AutismKB 2.0

Annotation Detail for RB1


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Basic Information Top
Gene Symbol:RB1 ( OSRC,RB,p105-Rb,pRb,pp110 )
Gene Full Name: retinoblastoma 1
Band: 13q14.2
Quick LinksEntrez ID:5925; OMIM: 180200; Uniprot ID:RB_HUMAN; ENSEMBL ID: ENSG00000139687; HGNC ID: 9884
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N,N-dimethylproline (By similarity).
37Phosphoserine.
249Phosphoserine; by CDK1.
252Phosphothreonine; by CDK1.
356Phosphothreonine.
373Phosphothreonine; by CDK1.
548N6-acetyllysine.
795Phosphoserine (By similarity).
807Phosphoserine; by CDK1.
811Phosphoserine; by CDK1.
821Phosphothreonine.
823Phosphothreonine.
826Phosphothreonine.
841Phosphothreonine.
855Phosphoserine.
860N6-methyllysine; by SMYD2; alternate.
876Nuclear localization signal (Probable).
882Phosphoserine.
896N6-acetyllysine.
Location(AA) Modifications Resource
249Phosphoserine (by CDC2).Swiss-Prot 53.0
249Phosphoserine (CDK
252Phosphothreonine (by CDC2).Swiss-Prot 53.0
252Phosphothreonine (CDK
373Phosphothreonine (CDK
373Phosphothreonine (by CDC2).Swiss-Prot 53.0
807Phosphoserine (by CDC2).Swiss-Prot 53.0
807Phosphoserine (CDK
811Phosphoserine (by CDC2).Swiss-Prot 53.0
811Phosphoserine (CDK
826Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphothreonine(MAPK)HMM predict
5Phosphothreonine(CDK)HMM predict
5Phosphothreonine(CDC2)HMM predict
9O-linkedHMM predict
37Phosphoserine(IKK)HMM predict
83Phosphoserine(CK1)HMM predict
180Phosphoserine(CK1)HMM predict
182Phosphoserine(CK1)HMM predict
247N-linkedHMM predict
249Phosphoserine(CDK)HMM predict
249Phosphoserine(CDC2)HMM predict
252Phosphothreonine(CDC2)HMM predict
252Phosphothreonine(MAPK)HMM predict
252Phosphothreonine(CDK)HMM predict
269N-linkedHMM predict
321Phosphotyrosine(Syk)HMM predict
356Phosphothreonine(MAPK)HMM predict
373Phosphothreonine(CDK)HMM predict
373Phosphothreonine(CDC2)HMM predict
373Phosphothreonine(MAPK)HMM predict
393Phosphoserine(CK2)HMM predict
406N-linkedHMM predict
410N-linkedHMM predict
454Phosphotyrosine(Jak)HMM predict
469Phosphoserine(PKG)HMM predict
503Phosphoserine(IKK)HMM predict
503Phosphoserine(ATM)HMM predict
529Phosphotyrosine(Syk)HMM predict
541N-linkedHMM predict
567Phosphoserine(CDC2)HMM predict
599N-linkedHMM predict
606Phosphotyrosine(Jak)HMM predict
608Phosphoserine(CDC2)HMM predict
608Phosphoserine(CDK)HMM predict
612Phosphoserine(CDC2)HMM predict
612Phosphoserine(CDK)HMM predict
623N-linkedHMM predict
627N-linkedHMM predict
671Phosphoserine(CK2)HMM predict
692Phosphotyrosine(Syk)HMM predict
749Phosphotyrosine(EGFR)HMM predict
749Phosphotyrosine(INSR)HMM predict
774O-linkedHMM predict
780O-linkedHMM predict
780Phosphoserine(CDC2)HMM predict
780PhosphoserineHMM predict
790Phosphotyrosine(Syk)HMM predict
795Phosphoserine(CDC2)HMM predict
805Phosphotyrosine(EGFR)HMM predict
805Phosphotyrosine(INSR)HMM predict
807Phosphoserine(CDK)HMM predict
807Phosphoserine(CDC2)HMM predict
811Phosphoserine(CDC2)HMM predict
811Phosphoserine(CDK)HMM predict
821Phosphothreonine(MAPK)HMM predict
826Phosphothreonine(MAPK)HMM predict
826Phosphothreonine(CDC2)HMM predict
826Phosphothreonine(PKA)HMM predict
826Phosphothreonine(CDK)HMM predict
882Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000321
  • Location:chr13 47775883-47954024
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 47775097 47776358 1261 156
GABP HelaGSE8489 47775203 47775564 361 500
GABP k562GSE8489 47775203 47775500 297 532
H3K4me3 colorectalcancer 47775203 47775458 255 553
H3ac HepG2E 47775203 47775672 469 446
Oct1 HelaGSE14283 47763669 47763697 28 12201
PHF8 293TGSE20725 47775178 47776473 1295 58
PHF8 Hs68minusFBSGSE20725 47775077 47776340 1263 175
PHF8 Hs68plusFBSGSE20725 47774998 47776510 1512 130
TAF HelaGSE8489 47775203 47775500 297 532
hScc1 CdLSGSE12603 47775305 47776240 935 111
p130 SenescentGSE19898 47775469 47776023 554 138
p130 shRbQuiescentGSE19898 47775032 47776049 1017 343
p130 shRbSenescentGSE19898 47775246 47776077 831 222
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47873124 47873390 266 0
CTCF CD4SISSRdata 47873124 47873390 266 0
CTCF G2GSE9613 47775597 47776305 708 0
CTCF G2GSE9613 47789330 47789466 136 0
CTCF G2GSE9613 47790486 47790924 438 0
CTCF G2GSE9613 47791390 47791594 204 0
CTCF G2GSE9613 47792185 47792443 258 0
ER E2-MCF7GSE14664 47790099 47790137 38 0
ER E2-MCF7GSE14664 47796533 47796565 32 0
GABP k562GSE8489 47784670 47785356 686 0
H3K4me3 colorectalcancer 47776595 47776941 346 0
H3ac HepG2E 47776417 47777738 1321 0
Oct1 H2O2-HelaGSE14283 47815812 47815839 27 0
Oct1 H2O2-HelaGSE14283 47910008 47910059 51 0
Oct1 HelaGSE14283 47815812 47815842 30 0
Oct1 HelaGSE14283 47818444 47818471 27 0
Oct1 HelaGSE14283 47869702 47869733 31 0
Oct1 HelaGSE14283 47871183 47871214 31 0
Oct1 HelaGSE14283 47910009 47910055 46 0
PolII HeLaGSE12783 47774933 47777252 2319 0
RUNX JurkatGSE17954 47798265 47798360 95 0
SRF k562GSE8489 47784670 47785050 380 0
STAT1 HeLaGSE12783 47872347 47874295 1948 0
TAF k562GSE8489 47776595 47777233 638 0
TAF k562GSE8489 47784670 47785050 380 0
hScc1 BcellGSE12603 47789466 47790133 667 0
hScc1 BcellGSE12603 47791504 47791661 157 0
hScc1 CdLSGSE12603 47776631 47777087 456 0
p63 keratinocytesGSE17611 47805901 47806795 894 0
p63 keratinocytesGSE17611 47896348 47897012 664 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-106a hsa-mir-106a X 20889678
hsa-miR-106a hsa-mir-106a X 16461460
hsa-miR-106a* hsa-mir-106a X 20889678
hsa-miR-106a* hsa-mir-106a X 16461460
hsa-miR-107 hsa-mir-107 10 21388952
hsa-miR-125a-3p hsa-mir-125a 19 20428827
hsa-miR-125a-3p hsa-mir-125a 19 20049626
hsa-miR-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 20428827
hsa-miR-125a-5p hsa-mir-125a 19 20049626
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-125b hsa-mir-125b-1 11 20428827
hsa-miR-125b hsa-mir-125b-2 21 20428827
hsa-miR-125b hsa-mir-125b-1 11 20049626
hsa-miR-125b hsa-mir-125b-2 21 20049626
hsa-miR-125b-1* hsa-mir-125b-1 11 20428827
hsa-miR-125b-1* hsa-mir-125b-1 11 20049626
hsa-miR-125b-2* hsa-mir-125b-2 21 20428827
hsa-miR-125b-2* hsa-mir-125b-2 21 20049626
hsa-miR-132 hsa-mir-132 17 21329664
hsa-miR-132* hsa-mir-132 17 21329664
hsa-miR-136 hsa-mir-136 14 21049042
hsa-miR-136* hsa-mir-136 14 21049042
hsa-miR-138 hsa-mir-138-2 16 19888451
hsa-miR-138 hsa-mir-138-1 3 19888451
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-144 hsa-mir-144 17 21049042
hsa-miR-144* hsa-mir-144 17 21049042
hsa-miR-149 hsa-mir-149 2 19950226
hsa-miR-149* hsa-mir-149 2 19950226
hsa-miR-150 hsa-mir-150 19 20428827
hsa-miR-150 hsa-mir-150 19 20049626
hsa-miR-150* hsa-mir-150 19 20428827
hsa-miR-150* hsa-mir-150 19 20049626
hsa-miR-155 hsa-mir-155 21 16461460
hsa-miR-155* hsa-mir-155 21 16461460
hsa-miR-16 hsa-mir-16-1 13 20643754
hsa-miR-16 hsa-mir-16-2 3 20643754
hsa-miR-16 hsa-mir-16-1 13 20428827
hsa-miR-16 hsa-mir-16-2 3 20428827
hsa-miR-16 hsa-mir-16-1 13 20049626
hsa-miR-16 hsa-mir-16-2 3 20049626
hsa-miR-17 hsa-mir-17 13 20643754
hsa-miR-17 hsa-mir-17 13 20049626
hsa-miR-17* hsa-mir-17 13 20643754
hsa-miR-17* hsa-mir-17 13 20049626
hsa-miR-18a hsa-mir-18a 13 21388952
hsa-miR-18a* hsa-mir-18a 13 21388952
hsa-miR-199a-3p hsa-mir-199a-1 19 21049042
hsa-miR-199a-3p hsa-mir-199a-2 1 21049042
hsa-miR-19a hsa-mir-19a 13 21388952
hsa-miR-19a* hsa-mir-19a 13 21388952
hsa-miR-20a hsa-mir-20a 13 16461460
hsa-miR-20a* hsa-mir-20a 13 16461460
hsa-miR-21 hsa-mir-21 17 16461460
hsa-miR-21* hsa-mir-21 17 16461460
hsa-miR-212 hsa-mir-212 17 21329664
hsa-miR-23b hsa-mir-23b 9 20133741
hsa-miR-23b* hsa-mir-23b 9 20133741
hsa-miR-26a hsa-mir-26a-1 3 20080666
hsa-miR-26a hsa-mir-26a-2 12 20080666
hsa-miR-26a hsa-mir-26a-1 3 16461460
hsa-miR-26a hsa-mir-26a-2 12 16461460
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-27b hsa-mir-27b 9 20133741
hsa-miR-27b* hsa-mir-27b 9 20133741
hsa-miR-29a hsa-mir-29a 7 20643754
hsa-miR-29a* hsa-mir-29a 7 20643754
hsa-miR-29b hsa-mir-29b-1 7 20643754
hsa-miR-29b hsa-mir-29b-2 1 20643754
hsa-miR-29b-1* hsa-mir-29b-1 7 20643754
hsa-miR-29b-2* hsa-mir-29b-2 1 20643754
hsa-miR-29c hsa-mir-29c 1 20643754
hsa-miR-29c* hsa-mir-29c 1 20643754
hsa-miR-335 hsa-mir-335 7 20713524
hsa-miR-335* hsa-mir-335 7 20713524
hsa-miR-34a hsa-mir-34a 1 20428827
hsa-miR-34a hsa-mir-34a 1 20049626
hsa-miR-34a* hsa-mir-34a 1 20428827
hsa-miR-34a* hsa-mir-34a 1 20049626
hsa-miR-383 hsa-mir-383 8 21368870
hsa-miR-410 hsa-mir-410 14 21170085
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-650 hsa-mir-650 22 21170085
hsa-miR-675 hsa-mir-675 11 19926638
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
227 mRNA repression TRUE miR-106a RB1 in vitro reporter gene assay (Luciferase) 16461460
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000139687 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
7182 mRNA RB1 chr13 47775911 47954023 4672 mRNA P2RY5 chr13 47883275 47887947 Non-exonic Bidirectional (NOB) 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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