AutismKB 2.0

Annotation Detail for CSMD1


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Basic Information Top
Gene Symbol:CSMD1 ( KIAA1890 )
Gene Full Name: CUB and Sushi multiple domains 1
Band: 8p23.2
Quick LinksEntrez ID:64478; OMIM: 608397; Uniprot ID:CSMD1_HUMAN; ENSEMBL ID: ENSG00000183117; HGNC ID: 14026
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
40N-linked (GlcNAc...) (Potential).
57N-linked (GlcNAc...) (Potential).
588N-linked (GlcNAc...) (Potential).
687N-linked (GlcNAc...) (Potential).
956N-linked (GlcNAc...) (Potential).
1016N-linked (GlcNAc...) (Potential).
1035N-linked (GlcNAc...) (Potential).
1185N-linked (GlcNAc...) (Potential).
1198N-linked (GlcNAc...) (Potential).
1400N-linked (GlcNAc...) (Potential).
1455N-linked (GlcNAc...) (Potential).
1573N-linked (GlcNAc...) (Potential).
1645N-linked (GlcNAc...) (Potential).
1793N-linked (GlcNAc...) (Potential).
1806N-linked (GlcNAc...) (Potential).
1883N-linked (GlcNAc...) (Potential).
2019N-linked (GlcNAc...) (Potential).
2150N-linked (GlcNAc...) (Potential).
2155N-linked (GlcNAc...) (Potential).
2188N-linked (GlcNAc...) (Potential).
2359N-linked (GlcNAc...) (Potential).
2395N-linked (GlcNAc...) (Potential).
2401N-linked (GlcNAc...) (Potential).
2446N-linked (GlcNAc...) (Potential).
2471N-linked (GlcNAc...) (Potential).
2504N-linked (GlcNAc...) (Potential).
2606N-linked (GlcNAc...) (Potential).
2751N-linked (GlcNAc...) (Potential).
2762N-linked (GlcNAc...) (Potential).
2796N-linked (GlcNAc...) (Potential).
2895N-linked (GlcNAc...) (Potential).
2964N-linked (GlcNAc...) (Potential).
3023N-linked (GlcNAc...) (Potential).
3057N-linked (GlcNAc...) (Potential).
3106N-linked (GlcNAc...) (Potential).
3229N-linked (GlcNAc...) (Potential).
3261N-linked (GlcNAc...) (Potential).
3340N-linked (GlcNAc...) (Potential).
3380N-linked (GlcNAc...) (Potential).
3387N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
40N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
57N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
588N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
687N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
956N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1016N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1035N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1185N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1198N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1400N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1455N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1573N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1645N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1793N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1806N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1883N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2019N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2150N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2188N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2359N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2395N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2401N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2446N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2471N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2504N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2606N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2751N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2762N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2796N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2895N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2964N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3023N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3057N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3106N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3229N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3261N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3340N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3380N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3387N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
40N-linkedHMM predict
45Phosphoserine(CDC2)HMM predict
57N-linkedHMM predict
216O-linkedHMM predict
216O-linkedHMM predict
217O-linkedHMM predict
217O-linkedHMM predict
218Phosphoserine(IKK)HMM predict
221Phosphoserine(CDC2)HMM predict
221Phosphoserine(CDK)HMM predict
394Phosphothreonine(PKA)HMM predict
513Phosphoserine(CDC2)HMM predict
513Phosphoserine(CDK)HMM predict
520Phosphotyrosine(EGFR)HMM predict
525O-linkedHMM predict
588N-linkedHMM predict
605SulfotyrosineHMM predict
680Phosphoserine(CK1)HMM predict
687N-linkedHMM predict
823Phosphoserine(CDK)HMM predict
873Phosphoserine(IKK)HMM predict
907Phosphoserine(ATM)HMM predict
944Phosphoserine(CDC2)HMM predict
956N-linkedHMM predict
984Phosphotyrosine(INSR)HMM predict
992Phosphoserine(IKK)HMM predict
1016N-linkedHMM predict
1035N-linkedHMM predict
1166Phosphoserine(CDC2)HMM predict
1185N-linkedHMM predict
1189N-linkedHMM predict
1198N-linkedHMM predict
1200Phosphoserine(CK2)HMM predict
1385O-linkedHMM predict
1400N-linkedHMM predict
1455N-linkedHMM predict
1525Phosphoserine(ATM)HMM predict
1573N-linkedHMM predict
1645N-linkedHMM predict
1646Phosphotyrosine(INSR)HMM predict
1696Phosphoserine(CK1)HMM predict
1696Phosphoserine(ATM)HMM predict
1744Phosphoserine(IKK)HMM predict
1793N-linkedHMM predict
1798O-linkedHMM predict
1806N-linkedHMM predict
1872Phosphoserine(IKK)HMM predict
1874O-linkedHMM predict
1876O-linkedHMM predict
1883N-linkedHMM predict
1887N-linkedHMM predict
1932Phosphotyrosine(INSR)HMM predict
1988Phosphoserine(CDC2)HMM predict
2019N-linkedHMM predict
2025N-linkedHMM predict
2149Phosphotyrosine(Syk)HMM predict
2150N-linkedHMM predict
2155N-linkedHMM predict
2157O-linkedHMM predict
2167SulfotyrosineHMM predict
2188N-linkedHMM predict
2227Phosphotyrosine(SRC)HMM predict
2228Phosphoserine(CK1)HMM predict
2272Phosphothreonine(CK2)HMM predict
2329Phosphoserine(PKA)HMM predict
2359N-linkedHMM predict
2395N-linkedHMM predict
2401N-linkedHMM predict
2407N-linkedHMM predict
2446N-linkedHMM predict
2470Phosphoserine(IKK)HMM predict
2471N-linkedHMM predict
2477N-linkedHMM predict
2504N-linkedHMM predict
2510N-linkedHMM predict
2531Phosphoserine(ATM)HMM predict
2590Phosphoserine(MAPK)HMM predict
2606N-linkedHMM predict
2610N-linkedHMM predict
2751N-linkedHMM predict
2756N-linkedHMM predict
2762N-linkedHMM predict
2766N-linkedHMM predict
2787Phosphoserine(CDC2)HMM predict
2796N-linkedHMM predict
2895N-linkedHMM predict
2956Phosphoserine(CDC2)HMM predict
2964N-linkedHMM predict
2984Phosphothreonine(CDC2)HMM predict
2984Phosphothreonine(MAPK)HMM predict
3023N-linkedHMM predict
3057N-linkedHMM predict
3087N-linkedHMM predict
3106N-linkedHMM predict
3122Phosphotyrosine(INSR)HMM predict
3122Phosphotyrosine(Jak)HMM predict
3168Phosphoserine(PKG)HMM predict
3173Phosphothreonine(PKC)HMM predict
3184Phosphoserine(CDC2)HMM predict
3234Phosphotyrosine(INSR)HMM predict
3244S-palmitoylHMM predict
3246MethyllysineHMM predict
3254O-linkedHMM predict
3261N-linkedHMM predict
3281Phosphothreonine(MAPK)HMM predict
3328Phosphoserine(CDC2)HMM predict
3340N-linkedHMM predict
3344O-linkedHMM predict
3346Phosphothreonine(MAPK)HMM predict
3346Phosphothreonine(CDK)HMM predict
3380N-linkedHMM predict
3387N-linkedHMM predict
3439Phosphotyrosine(INSR)HMM predict
3477Phosphoserine(CK1)HMM predict
3479Phosphoserine(CK1)HMM predict
3485O-linkedHMM predict
3486O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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


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