Xp22.33-p11.21CNV Type: Deletion
Largest CNV size: 56065674 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
55300000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
55593377
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
58000000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
56065674
1
0
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_296435
N/A
F
Developmental delay/intellectual disability
CNV locus reported as Xp22.33-p11.1 in original report
2782275
57905840
55123566
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004962
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
55550898
55540220
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown234
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
11091
58025331
58014241
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case24415
NA
NA
ASD
NA
NA
262578
56328252
56065674
Unknown
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_296435
qPCR
Unknown
GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,NPM1P9,TPT1P14,INE2,RNU5F-7P,SETP15,RPL6P30,RN7SL658P,MIR548AM,S100G,RNU7-56P,RPL12P49,RNU4-6P,CBX1P2,CBX1P4,MIR4768,NHS-AS1,TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,MIR23C,EIF1AX-AS1,RN7SKP183,RNU6-133P,RARRES2P3,KLHL34,CBLL2,METTL15P3,RNU6-266P,FAM3C2,PDCL2P1,SAT1,RPL9P7,ZFX-AS1,SUPT20HL2,SNRPEP9,SCARNA23,ARX,RN7SL91P,RPP40P1,MAGEB18,MAGEB6B,MAGEB6,MAGEB5,RPL7P58,HMGA1P1,RNU1-142P,PTP4A1P5,PPP4R3C,DCAF8L1,MIR6134,RNA5SP500,MIR4666B,PIGFP3,MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,RNA5SP501,NPM1P8,MIR3915,MIR548F5,DMD-AS3,TBCAP1,FAM47A,FTH1P14,FAM47B,RNU6-1087P,SIAH1P1,RNU6-641P,HMGB1P16,RPS15AP40,FTH1P18,MOB1AP2,FTH1P19,FTH1P27,FAM47DP,RNU6-49P,HYPM,MIR548AJ2,TDGF1P1,FTLP16,UBTFL11,RNU7-7P,MID1IP1,MID1IP1-AS1,RNU6-591P,MIR3937,RN7SL732P,GAPDHP1,MIR1587,RPS11P7,RNU7-164P,MPC1L,MED14OS,DPRXP6,MKRN4P,SDCBPP3,RPS2P55,CLIC4P3,LINC02601,RNA5SP502,RN7SL15P,CASK-AS1,RNU6-1321P,RN7SL144P,GPR34,RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,PPP1R2C,IMPDH1P4,NANOGP10,RRM2P3,FDPSP5,CHTF8P1,RPL19P20,RPSAP61,RN7SL291P,DUSP21,KRT8P14,MIR221,MIR222,LINC02595,MED28P4,KRT18P68,PCNAP3,ACTBP1,LINC01186,GAPDHP65,RNU6-50P,MKI67P1,PGAM1P7,YBX1P8,RNU6-1189P,RNU12-2P,NDUFB11,INE1,RN7SL785P,SNORA11C,NPM1P49,LINC01560,NUS1P1,TIMP1,MIR4769,UXT,UXT-AS1,WASF4P,ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,RPL7AP71,RNU6-434P,PGAM4P1,MAGED2,SNORA11,TRO,PAGE2B,PAGE2,MTCO1P52,MTND2P24,MTND1P30,MTRNR2L10,PAGE5,MIR4536-1,MIR4536-2,MAGEH1,USP51,RPL23AP83,UBQLN2,UQCRBP1,SPIN2B,SPIN2A,ZXDB,NLRP2B,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,FANCB,MOSPD2,ASB9,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,GRPR,MAGEB17,SYAP1,TXLNG,RBBP7,SCML1,RS1,PHKA2-AS1,PHKA2,PDHA1,EIF5P2,EIF1AX,MBTPS2,YY2,SMS,PHEX-AS1,DDX53,PTCHD1,PRDX4,CXorf58,EIF2S3,ZFX,SUPT20HL1,PCYT1B-AS1,EEF1B2P3,VENTXP1,MAGEB10,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,TMEM47,MAGEB16,FAM47C,XK,CYBB,DYNLT3,SRPX,LINC01282,ATP6AP2,MED14,DDX3X,NYX,GPR82,PINCR,MAOA,NDP,NDP-AS1,TATDN2P1,FUNDC1,MIR222HG,KRBOX4,ZNF674-AS1,CHST7,RP2,LINC01545,RGN,UBA1,CDK16,USP11,ZNF157,ARAF,CFP,ELK1,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,TSR2,FGD1,GNL3L,PFKFB1,APEX2,ALAS2,FAM104B,PAGE3,FOXR2,RRAGB,KLF8,PPP1R11P2,MTHFD1P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,TMSB4X,LINC01203,OFD1,GPM6B,GEMIN8,PIGA,PIR,BMX,ACE2,CTPS2,REPS2,NHS,LINC01456,BEND2,SCML2,CDKL5,PPEF1,ADGRG2,MAP3K15,SH3KBP1,MAP7D2,RPS6KA3,CNKSR2,SMPX,PHEX,ACOT9,APOO,KLHL15,PDK3,PCYT1B,POLA1,DCAF8L2,GK,TAB3,CFAP47,PRRG1,LANCL3,SYTL5,RPGR,OTC,TSPAN7,LINC01281,BCOR,CXorf38,USP9X,CASK,MAOB,EFHC2,LINC01204,ZNF674,SLC9A7,JADE3,ZNF41,SYN1,CXXC1P1,ZNF81,RPL7P57,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1,PHF8,FAM120C,WNK3,ITIH6,NBDY,SPIN3,FAAH2,STS,MID1,ARHGAP6,FRMPD4,EGFL6,GLRA2,CA5B,RAI2,BCLAF3,PTCHD1-AS,IL1RAPL1,DMD,KDM6A,RBM10,PPP1R3F,CCNB3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004962
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,NPM1P9,TPT1P14,INE2,RNU5F-7P,SETP15,RPL6P30,RN7SL658P,MIR548AM,S100G,RNU7-56P,RPL12P49,RNU4-6P,CBX1P2,CBX1P4,MIR4768,NHS-AS1,TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,MIR23C,EIF1AX-AS1,RN7SKP183,RNU6-133P,RARRES2P3,KLHL34,CBLL2,METTL15P3,RNU6-266P,FAM3C2,PDCL2P1,SAT1,RPL9P7,ZFX-AS1,SUPT20HL2,SNRPEP9,SCARNA23,ARX,RN7SL91P,RPP40P1,MAGEB18,MAGEB6B,MAGEB6,MAGEB5,RPL7P58,HMGA1P1,RNU1-142P,PTP4A1P5,PPP4R3C,DCAF8L1,MIR6134,RNA5SP500,MIR4666B,PIGFP3,MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,RNA5SP501,NPM1P8,MIR3915,MIR548F5,DMD-AS3,TBCAP1,FAM47A,FTH1P14,FAM47B,RNU6-1087P,SIAH1P1,RNU6-641P,HMGB1P16,RPS15AP40,FTH1P18,MOB1AP2,FTH1P19,FTH1P27,FAM47DP,RNU6-49P,HYPM,MIR548AJ2,TDGF1P1,FTLP16,UBTFL11,RNU7-7P,MID1IP1,MID1IP1-AS1,RNU6-591P,MIR3937,RN7SL732P,GAPDHP1,MIR1587,RPS11P7,RNU7-164P,MPC1L,MED14OS,DPRXP6,MKRN4P,SDCBPP3,RPS2P55,CLIC4P3,LINC02601,RNA5SP502,RN7SL15P,CASK-AS1,RNU6-1321P,RN7SL144P,GPR34,RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,PPP1R2C,IMPDH1P4,NANOGP10,RRM2P3,FDPSP5,CHTF8P1,RPL19P20,RPSAP61,RN7SL291P,DUSP21,KRT8P14,MIR221,MIR222,LINC02595,MED28P4,KRT18P68,PCNAP3,ACTBP1,LINC01186,GAPDHP65,RNU6-50P,MKI67P1,PGAM1P7,YBX1P8,RNU6-1189P,RNU12-2P,NDUFB11,INE1,RN7SL785P,SNORA11C,NPM1P49,LINC01560,NUS1P1,TIMP1,MIR4769,UXT,UXT-AS1,WASF4P,ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,RPL7AP71,RNU6-434P,PGAM4P1,MAGED2,SNORA11,TRO,PAGE2B,PAGE2,MTCO1P52,MTND2P24,MTND1P30,MTRNR2L10,PAGE5,MIR4536-1,MIR4536-2,MAGEH1,USP51,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,FANCB,MOSPD2,ASB9,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,GRPR,MAGEB17,SYAP1,TXLNG,RBBP7,SCML1,RS1,PHKA2-AS1,PHKA2,PDHA1,EIF5P2,EIF1AX,MBTPS2,YY2,SMS,PHEX-AS1,DDX53,PTCHD1,PRDX4,CXorf58,EIF2S3,ZFX,SUPT20HL1,PCYT1B-AS1,EEF1B2P3,VENTXP1,MAGEB10,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,TMEM47,MAGEB16,FAM47C,XK,CYBB,DYNLT3,SRPX,LINC01282,ATP6AP2,MED14,DDX3X,NYX,GPR82,PINCR,MAOA,NDP,NDP-AS1,TATDN2P1,FUNDC1,MIR222HG,KRBOX4,ZNF674-AS1,CHST7,RP2,LINC01545,RGN,UBA1,CDK16,USP11,ZNF157,ARAF,CFP,ELK1,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,TSR2,FGD1,GNL3L,PFKFB1,APEX2,ALAS2,FAM104B,PAGE3,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,TMSB4X,LINC01203,OFD1,GPM6B,GEMIN8,PIGA,PIR,BMX,ACE2,CTPS2,REPS2,NHS,LINC01456,BEND2,SCML2,CDKL5,PPEF1,ADGRG2,MAP3K15,SH3KBP1,MAP7D2,RPS6KA3,CNKSR2,SMPX,PHEX,ACOT9,APOO,KLHL15,PDK3,PCYT1B,POLA1,DCAF8L2,GK,TAB3,CFAP47,PRRG1,LANCL3,SYTL5,RPGR,OTC,TSPAN7,LINC01281,BCOR,CXorf38,USP9X,CASK,MAOB,EFHC2,LINC01204,ZNF674,SLC9A7,JADE3,ZNF41,SYN1,CXXC1P1,ZNF81,RPL7P57,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1,PHF8,FAM120C,WNK3,ITIH6,STS,MID1,ARHGAP6,FRMPD4,EGFL6,GLRA2,CA5B,RAI2,BCLAF3,PTCHD1-AS,IL1RAPL1,DMD,KDM6A,RBM10,PPP1R3F,CCNB3
maini_18_ASD/DD/ID_discovery_cases-case_unknown234
De novo
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,NPM1P9,TPT1P14,INE2,RNU5F-7P,SETP15,RPL6P30,RN7SL658P,MIR548AM,S100G,RNU7-56P,RPL12P49,RNU4-6P,CBX1P2,CBX1P4,MIR4768,NHS-AS1,TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,MIR23C,EIF1AX-AS1,RN7SKP183,RNU6-133P,RARRES2P3,KLHL34,CBLL2,METTL15P3,RNU6-266P,FAM3C2,PDCL2P1,SAT1,RPL9P7,ZFX-AS1,SUPT20HL2,SNRPEP9,SCARNA23,ARX,RN7SL91P,RPP40P1,MAGEB18,MAGEB6B,MAGEB6,MAGEB5,RPL7P58,HMGA1P1,RNU1-142P,PTP4A1P5,PPP4R3C,DCAF8L1,MIR6134,RNA5SP500,MIR4666B,PIGFP3,MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,RNA5SP501,NPM1P8,MIR3915,MIR548F5,DMD-AS3,TBCAP1,FAM47A,FTH1P14,FAM47B,RNU6-1087P,SIAH1P1,RNU6-641P,HMGB1P16,RPS15AP40,FTH1P18,MOB1AP2,FTH1P19,FTH1P27,FAM47DP,RNU6-49P,HYPM,MIR548AJ2,TDGF1P1,FTLP16,UBTFL11,RNU7-7P,MID1IP1,MID1IP1-AS1,RNU6-591P,MIR3937,RN7SL732P,GAPDHP1,MIR1587,RPS11P7,RNU7-164P,MPC1L,MED14OS,DPRXP6,MKRN4P,SDCBPP3,RPS2P55,CLIC4P3,LINC02601,RNA5SP502,RN7SL15P,CASK-AS1,RNU6-1321P,RN7SL144P,GPR34,RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,PPP1R2C,IMPDH1P4,NANOGP10,RRM2P3,FDPSP5,CHTF8P1,RPL19P20,RPSAP61,RN7SL291P,DUSP21,KRT8P14,MIR221,MIR222,LINC02595,MED28P4,KRT18P68,PCNAP3,ACTBP1,LINC01186,GAPDHP65,RNU6-50P,MKI67P1,PGAM1P7,YBX1P8,RNU6-1189P,RNU12-2P,NDUFB11,INE1,RN7SL785P,SNORA11C,NPM1P49,LINC01560,NUS1P1,TIMP1,MIR4769,UXT,UXT-AS1,WASF4P,ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,RPL7AP71,RNU6-434P,PGAM4P1,MAGED2,SNORA11,TRO,PAGE2B,PAGE2,MTCO1P52,MTND2P24,MTND1P30,MTRNR2L10,PAGE5,MIR4536-1,MIR4536-2,MAGEH1,USP51,RPL23AP83,UBQLN2,UQCRBP1,SPIN2B,SPIN2A,ZXDB,NLRP2B,ZXDA,MYCLP2,KRT8P17,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,FANCB,MOSPD2,ASB9,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,GRPR,MAGEB17,SYAP1,TXLNG,RBBP7,SCML1,RS1,PHKA2-AS1,PHKA2,PDHA1,EIF5P2,EIF1AX,MBTPS2,YY2,SMS,PHEX-AS1,DDX53,PTCHD1,PRDX4,CXorf58,EIF2S3,ZFX,SUPT20HL1,PCYT1B-AS1,EEF1B2P3,VENTXP1,MAGEB10,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,TMEM47,MAGEB16,FAM47C,XK,CYBB,DYNLT3,SRPX,LINC01282,ATP6AP2,MED14,DDX3X,NYX,GPR82,PINCR,MAOA,NDP,NDP-AS1,TATDN2P1,FUNDC1,MIR222HG,KRBOX4,ZNF674-AS1,CHST7,RP2,LINC01545,RGN,UBA1,CDK16,USP11,ZNF157,ARAF,CFP,ELK1,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,TSR2,FGD1,GNL3L,PFKFB1,APEX2,ALAS2,FAM104B,PAGE3,FOXR2,RRAGB,KLF8,PPP1R11P2,MTHFD1P1,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,TMSB4X,LINC01203,OFD1,GPM6B,GEMIN8,PIGA,PIR,BMX,ACE2,CTPS2,REPS2,NHS,LINC01456,BEND2,SCML2,CDKL5,PPEF1,ADGRG2,MAP3K15,SH3KBP1,MAP7D2,RPS6KA3,CNKSR2,SMPX,PHEX,ACOT9,APOO,KLHL15,PDK3,PCYT1B,POLA1,DCAF8L2,GK,TAB3,CFAP47,PRRG1,LANCL3,SYTL5,RPGR,OTC,TSPAN7,LINC01281,BCOR,CXorf38,USP9X,CASK,MAOB,EFHC2,LINC01204,ZNF674,SLC9A7,JADE3,ZNF41,SYN1,CXXC1P1,ZNF81,RPL7P57,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1,PHF8,FAM120C,WNK3,ITIH6,NBDY,SPIN3,FAAH2,STS,MID1,ARHGAP6,FRMPD4,EGFL6,GLRA2,CA5B,RAI2,BCLAF3,PTCHD1-AS,IL1RAPL1,DMD,KDM6A,RBM10,PPP1R3F,CCNB3
rosenfeld_10_ASD_discovery_cases-case24415
FISH
Unknown
Unknown
Unknown
0 genes
Controls
No Control Data Available
No Animal Model Data Available