AutismKB 2.0

Annotation Detail for RBPJL


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Basic Information Top
Gene Symbol:RBPJL ( RBP-L,RBPSUHL,SUH,SUHL )
Gene Full Name: recombination signal binding protein for immunoglobulin kappa J region-like
Band: 20q13.12
Quick LinksEntrez ID:11317; OMIM: NA; Uniprot ID:RBPJL_HUMAN; ENSEMBL ID: ENSG00000124232; HGNC ID: 13761
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
10O-linkedHMM predict
17Phosphothreonine(CDK)HMM predict
37Phosphoserine(IKK)HMM predict
37Phosphoserine(CK1)HMM predict
45O-linkedHMM predict
46Phosphoserine(CDC2)HMM predict
46O-linkedHMM predict
46Phosphoserine(CDK)HMM predict
130Phosphoserine(IKK)HMM predict
130Phosphoserine(CK2)HMM predict
132Phosphoserine(IKK)HMM predict
227O-linkedHMM predict
308Phosphoserine(ATM)HMM predict
320Phosphoserine(ATM)HMM predict
320Phosphoserine(CDC2)HMM predict
328Phosphotyrosine(INSR)HMM predict
354N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014276
  • Location:chr20 43368904-43379875
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43368671 43368814 143 162
CTCF CD4SISSRdata 43368671 43368814 143 162
CTCF HelaGSE12889 43368628 43368818 190 182
CTCF JurkatGSE12889 43368648 43368933 285 114
CTCF G2GSE9613 43368429 43369177 748 102
Rb SenescentGSE19898 43368597 43368829 232 192
hScc1 BcellGSE12603 43368429 43369177 748 102
p130 SenescentGSE19898 43368643 43368935 292 116
p130 shRbSenescentGSE19898 43368545 43368935 390 165
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43381676 43381860 184 1893
CTCF CD4SISSRdata 43381676 43381860 184 1893
CTCF G2GSE9613 43381235 43381788 553 1636
hScc1 BcellGSE12603 43380715 43381788 1073 1376
hScc1 CdLSGSE12603 43381571 43381788 217 1804
hScc1 G2GSE9613 43381535 43381788 253 1786
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43373605 43373941 336 0
CTCF CD4SISSRdata 43373605 43373941 336 0
CTCF G2GSE9613 43373201 43374083 882 0
hScc1 BcellGSE12603 43373201 43373996 795 0
hScc1 BcellGSE12603 43378225 43378924 699 0
hScc1 G2GSE9613 43373201 43374051 850 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 20116252
hsa-let-7a hsa-let-7a-2 11 20116252
hsa-let-7a hsa-let-7a-3 22 20116252
hsa-let-7a* hsa-let-7a-1 9 20116252
hsa-let-7a* hsa-let-7a-3 22 20116252
hsa-let-7b hsa-let-7b 22 20116252
hsa-let-7b* hsa-let-7b 22 20116252
hsa-let-7c hsa-let-7c 21 20116252
hsa-let-7c* hsa-let-7c 21 20116252
hsa-let-7d hsa-let-7d 9 20116252
hsa-let-7d* hsa-let-7d 9 20116252
hsa-let-7e hsa-let-7e 19 20116252
hsa-let-7e* hsa-let-7e 19 20116252
hsa-let-7f hsa-let-7f-1 9 20116252
hsa-let-7f hsa-let-7f-2 X 20116252
hsa-let-7f-1* hsa-let-7f-1 9 20116252
hsa-let-7f-2* hsa-let-7f-2 X 20116252
hsa-let-7g hsa-let-7g 3 20116252
hsa-let-7g* hsa-let-7g 3 20116252
hsa-let-7i hsa-let-7i 12 20116252
hsa-let-7i* hsa-let-7i 12 20116252
No data
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
16421 mRNA RBPSUHL chr20 43368904 43379876 77 mRNA MATN4 chr20 43355504 43370353Sense/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


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