AutismKB 2.0

Annotation Detail for CSMD3


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Basic Information Top
Gene Symbol:CSMD3 ( KIAA1894 )
Gene Full Name: CUB and Sushi multiple domains 3
Band: 8q23.3
Quick LinksEntrez ID:114788; OMIM: 608399; Uniprot ID:CSMD3_HUMAN; ENSEMBL ID: ENSG00000164796; HGNC ID: 19291
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
73N-linked (GlcNAc...) (Potential).
90N-linked (GlcNAc...) (Potential).
361N-linked (GlcNAc...) (Potential).
409N-linked (GlcNAc...) (Potential).
724N-linked (GlcNAc...) (Potential).
823N-linked (GlcNAc...) (Potential).
966N-linked (GlcNAc...) (Potential).
1092N-linked (GlcNAc...) (Potential).
1126N-linked (GlcNAc...) (Potential).
1171N-linked (GlcNAc...) (Potential).
1280N-linked (GlcNAc...) (Potential).
1536N-linked (GlcNAc...) (Potential).
1591N-linked (GlcNAc...) (Potential).
1709N-linked (GlcNAc...) (Potential).
1781N-linked (GlcNAc...) (Potential).
1929N-linked (GlcNAc...) (Potential).
2019N-linked (GlcNAc...) (Potential).
2155N-linked (GlcNAc...) (Potential).
2286N-linked (GlcNAc...) (Potential).
2291N-linked (GlcNAc...) (Potential).
2324N-linked (GlcNAc...) (Potential).
2495N-linked (GlcNAc...) (Potential).
2537N-linked (GlcNAc...) (Potential).
2711N-linked (GlcNAc...) (Potential).
2742N-linked (GlcNAc...) (Potential).
2862N-linked (GlcNAc...) (Potential).
2932N-linked (GlcNAc...) (Potential).
2952N-linked (GlcNAc...) (Potential).
3099N-linked (GlcNAc...) (Potential).
3158N-linked (GlcNAc...) (Potential).
3167N-linked (GlcNAc...) (Potential).
3194N-linked (GlcNAc...) (Potential).
3208N-linked (GlcNAc...) (Potential).
3218N-linked (GlcNAc...) (Potential).
3276N-linked (GlcNAc...) (Potential).
3364N-linked (GlcNAc...) (Potential).
3522N-linked (GlcNAc...) (Potential).
3529N-linked (GlcNAc...) (Potential).
3612N-linked (GlcNAc...) (Potential).
3618N-linked (GlcNAc...) (Potential).
3627N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
36N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
53N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
324N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
372N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
687N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
786N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
929N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1055N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1089N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1243N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1499N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1554N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1672N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1744N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1892N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1982N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2118N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2249N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2254N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2287N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2458N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2500N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2674N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2705N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2825N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2895N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2915N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3062N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3121N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3130N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3157N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3171N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3181N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3239N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3327N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3485N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3492N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3575N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3581N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3590N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
36N-linkedHMM predict
41Phosphoserine(CDC2)HMM predict
53N-linkedHMM predict
79Phosphotyrosine(Syk)HMM predict
81SulfotyrosineHMM predict
99Phosphothreonine(PKA)HMM predict
109O-linkedHMM predict
139Phosphoserine(IKK)HMM predict
217Phosphoserine(CDC2)HMM predict
217Phosphoserine(CDK)HMM predict
257Phosphotyrosine(EGFR)HMM predict
257SulfotyrosineHMM predict
309O-linkedHMM predict
310O-linkedHMM predict
312O-linkedHMM predict
314O-linkedHMM predict
324N-linkedHMM predict
341O-linkedHMM predict
343O-linkedHMM predict
344O-linkedHMM predict
372N-linkedHMM predict
388Phosphothreonine(PKC)HMM predict
519O-linkedHMM predict
524Phosphoserine(CDC2)HMM predict
684S-palmitoylHMM predict
687N-linkedHMM predict
704Phosphotyrosine(INSR)HMM predict
733Phosphoserine(ATM)HMM predict
745Phosphoserine(ATM)HMM predict
745Phosphoserine(IKK)HMM predict
786N-linkedHMM predict
790N-linkedHMM predict
871Phosphoserine(ATM)HMM predict
909Phosphotyrosine(INSR)HMM predict
922Phosphoserine(MAPK)HMM predict
929N-linkedHMM predict
1055N-linkedHMM predict
1083Phosphotyrosine(Syk)HMM predict
1089N-linkedHMM predict
1134N-linkedHMM predict
1224Phosphotyrosine(INSR)HMM predict
1377S-palmitoylHMM predict
1398Phosphotyrosine(Jak)HMM predict
1484O-linkedHMM predict
1499N-linkedHMM predict
1503N-linkedHMM predict
1554N-linkedHMM predict
1632Phosphoserine(CK1)HMM predict
1672N-linkedHMM predict
1732O-linkedHMM predict
1789Phosphoserine(IKK)HMM predict
1792Phosphoserine(CK1)HMM predict
1793Phosphoserine(CK1)HMM predict
1795Phosphoserine(CK1)HMM predict
1795Phosphoserine(ATM)HMM predict
1799Phosphoserine(IKK)HMM predict
1837O-linkedHMM predict
1839O-linkedHMM predict
1843Phosphoserine(IKK)HMM predict
1892N-linkedHMM predict
1907Phosphothreonine(PKC)HMM predict
1973O-linkedHMM predict
1982N-linkedHMM predict
1986N-linkedHMM predict
1987N-linkedHMM predict
2020O-linkedHMM predict
2020Phosphothreonine(CDC2)HMM predict
2020Phosphothreonine(MAPK)HMM predict
2020Phosphothreonine(CDK)HMM predict
2087Phosphoserine(CDC2)HMM predict
2118N-linkedHMM predict
2134Phosphoserine(CK1)HMM predict
2134Phosphoserine(CK2)HMM predict
2135O-linkedHMM predict
2135O-linkedHMM predict
2135Phosphoserine(IKK)HMM predict
2138Phosphoserine(CK1)HMM predict
2151O-linkedHMM predict
2155Phosphoserine(CK1)HMM predict
2169Phosphoserine(CK1)HMM predict
2169Phosphoserine(ATM)HMM predict
2249N-linkedHMM predict
2254N-linkedHMM predict
2258Phosphotyrosine(INSR)HMM predict
2258SulfotyrosineHMM predict
2262Phosphotyrosine(INSR)HMM predict
2262SulfotyrosineHMM predict
2266SulfotyrosineHMM predict
2285Phosphotyrosine(EGFR)HMM predict
2285Phosphotyrosine(INSR)HMM predict
2287N-linkedHMM predict
2297Phosphotyrosine(SRC)HMM predict
2324O-linkedHMM predict
2327Phosphoserine(CK1)HMM predict
2371Phosphothreonine(CK2)HMM predict
2458N-linkedHMM predict
2500N-linkedHMM predict
2504N-linkedHMM predict
2537Phosphoserine(ATM)HMM predict
2537PhosphoserineHMM predict
2545Phosphoserine(ATM)HMM predict
2647N-linkedHMM predict
2674N-linkedHMM predict
2705N-linkedHMM predict
2727Phosphothreonine(MAPK)HMM predict
2739O-linkedHMM predict
2769Phosphoserine(IKK)HMM predict
2825N-linkedHMM predict
2832O-linkedHMM predict
2846Phosphotyrosine(EGFR)HMM predict
2895N-linkedHMM predict
2909Phosphoserine(CK1)HMM predict
2915N-linkedHMM predict
2989Phosphoserine(PKG)HMM predict
3012Phosphoserine(ATM)HMM predict
3024Phosphothreonine(CDC2)HMM predict
3024Phosphothreonine(MAPK)HMM predict
3062N-linkedHMM predict
3102Phosphotyrosine(INSR)HMM predict
3121N-linkedHMM predict
3130N-linkedHMM predict
3152Phosphotyrosine(INSR)HMM predict
3171N-linkedHMM predict
3181N-linkedHMM predict
3198Phosphothreonine(MAPK)HMM predict
3223Phosphoserine(MAPK)HMM predict
3223Phosphoserine(ATM)HMM predict
3239N-linkedHMM predict
3272Phosphotyrosine(EGFR)HMM predict
3314Phosphoserine(IKK)HMM predict
3325Phosphoserine(IKK)HMM predict
3327N-linkedHMM predict
3328N-linkedHMM predict
3379Phosphothreonine(MAPK)HMM predict
3395Phosphotyrosine(INSR)HMM predict
3396Phosphothreonine(INSR)HMM predict
3446Phosphothreonine(MAPK)HMM predict
3446Phosphothreonine(CDK)HMM predict
3448O-linkedHMM predict
3448Phosphoserine(CDK)HMM predict
3452Phosphoserine(ATM)HMM predict
3483O-linkedHMM predict
3492N-linkedHMM predict
3497N-linkedHMM predict
3580Phosphoserine(IKK)HMM predict
3581N-linkedHMM predict
3584N-linkedHMM predict
3589O-linkedHMM predict
3590N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052900
  • Location:chr8 113304332-114518417
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 114519233 114519367 134 883
CTCF CD4SISSRdata 114519233 114519367 134 883
CTCF HelaGSE12889 114519195 114519418 223 889
CTCF JurkatGSE12889 114519088 114519500 412 877
FOXA1 MCF7GSE15244 114519242 114520029 787 1218
FoxA1 MCF7MACSdata 114519508 114519729 221 1201
Oct1 H2O2-HelaGSE14283 114531448 114531497 49 13055
Oct1 H2O2-HelaGSE14283 114533440 114533468 28 15037
Oct1 HelaGSE14283 114531454 114531498 44 13059
Oct1 HelaGSE14283 114533440 114533468 28 15037
RARG MCF7GSE15244 114519270 114519993 723 1214
TFAP2C MCF7GSE21234 114519152 114519997 845 1157
hScc1 BcellGSE12603 114519038 114520209 1171 1206
hScc1 CdLSGSE12603 114518907 114519736 829 904
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 114469321 114469354 33 0
H3K27me3 colorectalcancer 114515850 114518799 2949 0
PAX3-FKHR Rh4GSE19063 114484628 114485872 1244 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
25847 EST chr8 114146809 114147547 738 mRNA CSMD3 chr8 113304336 114458558 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018