AutismKB 2.0

Annotation Detail for RABL2B


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Basic Information Top
Gene Symbol:RABL2B ( FLJ93981,FLJ98216 )
Gene Full Name: RAB, member of RAS oncogene family-like 2B
Band: 22q13.33
Quick LinksEntrez ID:11158; OMIM: 605413; Uniprot ID:RBL2B_HUMAN; ENSEMBL ID: ENSG00000079974; HGNC ID: 9800
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
85Phosphoserine(IKK)HMM predict
85Phosphoserine(PKB)HMM predict
90SulfotyrosineHMM predict
108Phosphothreonine(PKA)HMM predict
108Phosphothreonine(PKC)HMM predict
111N-linkedHMM predict
139N-linkedHMM predict
199Phosphoserine(CK1)HMM predict
214Phosphoserine(CK2)HMM predict
215Phosphoserine(CK1)HMM predict
215Phosphoserine(IKK)HMM predict
218Phosphothreonine(MAPK)HMM predict
218Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003789
  • Location:chr22 49552785-49568952
  • strand:-
No data
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Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49560389 49561058 669 0
H3K4me2 HCT116GSE10453 49566911 49568371 1460 0
H3K4me3 colorectalcancer 49567770 49568595 825 0
H3ac HepG2E 49566732 49568661 1929 0
hScc1 BcellGSE12603 49568196 49569426 1230 0
Validated miRNA targets Top
No data
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
160 Unknown MicroArray miR-1 RABL2B n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000079974 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, lymphoblast, lymphocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia"
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
17685 mRNA MGC70863 chr22 49485657 49528078 167 mRNA RABL2B chr22 49496078 49512181Sense/Antisense (SA) 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