VENTXP2,UBE2D3P4,MTND4P1,MTND5P3,LINC00333,MOB1AP1,DDX6P2,TXNL1P1,UBBP5,LIN28AP2,MIR4500,TET1P1,RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,SP3P,LINC00353,LINC02336,PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,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,SMPD4P2,PSPC1P1,ANKRD26P3,SLC25A15P2,MRPS31P2,LINC00350,PSPC1,ZMYM5,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,LINC00621,HMGA1P6,LINC00327,C1QTNF9,ATP12A,TPTE2P1,LINC01053,LINC01076,MTMR6,NUP58,SHISA2,ATP8A2P3,USP12-AS1,USP12-AS2,LINC02340,GTF3A,MTIF3,LNX2,PLUT,CDX2,URAD,POMP,MTUS2-AS2,SLC7A1,UBL3,LINC00544,LINC00426,UBE2L5,USPL1,ALOX5AP,MEDAG,HSPH1,RXFP2,FRY-AS1,ZAR1L,N4BP2L1,STARD13-AS,CCDC169,SPART-AS1,SERTM1,SMAD9,SUPT20H,LINC00547,POSTN,HSPD1P9,UFM1,STOML3,PROSER1,NHLRC3,SLC25A15,WBP4,MTRF1,NAA16,RGCC,KARSP1,VWA8-AS1,AKAP11,LINC01050,DNAJC15,CCDC122,LACC1,LINC00390,SMIM2,SMIM2-IT1,SERP2,TUSC8,GPALPP1,TPT1,SLC25A30,LINC01055,SPERT,SIAH3,CPB2-AS1,CPB2,LINC01198,HTR2A,NUDT15,MED4,RB1-DT,LPAR6,CYSLTR2,SETDB2,PHF11,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7-AS1,RNASEH2B-AS1,GUCY1B2,SERPINE3,TMEM272,ATP7B,ALG11,NEK3,MRPS31P5,THSD1,CKAP2,MRPS31P4,CNMD,OLFM4,LINC01065,LINC02335,LINC00374,DIAPH3-AS2,EIF4A1P6,LINC01442,LINC00358,LINC01075,LINC00459,SQSTM1P1,LINC00448,PCDH9-AS4,OR7E33P,LINC00550,LINC00383,PSMC1P13,MZT1,DIS3,KLF5,LINC00392,LINC00402,LINC00381,LINC00347,LINC01078,COMMD6,UCHL3,LMO7DN,ACOD1,CLN5,FBXL3,EDNRB,LINC00446,LINC00331,RBM26,RBM26-AS1,NDFIP2-AS1,NDFIP2,LINC00382,LINC01080,PTMAP5,SLITRK6,LINC00430,LINC00397,LINC01047,LINC00440,LINC01040,RPL7L1P1,LINC00559,LINC01049,LINC00410,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,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,PHF2P2,CENPIP1,PARP4P2,TPTE2,MPHOSPH8,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2,LINC00540,SGCG,SACS,TNFRSF19,MIPEP,SPATA13,TPTE2P6,PARP4,RNF17,CENPJ,ATP8A2,CDK8,WASF3,WASF3-AS1,USP12,POLR1D,FLT3,PAN3,SLC46A3,LINC00297,KATNAL1,HMGB1,RBM22P2,TEX26-AS1,TEX26,WDR95P,B3GLCT,FRY,BRCA2,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3,DCLK1,SOHLH2,CCDC169-SOHLH2,SPART,CCNA1,ALG5,LINC02334,LINC00571,LINC00437,ANKRD26P2,LHFPL6,COG6,LINC00598,FOXO1,MRPS31,ELF1,DGKH,LINC02341,TNFSF11,ENOX1,LINC00284,SMIM2-AS1,TSC22D1,LINC00407,NUFIP1,GTF2F2,TPT1-AS1,COG3,ERICH6B,ZC3H13,LRRC63,RUBCNL,LRCH1,ESD,SUCLA2,RB1,RCBTB2,FNDC3A,CAB39L,RCBTB1,EBPL,DLEU2,DLEU7,RNASEH2B,C13orf42,FAM124A,INTS6-AS1,WDFY2,DHRS12,NEK5,TPTE2P2,SUGT1,LINC00558,LINC00458,PRR20C,LINC02338,DIAPH3-AS1,TDRD3,LINC00378,LINC00376,LINC00395,OR7E104P,PCDH9-AS1,PCDH9-AS2,PCDH9-AS3,KLHL1,ATXN8OS,LINC00348,DACH1,BORA,PIBF1,LINC00393,KLF12,TBC1D4,LMO7-AS1,LMO7,MYCBP2-AS1,MYCBP2,SLAIN1,RNF219-AS1,LINC00375,LINC00351,MIR4500HG,SLITRK5,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,RNF6,FLT1,MTUS2,N4BP2L2,N4BP2L2-IT2,LINC02343,LINC00457,NBEA,TRPC4,FREM2,TPTE2P5,SUGT1P3,EPSTI1,LCP1,ITM2B,CDADC1,INTS6,VPS36,PCDH17,DIAPH3,LINC00355,SCEL,RNF219,GPC6,HS6ST3,STK24,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,AMER2,VWA8,DLEU1,GPC5,TMTC4,MYO16,PCDH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002049
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00442,USP24P1,GTF2IP3,RNA5SP24,TUBA3C,MRPL3P1,LINC00421,CCNQP3,CYCSP32,ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,NME1P1,MTND3P1,FTH1P7,DDX39AP1,RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,CYCSP33,PSPC1P2,RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,SLC25A15P3,RPL34P27,LSP1P1,PABPC3,LINC00463,RPL23AP69,ELOBP1,RNU6-78P,RN7SL741P,RNY1P3,LINC00415,PRUNEP1,THAP12P6,RPS3AP44,GPR12,FGFR1OP2P1,RPS21P8,RPS20P32,LINC00412,RPL21,SNORD102,SNORA27,RASL11A,RNU6-70P,LINC01079,RNY1P1,RNU6-63P,NPM1P4,GSX1,RNU6-73P,PDX1,ATP5F1EP2,LINC00543,RN7SL272P,KATNBL1P1,CHCHD2P8,PAN3-AS1,EEF1A1P3,RNU6-82P,EIF4A1P7,RNU6-53P,CYP51A1P2,POM121L13P,GAPDHP69,MTUS2-AS1,TIMM8BP1,LINC00572,LINC00365,LINC00384,LINC00385,RNU6-64P,PRDX2P1,LINC00427,LINC01058,MFAP1P1,PTPN2P2,LINC00398,LINC00545,LINC01066,ANKRD26P4,EEF1DP3,IFIT1P1,ATP8A2P2,RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,VDAC1P12,GAMTP2,SCAND3P1,PHBP13,MAB21L1,LINC00445,RNU6-71P,HIST1H2APS6,GAPDHP34,TCEAL4P1,ARL2BPP3,NDE1P2,RFXAP,SMAD9-IT1,LAMTOR3P1,RPL29P28,EIF4A1P5,EXOSC8,CSNK1A1L,RN7SKP1,RPS12P24,LINC01048,RNA5SP26,LINC00366,PRDX3P3,RNU6-56P,FREM2-AS1,PLA2G12AP2,NXT1P1,MIR4305,RNY4P14,CDKN2AIPNLP3,AZU1P1,LINC00332,RPL17P51,RNY3P9,RN7SKP2,RLIMP1,MIR320D1,MIR621,CYCSP34,RGS17P1,MIR3168,RN7SL597P,KBTBD6,CALM2P3,KBTBD7,MORF4L1P4,RAC1P3,RNU6-57P,TUBBP2,OR7E36P,OR7E155P,OR7E37P,MIR5006,RN7SL515P,RNU6-74P,RPS28P8,MAPK6P3,CHCHD2P11,FHP1,FABP3P2,FAM216B,LINC00428,ZDHHC4P1,LINC00400,RPL36P19,ENOX1-AS2,ENOX1-AS1,DGKZP1,MIR8079,TSC22D1-AS1,SMARCE1P5,LINC00330,RN7SL49P,RN7SKP3,RN7SKP4,KCTD4,SNORA31,RCN1P2,SLC25A30-AS1,PPIAP25,RNA5SP27,TIMM9P3,COX4I1P2,AKR1B1P4,RN7SL288P,RN7SKP5,FAM206BP,LINC00563,RNU2-6P,RNU6-68P,PPP1R2P4,OR7E101P,COX17P1,FKBP1AP3,HTR2A-AS1,GNG5P5,RN7SL700P,NAP1L4P3,RPL27AP8,LINC00562,SUCLA2-AS1,MED4-AS1,POLR2KP2,PPP1R26P1,PCNPP5,LINC01077,LINC00462,PSME2P2,RNU6-60P,RAD17P2,RNY3P2,COX7CP1,OGFOD1P1,MLNR,SNRPGP14,ARL11,RNY4P30,CTAGE10P,RNY4P9,MIR3613,MIR16-1,MIR15A,RPL18P10,ST13P4,RPL34P26,DLEU1-AS1,RNA5SP28,RNA5SP29,RPL5P31,PRELID3BP2,MIR5693,RPS4XP16,RN7SL320P,SNRPGP11,MIR4703,RNU6-65P,RNY1P6,RN7SL413P,ATP5PBP1,CCDC70,CTAGE3P,FABP5P2,UTP14C,LINC02333,RNY4P24,LINC00345,HNRNPA1L2,MIR759,PPIAP26,PCDH8,PCDH8P1,RN7SL618P,ZNF646P1,MIR1297,RPL13AP25,MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53,RNA5SP30,RNY4P29,CTAGE16P,DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2,RNU7-88P,RN7SL375P,RNY4P28,LINC00434,TARDBPP2,RNA5SP31,RNY3P5,MIR3169,PCDH20,LINC02339,RAC1P8,LINC01074,RPL32P28,OR7E156P,RNU6-81P,PPP1R2P10,NFYAP1,LGMNP1,STARP1,HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,RNU7-87P,RPSAP53,LINC00364,BCRP9,NPM1P22,OR7E111P,ELL2P3,HNRNPA1P18,RPL37P21,RPS3AP52,RPL12P34,RN7SL761P,LINC02342,ZDHHC20P4,SNRPFP3,SRSF1P1,RNY3P10,RNU6-54P,MTCL1P1,RABEPKP1,H3F3BP1,RPL21P109,RPL35AP31,RPS10P21,RPL18AP17,RPL21P110,RNU6-80P,RNU6-79P,PSMD10P3,FABP5P1,RNU6-66P,RNU4-10P,RNY1P8,MARK2P12,RNY1P5,RPL21P108,RIOK3P1,RNU6-38P,SSR1P2,CTAGE11P,FAM204CP,LMO7DN-IT1,LINC00561,LINC01034,RN7SL571P,KCTD12,BTF3P11,RPL7P44,DHX9P1,MYCBP2-AS2,SCEL-AS1,RNY3P7,SPTLC1P5,MIR3665,EDNRB-AS1,RN7SL810P,LINC01069,SRGNP1,RNY3P3,RPL31P54,ELOCP23,POU4F1,RPL21P111,HSPD1P8,CCT5P2,NIPA2P5,BCAS2P3,RNA5SP33,LINC01068,LINC01038,SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,RNU6-67P,SLITRK1,VENTXP2,UBE2D3P4,MTND4P1,MTND5P3,LINC00333,MOB1AP1,DDX6P2,TXNL1P1,UBBP5,LIN28AP2,MIR4500,TET1P1,RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,SP3P,LINC00353,LINC02336,PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,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,SMPD4P2,PSPC1P1,ANKRD26P3,SLC25A15P2,MRPS31P2,LINC00350,PSPC1,ZMYM5,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,LINC00621,HMGA1P6,LINC00327,C1QTNF9,ATP12A,TPTE2P1,LINC01053,LINC01076,MTMR6,NUP58,SHISA2,ATP8A2P3,USP12-AS1,USP12-AS2,LINC02340,GTF3A,MTIF3,LNX2,PLUT,CDX2,URAD,POMP,MTUS2-AS2,SLC7A1,UBL3,LINC00544,LINC00426,UBE2L5,USPL1,ALOX5AP,MEDAG,HSPH1,RXFP2,FRY-AS1,ZAR1L,N4BP2L1,STARD13-AS,CCDC169,SPART-AS1,SERTM1,SMAD9,SUPT20H,LINC00547,POSTN,HSPD1P9,UFM1,STOML3,PROSER1,NHLRC3,SLC25A15,WBP4,MTRF1,NAA16,RGCC,KARSP1,VWA8-AS1,AKAP11,LINC01050,DNAJC15,CCDC122,LACC1,LINC00390,SMIM2,SMIM2-IT1,SERP2,TUSC8,GPALPP1,TPT1,SLC25A30,LINC01055,SPERT,SIAH3,CPB2-AS1,CPB2,LINC01198,HTR2A,NUDT15,MED4,RB1-DT,LPAR6,CYSLTR2,SETDB2,PHF11,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7-AS1,RNASEH2B-AS1,GUCY1B2,SERPINE3,TMEM272,ATP7B,ALG11,NEK3,MRPS31P5,THSD1,CKAP2,MRPS31P4,CNMD,OLFM4,LINC01065,LINC02335,LINC00374,DIAPH3-AS2,EIF4A1P6,LINC01442,LINC00358,LINC01075,LINC00459,SQSTM1P1,LINC00448,PCDH9-AS4,OR7E33P,LINC00550,LINC00383,PSMC1P13,MZT1,DIS3,KLF5,LINC00392,LINC00402,LINC00381,LINC00347,LINC01078,COMMD6,UCHL3,LMO7DN,ACOD1,CLN5,FBXL3,EDNRB,LINC00446,LINC00331,RBM26,RBM26-AS1,NDFIP2-AS1,NDFIP2,LINC00382,LINC01080,PTMAP5,SLITRK6,LINC00430,LINC00397,LINC01047,LINC00440,LINC01040,RPL7L1P1,LINC00559,LINC01049,LINC00410,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,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,PHF2P2,CENPIP1,PARP4P2,TPTE2,MPHOSPH8,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2,LINC00540,SGCG,SACS,TNFRSF19,MIPEP,SPATA13,TPTE2P6,PARP4,RNF17,CENPJ,ATP8A2,CDK8,WASF3,WASF3-AS1,USP12,POLR1D,FLT3,PAN3,SLC46A3,LINC00297,KATNAL1,HMGB1,RBM22P2,TEX26-AS1,TEX26,WDR95P,B3GLCT,FRY,BRCA2,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3,DCLK1,SOHLH2,CCDC169-SOHLH2,SPART,CCNA1,ALG5,LINC02334,LINC00571,LINC00437,ANKRD26P2,LHFPL6,COG6,LINC00598,FOXO1,MRPS31,ELF1,DGKH,LINC02341,TNFSF11,ENOX1,LINC00284,SMIM2-AS1,TSC22D1,LINC00407,NUFIP1,GTF2F2,TPT1-AS1,COG3,ERICH6B,ZC3H13,LRRC63,RUBCNL,LRCH1,ESD,SUCLA2,RB1,RCBTB2,FNDC3A,CAB39L,RCBTB1,EBPL,DLEU2,DLEU7,RNASEH2B,C13orf42,FAM124A,INTS6-AS1,WDFY2,DHRS12,NEK5,TPTE2P2,SUGT1,LINC00558,LINC00458,PRR20C,LINC02338,DIAPH3-AS1,TDRD3,LINC00378,LINC00376,LINC00395,OR7E104P,PCDH9-AS1,PCDH9-AS2,PCDH9-AS3,KLHL1,ATXN8OS,LINC00348,DACH1,BORA,PIBF1,LINC00393,KLF12,TBC1D4,LMO7-AS1,LMO7,MYCBP2-AS1,MYCBP2,SLAIN1,RNF219-AS1,LINC00375,LINC00351,MIR4500HG,SLITRK5,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,RNF6,FLT1,MTUS2,N4BP2L2,N4BP2L2-IT2,LINC02343,LINC00457,NBEA,TRPC4,FREM2,TPTE2P5,SUGT1P3,EPSTI1,LCP1,ITM2B,CDADC1,INTS6,VPS36,PCDH17,DIAPH3,LINC00355,SCEL,RNF219,GPC6,HS6ST3,STK24,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,AMER2,VWA8,DLEU1,GPC5,TMTC4,MYO16,PCDH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003768
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,NME1P1,MTND3P1,FTH1P7,DDX39AP1,RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,CYCSP33,PSPC1P2,RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,SLC25A15P3,RPL34P27,LSP1P1,PABPC3,LINC00463,RPL23AP69,ELOBP1,RNU6-78P,RN7SL741P,RNY1P3,LINC00415,PRUNEP1,THAP12P6,RPS3AP44,GPR12,FGFR1OP2P1,RPS21P8,RPS20P32,LINC00412,RPL21,SNORD102,SNORA27,RASL11A,RNU6-70P,LINC01079,RNY1P1,RNU6-63P,NPM1P4,GSX1,RNU6-73P,PDX1,ATP5F1EP2,LINC00543,RN7SL272P,KATNBL1P1,CHCHD2P8,PAN3-AS1,EEF1A1P3,RNU6-82P,EIF4A1P7,RNU6-53P,CYP51A1P2,POM121L13P,GAPDHP69,MTUS2-AS1,TIMM8BP1,LINC00572,LINC00365,LINC00384,LINC00385,RNU6-64P,PRDX2P1,LINC00427,LINC01058,MFAP1P1,PTPN2P2,LINC00398,LINC00545,LINC01066,ANKRD26P4,EEF1DP3,IFIT1P1,ATP8A2P2,RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,VDAC1P12,GAMTP2,SCAND3P1,PHBP13,MAB21L1,LINC00445,RNU6-71P,HIST1H2APS6,GAPDHP34,TCEAL4P1,ARL2BPP3,NDE1P2,RFXAP,SMAD9-IT1,LAMTOR3P1,RPL29P28,EIF4A1P5,EXOSC8,CSNK1A1L,RN7SKP1,RPS12P24,LINC01048,RNA5SP26,LINC00366,PRDX3P3,RNU6-56P,FREM2-AS1,PLA2G12AP2,NXT1P1,MIR4305,RNY4P14,CDKN2AIPNLP3,AZU1P1,LINC00332,RPL17P51,RNY3P9,RN7SKP2,RLIMP1,MIR320D1,MIR621,CYCSP34,RGS17P1,MIR3168,RN7SL597P,KBTBD6,CALM2P3,KBTBD7,MORF4L1P4,RAC1P3,RNU6-57P,TUBBP2,OR7E36P,OR7E155P,OR7E37P,MIR5006,RN7SL515P,RNU6-74P,RPS28P8,MAPK6P3,CHCHD2P11,FHP1,FABP3P2,FAM216B,LINC00428,ZDHHC4P1,LINC00400,RPL36P19,ENOX1-AS2,ENOX1-AS1,DGKZP1,MIR8079,TSC22D1-AS1,SMARCE1P5,LINC00330,RN7SL49P,RN7SKP3,RN7SKP4,KCTD4,SNORA31,RCN1P2,SLC25A30-AS1,PPIAP25,RNA5SP27,TIMM9P3,COX4I1P2,AKR1B1P4,RN7SL288P,RN7SKP5,FAM206BP,LINC00563,RNU2-6P,RNU6-68P,PPP1R2P4,OR7E101P,COX17P1,FKBP1AP3,HTR2A-AS1,GNG5P5,RN7SL700P,NAP1L4P3,RPL27AP8,LINC00562,SUCLA2-AS1,MED4-AS1,POLR2KP2,PPP1R26P1,PCNPP5,LINC01077,LINC00462,PSME2P2,RNU6-60P,RAD17P2,RNY3P2,COX7CP1,OGFOD1P1,MLNR,SNRPGP14,ARL11,RNY4P30,CTAGE10P,RNY4P9,MIR3613,MIR16-1,MIR15A,RPL18P10,ST13P4,RPL34P26,DLEU1-AS1,RNA5SP28,RNA5SP29,RPL5P31,PRELID3BP2,MIR5693,RPS4XP16,RN7SL320P,SNRPGP11,MIR4703,RNU6-65P,RNY1P6,RN7SL413P,ATP5PBP1,CCDC70,CTAGE3P,FABP5P2,UTP14C,LINC02333,RNY4P24,LINC00345,HNRNPA1L2,MIR759,PPIAP26,PCDH8,PCDH8P1,RN7SL618P,ZNF646P1,MIR1297,RPL13AP25,MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53,RNA5SP30,RNY4P29,CTAGE16P,DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2,RNU7-88P,RN7SL375P,RNY4P28,LINC00434,TARDBPP2,RNA5SP31,RNY3P5,MIR3169,PCDH20,LINC02339,RAC1P8,LINC01074,RPL32P28,OR7E156P,RNU6-81P,PPP1R2P10,NFYAP1,LGMNP1,STARP1,HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,RNU7-87P,RPSAP53,LINC00364,BCRP9,NPM1P22,OR7E111P,ELL2P3,HNRNPA1P18,RPL37P21,RPS3AP52,RPL12P34,RN7SL761P,LINC02342,ZDHHC20P4,SNRPFP3,SRSF1P1,RNY3P10,RNU6-54P,MTCL1P1,RABEPKP1,H3F3BP1,RPL21P109,RPL35AP31,RPS10P21,RPL18AP17,RPL21P110,RNU6-80P,RNU6-79P,PSMD10P3,FABP5P1,RNU6-66P,RNU4-10P,RNY1P8,MARK2P12,RNY1P5,RPL21P108,RIOK3P1,RNU6-38P,SSR1P2,CTAGE11P,FAM204CP,LMO7DN-IT1,LINC00561,LINC01034,RN7SL571P,KCTD12,BTF3P11,RPL7P44,DHX9P1,MYCBP2-AS2,SCEL-AS1,RNY3P7,SPTLC1P5,MIR3665,EDNRB-AS1,RN7SL810P,LINC01069,SRGNP1,RNY3P3,RPL31P54,ELOCP23,POU4F1,RPL21P111,HSPD1P8,CCT5P2,NIPA2P5,BCAS2P3,RNA5SP33,LINC01068,LINC01038,SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,RNU6-67P,SLITRK1,VENTXP2,UBE2D3P4,MTND4P1,MTND5P3,LINC00333,MOB1AP1,DDX6P2,TXNL1P1,UBBP5,LIN28AP2,MIR4500,TET1P1,RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,SP3P,LINC00353,LINC02336,PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,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,ZMYM5,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,LINC00621,HMGA1P6,LINC00327,C1QTNF9,ATP12A,TPTE2P1,LINC01053,LINC01076,MTMR6,NUP58,SHISA2,ATP8A2P3,USP12-AS1,USP12-AS2,LINC02340,GTF3A,MTIF3,LNX2,PLUT,CDX2,URAD,POMP,MTUS2-AS2,SLC7A1,UBL3,LINC00544,LINC00426,UBE2L5,USPL1,ALOX5AP,MEDAG,HSPH1,RXFP2,FRY-AS1,ZAR1L,N4BP2L1,STARD13-AS,CCDC169,SPART-AS1,SERTM1,SMAD9,SUPT20H,LINC00547,POSTN,HSPD1P9,UFM1,STOML3,PROSER1,NHLRC3,SLC25A15,WBP4,MTRF1,NAA16,RGCC,KARSP1,VWA8-AS1,AKAP11,LINC01050,DNAJC15,CCDC122,LACC1,LINC00390,SMIM2,SMIM2-IT1,SERP2,TUSC8,GPALPP1,TPT1,SLC25A30,LINC01055,SPERT,SIAH3,CPB2-AS1,CPB2,LINC01198,HTR2A,NUDT15,MED4,RB1-DT,LPAR6,CYSLTR2,SETDB2,PHF11,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7-AS1,RNASEH2B-AS1,GUCY1B2,SERPINE3,TMEM272,ATP7B,ALG11,NEK3,MRPS31P5,THSD1,CKAP2,MRPS31P4,CNMD,OLFM4,LINC01065,LINC02335,LINC00374,DIAPH3-AS2,EIF4A1P6,LINC01442,LINC00358,LINC01075,LINC00459,SQSTM1P1,LINC00448,PCDH9-AS4,OR7E33P,LINC00550,LINC00383,PSMC1P13,MZT1,DIS3,KLF5,LINC00392,LINC00402,LINC00381,LINC00347,LINC01078,COMMD6,UCHL3,LMO7DN,ACOD1,CLN5,FBXL3,EDNRB,LINC00446,LINC00331,RBM26,RBM26-AS1,NDFIP2-AS1,NDFIP2,LINC00382,LINC01080,PTMAP5,SLITRK6,LINC00430,LINC00397,LINC01047,LINC00440,LINC01040,RPL7L1P1,LINC00559,LINC01049,LINC00410,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,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,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2,LINC00540,SGCG,SACS,TNFRSF19,MIPEP,SPATA13,TPTE2P6,PARP4,RNF17,CENPJ,ATP8A2,CDK8,WASF3,WASF3-AS1,USP12,POLR1D,FLT3,PAN3,SLC46A3,LINC00297,KATNAL1,HMGB1,RBM22P2,TEX26-AS1,TEX26,WDR95P,B3GLCT,FRY,BRCA2,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3,DCLK1,SOHLH2,CCDC169-SOHLH2,SPART,CCNA1,ALG5,LINC02334,LINC00571,LINC00437,ANKRD26P2,LHFPL6,COG6,LINC00598,FOXO1,MRPS31,ELF1,DGKH,LINC02341,TNFSF11,ENOX1,LINC00284,SMIM2-AS1,TSC22D1,LINC00407,NUFIP1,GTF2F2,TPT1-AS1,COG3,ERICH6B,ZC3H13,LRRC63,RUBCNL,LRCH1,ESD,SUCLA2,RB1,RCBTB2,FNDC3A,CAB39L,RCBTB1,EBPL,DLEU2,DLEU7,RNASEH2B,C13orf42,FAM124A,INTS6-AS1,WDFY2,DHRS12,NEK5,TPTE2P2,SUGT1,LINC00558,LINC00458,PRR20C,LINC02338,DIAPH3-AS1,TDRD3,LINC00378,LINC00376,LINC00395,OR7E104P,PCDH9-AS1,PCDH9-AS2,PCDH9-AS3,KLHL1,ATXN8OS,LINC00348,DACH1,BORA,PIBF1,LINC00393,KLF12,TBC1D4,LMO7-AS1,LMO7,MYCBP2-AS1,MYCBP2,SLAIN1,RNF219-AS1,LINC00375,LINC00351,MIR4500HG,SLITRK5,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,RNF6,FLT1,MTUS2,N4BP2L2,N4BP2L2-IT2,LINC02343,LINC00457,NBEA,TRPC4,FREM2,TPTE2P5,SUGT1P3,EPSTI1,LCP1,ITM2B,CDADC1,INTS6,VPS36,PCDH17,DIAPH3,LINC00355,SCEL,RNF219,GPC6,HS6ST3,STK24,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,AMER2,VWA8,DLEU1,GPC5,TMTC4,MYO16,PCDH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005084
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,NME1P1,MTND3P1,FTH1P7,DDX39AP1,RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,CYCSP33,PSPC1P2,RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,SLC25A15P3,RPL34P27,LSP1P1,PABPC3,LINC00463,RPL23AP69,ELOBP1,RNU6-78P,RN7SL741P,RNY1P3,LINC00415,PRUNEP1,THAP12P6,RPS3AP44,GPR12,FGFR1OP2P1,RPS21P8,RPS20P32,LINC00412,RPL21,SNORD102,SNORA27,RASL11A,RNU6-70P,LINC01079,RNY1P1,RNU6-63P,NPM1P4,GSX1,RNU6-73P,PDX1,ATP5F1EP2,LINC00543,RN7SL272P,KATNBL1P1,CHCHD2P8,PAN3-AS1,EEF1A1P3,RNU6-82P,EIF4A1P7,RNU6-53P,CYP51A1P2,POM121L13P,GAPDHP69,MTUS2-AS1,TIMM8BP1,LINC00572,LINC00365,LINC00384,LINC00385,RNU6-64P,PRDX2P1,LINC00427,LINC01058,MFAP1P1,PTPN2P2,LINC00398,LINC00545,LINC01066,ANKRD26P4,EEF1DP3,IFIT1P1,ATP8A2P2,RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,VDAC1P12,GAMTP2,SCAND3P1,PHBP13,MAB21L1,LINC00445,RNU6-71P,HIST1H2APS6,GAPDHP34,TCEAL4P1,ARL2BPP3,NDE1P2,RFXAP,SMAD9-IT1,LAMTOR3P1,RPL29P28,EIF4A1P5,EXOSC8,CSNK1A1L,RN7SKP1,RPS12P24,LINC01048,RNA5SP26,LINC00366,PRDX3P3,RNU6-56P,FREM2-AS1,PLA2G12AP2,NXT1P1,MIR4305,RNY4P14,CDKN2AIPNLP3,AZU1P1,LINC00332,RPL17P51,RNY3P9,RN7SKP2,RLIMP1,MIR320D1,MIR621,CYCSP34,RGS17P1,MIR3168,RN7SL597P,KBTBD6,CALM2P3,KBTBD7,MORF4L1P4,RAC1P3,RNU6-57P,TUBBP2,OR7E36P,OR7E155P,OR7E37P,MIR5006,RN7SL515P,RNU6-74P,RPS28P8,MAPK6P3,CHCHD2P11,FHP1,FABP3P2,FAM216B,LINC00428,ZDHHC4P1,LINC00400,RPL36P19,ENOX1-AS2,ENOX1-AS1,DGKZP1,MIR8079,TSC22D1-AS1,SMARCE1P5,LINC00330,RN7SL49P,RN7SKP3,RN7SKP4,KCTD4,SNORA31,RCN1P2,SLC25A30-AS1,PPIAP25,RNA5SP27,TIMM9P3,COX4I1P2,AKR1B1P4,RN7SL288P,RN7SKP5,FAM206BP,LINC00563,RNU2-6P,RNU6-68P,PPP1R2P4,OR7E101P,COX17P1,FKBP1AP3,HTR2A-AS1,GNG5P5,RN7SL700P,NAP1L4P3,RPL27AP8,LINC00562,SUCLA2-AS1,MED4-AS1,POLR2KP2,PPP1R26P1,PCNPP5,LINC01077,LINC00462,PSME2P2,RNU6-60P,RAD17P2,RNY3P2,COX7CP1,OGFOD1P1,MLNR,SNRPGP14,ARL11,RNY4P30,CTAGE10P,RNY4P9,MIR3613,MIR16-1,MIR15A,RPL18P10,ST13P4,RPL34P26,DLEU1-AS1,RNA5SP28,RNA5SP29,RPL5P31,PRELID3BP2,MIR5693,RPS4XP16,RN7SL320P,SNRPGP11,MIR4703,RNU6-65P,RNY1P6,RN7SL413P,ATP5PBP1,CCDC70,CTAGE3P,FABP5P2,UTP14C,LINC02333,RNY4P24,LINC00345,HNRNPA1L2,MIR759,PPIAP26,PCDH8,PCDH8P1,RN7SL618P,ZNF646P1,MIR1297,RPL13AP25,MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53,RNA5SP30,RNY4P29,CTAGE16P,DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2,RNU7-88P,RN7SL375P,RNY4P28,LINC00434,TARDBPP2,RNA5SP31,RNY3P5,MIR3169,PCDH20,LINC02339,RAC1P8,LINC01074,RPL32P28,OR7E156P,RNU6-81P,PPP1R2P10,NFYAP1,LGMNP1,STARP1,HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,RNU7-87P,RPSAP53,LINC00364,BCRP9,NPM1P22,OR7E111P,ELL2P3,HNRNPA1P18,RPL37P21,RPS3AP52,RPL12P34,RN7SL761P,LINC02342,ZDHHC20P4,SNRPFP3,SRSF1P1,RNY3P10,RNU6-54P,MTCL1P1,RABEPKP1,H3F3BP1,RPL21P109,RPL35AP31,RPS10P21,RPL18AP17,RPL21P110,RNU6-80P,RNU6-79P,PSMD10P3,FABP5P1,RNU6-66P,RNU4-10P,RNY1P8,MARK2P12,RNY1P5,RPL21P108,RIOK3P1,RNU6-38P,SSR1P2,CTAGE11P,FAM204CP,LMO7DN-IT1,LINC00561,LINC01034,RN7SL571P,KCTD12,BTF3P11,RPL7P44,DHX9P1,MYCBP2-AS2,SCEL-AS1,RNY3P7,SPTLC1P5,MIR3665,EDNRB-AS1,RN7SL810P,LINC01069,SRGNP1,RNY3P3,RPL31P54,ELOCP23,POU4F1,RPL21P111,HSPD1P8,CCT5P2,NIPA2P5,BCAS2P3,RNA5SP33,LINC01068,LINC01038,SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,RNU6-67P,SLITRK1,VENTXP2,UBE2D3P4,MTND4P1,MTND5P3,LINC00333,MOB1AP1,DDX6P2,TXNL1P1,UBBP5,LIN28AP2,MIR4500,TET1P1,RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,SP3P,LINC00353,LINC02336,PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,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,ZMYM5,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,LINC00621,HMGA1P6,LINC00327,C1QTNF9,ATP12A,TPTE2P1,LINC01053,LINC01076,MTMR6,NUP58,SHISA2,ATP8A2P3,USP12-AS1,USP12-AS2,LINC02340,GTF3A,MTIF3,LNX2,PLUT,CDX2,URAD,POMP,MTUS2-AS2,SLC7A1,UBL3,LINC00544,LINC00426,UBE2L5,USPL1,ALOX5AP,MEDAG,HSPH1,RXFP2,FRY-AS1,ZAR1L,N4BP2L1,STARD13-AS,CCDC169,SPART-AS1,SERTM1,SMAD9,SUPT20H,LINC00547,POSTN,HSPD1P9,UFM1,STOML3,PROSER1,NHLRC3,SLC25A15,WBP4,MTRF1,NAA16,RGCC,KARSP1,VWA8-AS1,AKAP11,LINC01050,DNAJC15,CCDC122,LACC1,LINC00390,SMIM2,SMIM2-IT1,SERP2,TUSC8,GPALPP1,TPT1,SLC25A30,LINC01055,SPERT,SIAH3,CPB2-AS1,CPB2,LINC01198,HTR2A,NUDT15,MED4,RB1-DT,LPAR6,CYSLTR2,SETDB2,PHF11,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7-AS1,RNASEH2B-AS1,GUCY1B2,SERPINE3,TMEM272,ATP7B,ALG11,NEK3,MRPS31P5,THSD1,CKAP2,MRPS31P4,CNMD,OLFM4,LINC01065,LINC02335,LINC00374,DIAPH3-AS2,EIF4A1P6,LINC01442,LINC00358,LINC01075,LINC00459,SQSTM1P1,LINC00448,PCDH9-AS4,OR7E33P,LINC00550,LINC00383,PSMC1P13,MZT1,DIS3,KLF5,LINC00392,LINC00402,LINC00381,LINC00347,LINC01078,COMMD6,UCHL3,LMO7DN,ACOD1,CLN5,FBXL3,EDNRB,LINC00446,LINC00331,RBM26,RBM26-AS1,NDFIP2-AS1,NDFIP2,LINC00382,LINC01080,PTMAP5,SLITRK6,LINC00430,LINC00397,LINC01047,LINC00440,LINC01040,RPL7L1P1,LINC00559,LINC01049,LINC00410,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,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,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2,LINC00540,SGCG,SACS,TNFRSF19,MIPEP,SPATA13,TPTE2P6,PARP4,RNF17,CENPJ,ATP8A2,CDK8,WASF3,WASF3-AS1,USP12,POLR1D,FLT3,PAN3,SLC46A3,LINC00297,KATNAL1,HMGB1,RBM22P2,TEX26-AS1,TEX26,WDR95P,B3GLCT,FRY,BRCA2,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3,DCLK1,SOHLH2,CCDC169-SOHLH2,SPART,CCNA1,ALG5,LINC02334,LINC00571,LINC00437,ANKRD26P2,LHFPL6,COG6,LINC00598,FOXO1,MRPS31,ELF1,DGKH,LINC02341,TNFSF11,ENOX1,LINC00284,SMIM2-AS1,TSC22D1,LINC00407,NUFIP1,GTF2F2,TPT1-AS1,COG3,ERICH6B,ZC3H13,LRRC63,RUBCNL,LRCH1,ESD,SUCLA2,RB1,RCBTB2,FNDC3A,CAB39L,RCBTB1,EBPL,DLEU2,DLEU7,RNASEH2B,C13orf42,FAM124A,INTS6-AS1,WDFY2,DHRS12,NEK5,TPTE2P2,SUGT1,LINC00558,LINC00458,PRR20C,LINC02338,DIAPH3-AS1,TDRD3,LINC00378,LINC00376,LINC00395,OR7E104P,PCDH9-AS1,PCDH9-AS2,PCDH9-AS3,KLHL1,ATXN8OS,LINC00348,DACH1,BORA,PIBF1,LINC00393,KLF12,TBC1D4,LMO7-AS1,LMO7,MYCBP2-AS1,MYCBP2,SLAIN1,RNF219-AS1,LINC00375,LINC00351,MIR4500HG,SLITRK5,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,RNF6,FLT1,MTUS2,N4BP2L2,N4BP2L2-IT2,LINC02343,LINC00457,NBEA,TRPC4,FREM2,TPTE2P5,SUGT1P3,EPSTI1,LCP1,ITM2B,CDADC1,INTS6,VPS36,PCDH17,DIAPH3,LINC00355,SCEL,RNF219,GPC6,HS6ST3,STK24,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,AMER2,VWA8,DLEU1,GPC5,TMTC4,MYO16,PCDH9
Controls
No Control Data Available
No Animal Model Data Available