AutismKB 2.0

Annotation Detail for RBMS1


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Basic Information Top
Gene Symbol:RBMS1 ( C2orf12,DKFZp564H0764,HCC-4,MGC15146,MGC3331,MGC70597,MGC97258,MGC97270,MGC97282,MGC99543,MSSP,MSSP-1,MSSP-2,MSSP-3,SCR2,YC1 )
Gene Full Name: RNA binding motif, single stranded interacting protein 1
Band: 2q24.2
Quick LinksEntrez ID:5937; OMIM: 602310; Uniprot ID:RBMS1_HUMAN; ENSEMBL ID: ENSG00000153250; HGNC ID: 9907
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
112Phosphoserine.
208Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
18SulfotyrosineHMM predict
27Phosphoserine(PKG)HMM predict
38O-linkedHMM predict
38Phosphoserine(IKK)HMM predict
41O-linkedHMM predict
42O-linkedHMM predict
43Phosphoserine(IKK)HMM predict
44Phosphoserine(IKK)HMM predict
46N-linkedHMM predict
47N-linkedHMM predict
51Phosphoserine(CK1)HMM predict
52Phosphoserine(CK1)HMM predict
53N-linkedHMM predict
151Phosphoserine(MAPK)HMM predict
237Phosphotyrosine(INSR)HMM predict
262O-linkedHMM predict
273Phosphoserine(CDC2)HMM predict
273Phosphoserine(ATM)HMM predict
276Phosphoserine(IKK)HMM predict
294Phosphoserine(MAPK)HMM predict
294Phosphoserine(CDC2)HMM predict
322Phosphothreonine(MAPK)HMM predict
338Phosphoserine(MAPK)HMM predict
354O-linkedHMM predict
355Phosphotyrosine(INSR)HMM predict
355Phosphotyrosine(SRC)HMM predict
360O-linkedHMM predict
366Phosphotyrosine(Jak)HMM predict
370Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
261 Unknown MicroArray miR-124 RBMS1 n_a 15685193
1272 Unknown pSILAC miR-30 RBMS1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000153250 G1-to-S transition n_a n_a "lymphocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000153250 n_a n_a n_a "lymphocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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