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10p15.3-p12.31CNV Type: Duplication


Largest CNV size: 37710732 bp

Statistics Box:
Number of Reports: 1


Summary Information

Duplications with this region were identified in 7 cases from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) (Nguyen et al., 2013).

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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
 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
 37710732
 0
 7
 7

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 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
  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
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-254071
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 137788
 20813979
  20676192
 GRCh38
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-3807
 N/A
 M
 MCA
 Database: DECIPHER. Indication for study: Joint contractures (including arthrogryposis), reduction deformity of legs, no digits; small mandible/micrognathia
 
 178460
 36815321
  36636862
 GRCh38
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC23277
 N/A
 M
 DD/ID/MCA
 Database: Signature. Indication for study: Not Specified, karyotype: der(9)t(9;10) w/ ~6Mb 9p del
 
 14062
 26137590
  26123529
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24898
 N/A
 M
 DD/ID/MCA
 Database: Signature. Indication for study: 46,XY,-4,+der(4)t(4;10)(q35;p12.2) w/ ~600kb 4q del
 
 79404
 20022339
  19942936
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC25181
 N/A
 F
 MCA
 Database: Signature. Indication for study: Dysmorphic Features, Multiple Congenital Anomalies, karyotype: der(12)t(10;12) w/ ~1.5Mb 12q del
 
 14062
 21830804
  21816743
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC58432
 N/A
 F
 DD/ID/MCA
 Database: Signature. Indication for study: Increased nuchal translucency, 46,XX,add(12)(p12.2), karyotype: der(12)t(10;12) w/ ~3Mb 12p del
 
 92740
 37560484
  37467745
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC66054
 N/A
 F
 MCA
 Database: Signature. Indication for study: Multiple Congenital Anomalies, Congenital Reduction Deformities of Brain, Abnormal Karyotype
 
 92740
 30937051
  30844312
 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
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-254071
 
 
 Unknown
 Unknown
 Unknown
 RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,NEBL,RSU1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-3807
 
 
 De novo
 Unknown
 Possibly segregated
 RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,EIF4BP2,NPM1P30,NEBL-AS1,LUZP4P1,RNU6-15P,RNMTL1P1,MIR1915,SKIDA1,RNU6-306P,HNRNPRP1,RNU6-1141P,RN7SKP219,RN7SKP37,ADIPOR1P1,EBLN1,PSME2P6,RPL31P45,COMMD3,COMMD3-BMI1,RNU6-413P,RNA5SP304,YWHAZP3,PTF1A,OTUD1,NUP35P1,MIR603,RNA5SP305,RN7SKP241,RN7SKP220,GPN3P1,HIRAP1,RNA5SP306,RNU6-632P,RNA5SP307,FAM238B,HSPA8P3,RNU6-946P,RNU6-490P,RNU2-24P,RNU7-12P,RNU6-666P,RNU6-452P,FAM210CP,TRIAP1P1,RN7SKP132,RPL36AP55,MRPS21P5,MIR8086,ZNF101P1,RPSAP10,RNU4ATAC6P,TPRKBP1,RNU6-1067P,BAMBI,RNU6-270P,LINC00837,RNA5SP308,RPL21P93,PTCHD3P1,MIR604,MIR938,CKS1BP2,RNU6-908P,RNU6-598P,EEF1A1P39,DNM1P17,GOLGA2P6,RN7SL241P,MIR7162,NIFKP1,CCND3P1,HNRNPA1P32,RN7SL63P,DDX10P1,RNA5SP309,SPTLC1P1,HMGB1P7,RPL34P19,RN7SL825P,RPS4XP11,RNU7-22P,PPIAP31,RPS24P13,RNU6-1244P,C1DP1,AK3P5,MTND4LP11,RN7SL847P,RPL7AP53,RN7SL398P,RPL23P11,ELOBP4,RPL37P18,RPS12P16,SS18L2P1,RNU6-847P,RNU6-193P,PRDX2P2,MIR3611,RNU7-77P,ATP6V1G1P4,RNU6-794P,RNU6-1167P,GJD4,FZD8,MIR4683,RPL7P37,MTND5P17,MTND4P18,NAMPTP1,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,C10orf113,BMI1,MSRB2,THNSL1,LINC01516,GAD2,FAM238A,SELENOOLP,ABI1,FAM238C,MASTL,ACBD5,LRRC37A6P,PTCHD3,MKX,MKX-AS1,WAC-AS1,LYZL1,SVIL-AS1,MTPAP,MAP3K8,LYZL2,ZEB1-AS1,KIF5B,ITGB1,LINC00838,PARD3-AS1,CUL2,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,CASC10,MLLT10,DNAJC1,SPAG6,PIP4K2A,ARMC3,C10orf67,ARHGAP21,PRTFDC1,ENKUR,GPR158,LINC00836,MYO3A,APBB1IP,PDSS1,ANKRD26,YME1L1,RAB18,ARMC4,RN7SKP39,WAC,LINC01517,SVIL,JCAD,SVIL2P,ZNF438,ARHGAP12,EPC1,ITGB1-DT,NRP1,CREM,CCNY,PCAT5,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,NEBL,KIAA1217,ARMC4P1,MPP7,ZEB1,CCDC7,PARD3,RSU1,GPR158-AS1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC23277
 FISH
 
 Unknown
 Unknown
 Unknown
 RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,EIF4BP2,NPM1P30,NEBL-AS1,LUZP4P1,RNU6-15P,RNMTL1P1,MIR1915,SKIDA1,RNU6-306P,HNRNPRP1,RNU6-1141P,RN7SKP219,RN7SKP37,ADIPOR1P1,EBLN1,PSME2P6,RPL31P45,COMMD3,COMMD3-BMI1,RNU6-413P,RNA5SP304,YWHAZP3,PTF1A,OTUD1,NUP35P1,MIR603,RNA5SP305,RN7SKP241,RN7SKP220,GPN3P1,HIRAP1,RNA5SP306,RNU6-632P,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,C10orf113,BMI1,MSRB2,THNSL1,LINC01516,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,CASC10,MLLT10,DNAJC1,SPAG6,PIP4K2A,ARMC3,C10orf67,ARHGAP21,PRTFDC1,ENKUR,GPR158,LINC00836,MYO3A,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,NEBL,KIAA1217,RSU1,GPR158-AS1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24898
 FISH
 
 Unknown
 Unknown
 Unknown
 RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,RSU1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC25181
 FISH
 
 Unknown
 Unknown
 Unknown
 RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,EIF4BP2,NPM1P30,NEBL-AS1,LUZP4P1,RNU6-15P,RNMTL1P1,MIR1915,SKIDA1,RNU6-306P,HNRNPRP1,RNU6-1141P,RN7SKP219,TUBB8,IL9RP2,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,C10orf113,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,CASC10,MLLT10,DNAJC1,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,NEBL,RSU1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC58432
 FISH
 
 Unknown
 Unknown
 Unknown
 RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,EIF4BP2,NPM1P30,NEBL-AS1,LUZP4P1,RNU6-15P,RNMTL1P1,MIR1915,SKIDA1,RNU6-306P,HNRNPRP1,RNU6-1141P,RN7SKP219,RN7SKP37,ADIPOR1P1,EBLN1,PSME2P6,RPL31P45,COMMD3,COMMD3-BMI1,RNU6-413P,RNA5SP304,YWHAZP3,PTF1A,OTUD1,NUP35P1,MIR603,RNA5SP305,RN7SKP241,RN7SKP220,GPN3P1,HIRAP1,RNA5SP306,RNU6-632P,RNA5SP307,FAM238B,HSPA8P3,RNU6-946P,RNU6-490P,RNU2-24P,RNU7-12P,RNU6-666P,RNU6-452P,FAM210CP,TRIAP1P1,RN7SKP132,RPL36AP55,MRPS21P5,MIR8086,ZNF101P1,RPSAP10,RNU4ATAC6P,TPRKBP1,RNU6-1067P,BAMBI,RNU6-270P,LINC00837,RNA5SP308,RPL21P93,PTCHD3P1,MIR604,MIR938,CKS1BP2,RNU6-908P,RNU6-598P,EEF1A1P39,DNM1P17,GOLGA2P6,RN7SL241P,MIR7162,NIFKP1,CCND3P1,HNRNPA1P32,RN7SL63P,DDX10P1,RNA5SP309,SPTLC1P1,HMGB1P7,RPL34P19,RN7SL825P,RPS4XP11,RNU7-22P,PPIAP31,RPS24P13,RNU6-1244P,C1DP1,AK3P5,MTND4LP11,RN7SL847P,RPL7AP53,RN7SL398P,RPL23P11,ELOBP4,RPL37P18,RPS12P16,SS18L2P1,RNU6-847P,RNU6-193P,PRDX2P2,MIR3611,RNU7-77P,ATP6V1G1P4,RNU6-794P,RNU6-1167P,GJD4,FZD8,MIR4683,RPL7P37,MTND5P17,MTND4P18,NAMPTP1,MKNK2P1,RNU6-811P,RN7SL314P,TMEM161BP1,VN1R53P,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,C10orf113,BMI1,MSRB2,THNSL1,LINC01516,GAD2,FAM238A,SELENOOLP,ABI1,FAM238C,MASTL,ACBD5,LRRC37A6P,PTCHD3,MKX,MKX-AS1,WAC-AS1,LYZL1,SVIL-AS1,MTPAP,MAP3K8,LYZL2,ZEB1-AS1,KIF5B,ITGB1,LINC00838,PARD3-AS1,CUL2,ARL6IP1P2,LINC00993,TACC1P1,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,CASC10,MLLT10,DNAJC1,SPAG6,PIP4K2A,ARMC3,C10orf67,ARHGAP21,PRTFDC1,ENKUR,GPR158,LINC00836,MYO3A,APBB1IP,PDSS1,ANKRD26,YME1L1,RAB18,ARMC4,RN7SKP39,WAC,LINC01517,SVIL,JCAD,SVIL2P,ZNF438,ARHGAP12,EPC1,ITGB1-DT,NRP1,CREM,CCNY,PCAT5,ANKRD30A,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,NEBL,KIAA1217,ARMC4P1,MPP7,ZEB1,CCDC7,PARD3,RSU1,GPR158-AS1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC66054
 FISH
 
 Unknown
 Unknown
 Unknown
 RNA5SP297,RNA5SP298,RN7SL754P,MIR5699,IDI2,LINC00700,MIR6072,RNU6-889P,RNU6-576P,MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,RNA5SP300,SNRPGP5,BTBD7P1,RPL36AP36,RNU6-6P,C8orf59P1,RPL6P24,RNA5SP301,NUTF2P5,MIR4293,MIR1265,RNA5SP302,RPSAP7,OR7E110P,OR7E26P,OR7E115P,DCLRE1CP1,ACBD7,GAPDHP45,C10orf111,FTLP19,RNU6-1075P,RNU2-18P,PRPF38AP2,STAM-AS1,MIR511,AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,EIF4BP2,NPM1P30,NEBL-AS1,LUZP4P1,RNU6-15P,RNMTL1P1,MIR1915,SKIDA1,RNU6-306P,HNRNPRP1,RNU6-1141P,RN7SKP219,RN7SKP37,ADIPOR1P1,EBLN1,PSME2P6,RPL31P45,COMMD3,COMMD3-BMI1,RNU6-413P,RNA5SP304,YWHAZP3,PTF1A,OTUD1,NUP35P1,MIR603,RNA5SP305,RN7SKP241,RN7SKP220,GPN3P1,HIRAP1,RNA5SP306,RNU6-632P,RNA5SP307,FAM238B,HSPA8P3,RNU6-946P,RNU6-490P,RNU2-24P,RNU7-12P,RNU6-666P,RNU6-452P,FAM210CP,TRIAP1P1,RN7SKP132,RPL36AP55,MRPS21P5,MIR8086,ZNF101P1,RPSAP10,RNU4ATAC6P,TPRKBP1,RNU6-1067P,BAMBI,RNU6-270P,LINC00837,RNA5SP308,RPL21P93,PTCHD3P1,MIR604,MIR938,CKS1BP2,RNU6-908P,RNU6-598P,EEF1A1P39,DNM1P17,GOLGA2P6,RN7SL241P,MIR7162,NIFKP1,CCND3P1,HNRNPA1P32,RN7SL63P,DDX10P1,ZMYND11,GTPBP4,IDI2-AS1,WDR37,LINC00200,ADARB2-AS1,LINC00701,PFKP,KLF6,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,RPL5P25,MCM10,UCMA,PHYH,SEPHS1,PRPF18,CDNF,HSPA14,SUV39H2,MEIG1,RPP38,NMT2,PPIAP30,PTER,VIM-AS1,VIM,ST8SIA6-AS1,HACD1,TMEM236,SLC39A12-AS1,ARL5B,C10orf113,BMI1,MSRB2,THNSL1,LINC01516,GAD2,FAM238A,SELENOOLP,ABI1,FAM238C,MASTL,ACBD5,LRRC37A6P,PTCHD3,MKX,MKX-AS1,WAC-AS1,LYZL1,SVIL-AS1,MTPAP,MAP3K8,LYZL2,DIP2C,PRR26,LARP4B,ADARB2,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,CCDC3,OPTN,BEND7,FRMD4A,DCLRE1C,OLAH,FAM171A1,ITGA8,MINDY3,C1QL3,CUBN,TRDMT1,ST8SIA6,STAM,SLC39A12,CACNB2,NSUN6,MALRD1,CASC10,MLLT10,DNAJC1,SPAG6,PIP4K2A,ARMC3,C10orf67,ARHGAP21,PRTFDC1,ENKUR,GPR158,LINC00836,MYO3A,APBB1IP,PDSS1,ANKRD26,YME1L1,RAB18,ARMC4,RN7SKP39,WAC,LINC01517,SVIL,JCAD,SVIL2P,ZNF438,IDI1,PITRM1,PITRM1-AS1,SFMBT2,USP6NL,CAMK1D,FAM107B,MRC1,PLXDC2,NEBL,KIAA1217,ARMC4P1,MPP7,RSU1,GPR158-AS1
 

Controls

No Control Data Available
No Animal Model Data Available
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