AutismKB 2.0

Annotation Detail for RBL1


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Basic Information Top
Gene Symbol:RBL1 ( CP107,MGC40006,PRB1,p107 )
Gene Full Name: retinoblastoma-like 1 (p107)
Band: 20q11.23
Quick LinksEntrez ID:5933; OMIM: 116957; Uniprot ID:RBL1_HUMAN; ENSEMBL ID: ENSG00000080839; HGNC ID: 9893
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
332Phosphothreonine; by CDK2.
369Phosphothreonine; by CDK4.
385Phosphothreonine; by CDK2.
640Phosphoserine; by CDK2 and CDK4.
650Phosphoserine.
749Phosphoserine.
762Phosphoserine; by CDK2.
964Phosphoserine; by CDK2 and CDK4.
975Phosphoserine; by CDK2 and CDK4.
988Phosphoserine; by CDK2.
997Phosphothreonine; by CDK2.
1009Phosphoserine; by CDK2.
Location(AA) Modifications Resource
332Phosphothreonine (by CDK2).Swiss-Prot 53.0
332PhosphothreoninePhospho.ELM 6.0
340PhosphothreoninePhospho.ELM 6.0
369Phosphothreonine (by CDK4).Swiss-Prot 53.0
369Phosphothreonine (CDK4)Phospho.ELM 6.0
385Phosphothreonine (by CDK2).Swiss-Prot 53.0
385PhosphothreoninePhospho.ELM 6.0
615PhosphoserinePhospho.ELM 6.0
640Phosphoserine (CDK4)Phospho.ELM 6.0
640Phosphoserine (by CDK2 and CDK4).Swiss-Prot 53.0
650Phosphoserine (CDK4)Phospho.ELM 6.0
650Phosphoserine.Swiss-Prot 53.0
749PhosphoserinePhospho.ELM 6.0
762PhosphoserinePhospho.ELM 6.0
762Phosphoserine (by CDK2).Swiss-Prot 53.0
964Phosphoserine (by CDK2 and CDK4).Swiss-Prot 53.0
964Phosphoserine (CDK4)Phospho.ELM 6.0
975Phosphoserine (CDK4)Phospho.ELM 6.0
975Phosphoserine (by CDK2 and CDK4).Swiss-Prot 53.0
988PhosphoserinePhospho.ELM 6.0
988Phosphoserine (by CDK2).Swiss-Prot 53.0
997Phosphothreonine (by CDK2).Swiss-Prot 53.0
997PhosphothreoninePhospho.ELM 6.0
1009Phosphoserine (by CDK2).Swiss-Prot 53.0
1009PhosphoserinePhospho.ELM 6.0
1041PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
48N-linkedHMM predict
97Phosphoserine(PKG)HMM predict
151Phosphotyrosine(Syk)HMM predict
151Phosphotyrosine(Abl)HMM predict
228MethyllysineHMM predict
337Phosphothreonine(PKA)HMM predict
340Phosphothreonine(PKA)HMM predict
364Phosphoserine(PKA)HMM predict
364PhosphoserineHMM predict
409Phosphoserine(CK2)HMM predict
557Phosphoserine(CK1)HMM predict
649Phosphoserine(CK1)HMM predict
650Phosphoserine(CDC2)HMM predict
704O-linkedHMM predict
749Phosphoserine(CDC2)HMM predict
749Phosphoserine(CDK)HMM predict
767N-linkedHMM predict
787Phosphoserine(PKA)HMM predict
879Phosphotyrosine(Abl)HMM predict
915Phosphothreonine(MAPK)HMM predict
964Phosphoserine(ATM)HMM predict
975Phosphoserine(CDC2)HMM predict
980Phosphoserine(PKG)HMM predict
984Phosphoserine(IKK)HMM predict
984Phosphoserine(PKA)HMM predict
986Phosphotyrosine(INSR)HMM predict
988Phosphoserine(CDC2)HMM predict
992N-linkedHMM predict
997Phosphothreonine(MAPK)HMM predict
1007N-linkedHMM predict
1009Phosphoserine(CDC2)HMM predict
1028Phosphothreonine(PKC)HMM predict
1037Phosphoserine(CK2)HMM predict
1041PhosphoserineHMM predict
1041Phosphoserine(CDK)HMM predict
1041Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_183404
  • Location:chr20 35065390-35157823
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35158044 35158187 143 292
CTCF CD4SISSRdata 35158044 35158187 143 292
E2F4 G0GSE7516 35157335 35158443 1108 66
P300 T0-glioblastomaGSE21026 35157579 35158490 911 211
Rb GrowingGSE19898 35157716 35158229 513 149
Rb shRbQuiescentGSE19898 35157678 35158060 382 46
p130 QuiescentGSE19898 35157328 35158446 1118 64
p130 SenescentGSE19898 35157183 35158488 1305 12
p130 shRbQuiescentGSE19898 35157385 35158349 964 44
p130 G0GSE7516 35157262 35158443 1181 29
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35069751 35069992 241 0
CTCF CD4GSE12889 35143626 35143888 262 0
CTCF CD4SISSRdata 35069751 35069992 241 0
CTCF CD4SISSRdata 35143626 35143888 262 0
CTCF G2GSE9613 35143606 35144101 495 0
ETS1 JurkatGSE17954 35156817 35158549 1732 0
H3ac HepG2E 35155818 35156423 605 0
LIN54 G0GSE7516 35157499 35158115 616 0
LIN9 G0GSE7516 35156998 35158443 1445 0
LIN9 SGSE7516 35156998 35158443 1445 0
NFkBII GM12878GSE19485 35104928 35106732 1804 0
P300 T30-glioblastomaGSE21026 35156943 35158588 1645 0
PHF8 HeLaGSE20725 35156908 35158625 1717 0
Rb QuiescentGSE19898 35157093 35158183 1090 0
Rb SenescentGSE19898 35156897 35158544 1647 0
Rb shRbSenescenceGSE19898 35157217 35158185 968 0
p130 shRbSenescentGSE19898 35156934 35158317 1383 0
p130 SGSE7516 35156998 35158443 1445 0
Validated miRNA targets Top
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
16332 mRNA RBL1 chr20 35157601 35158995 223 mRNA RBL1 chr20 35059591 35157824Sense/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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