AutismKB 2.0

Annotation Detail for SRL


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Basic Information Top
Gene Symbol:SRL ( - )
Gene Full Name: sarcalumenin
Band: 16p13.3
Quick LinksEntrez ID:6345; OMIM: 604992; Uniprot ID:SRCA_HUMAN; ENSEMBL ID: ENSG00000185739; HGNC ID: 11295
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
99N-linked (GlcNAc...) (Potential).
740N-linked (GlcNAc...) (Potential).
848N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
99N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
740N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
848N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9S-palmitoylHMM predict
78Phosphoserine(CDC2)HMM predict
85O-linkedHMM predict
88O-linkedHMM predict
99N-linkedHMM predict
103O-linkedHMM predict
105Phosphoserine(ATM)HMM predict
130O-linkedHMM predict
149O-linkedHMM predict
150Phosphoserine(IKK)HMM predict
170O-linkedHMM predict
202O-linkedHMM predict
229Phosphoserine(ATM)HMM predict
294Phosphoserine(CK2)HMM predict
300Phosphothreonine(CK2)HMM predict
308Phosphoserine(CK1)HMM predict
308Phosphoserine(CK2)HMM predict
309Phosphoserine(CK2)HMM predict
309Phosphoserine(CK1)HMM predict
313Phosphoserine(CK1)HMM predict
317Phosphoserine(CK2)HMM predict
319PhosphoserineHMM predict
319Phosphoserine(CK2)HMM predict
331Phosphoserine(CK1)HMM predict
335Phosphoserine(CK1)HMM predict
335PhosphoserineHMM predict
341Phosphoserine(CK2)HMM predict
352Phosphothreonine(CK2)HMM predict
378Phosphoserine(ATM)HMM predict
378Phosphoserine(CK1)HMM predict
512Phosphotyrosine(Syk)HMM predict
580Phosphotyrosine(SRC)HMM predict
589O-linkedHMM predict
619Phosphoserine(CDC2)HMM predict
646PhosphothreonineHMM predict
740N-linkedHMM predict
772Phosphoserine(CK1)HMM predict
809Phosphotyrosine(Jak)HMM predict
812Phosphothreonine(PKC)HMM predict
848N-linkedHMM predict
860Phosphotyrosine(Syk)HMM predict
924Phosphothreonine(CDC2)HMM predict
924Phosphothreonine(CDK)HMM predict
927AsparagineHMM 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