AutismKB 2.0

Annotation Detail for BMS1


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Basic Information Top
Gene Symbol:BMS1 ( BMS1L,KIAA0187 )
Gene Full Name: BMS1 homolog, ribosome assembly protein (yeast)
Band: 10q11.21
Quick LinksEntrez ID:9790; OMIM: 611448; Uniprot ID:BMS1_HUMAN; ENSEMBL ID: ENSG00000165733; HGNC ID: 23505
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
504Phosphoserine.
552Phosphoserine.
624Phosphoserine.
625Phosphoserine.
638Phosphothreonine.
639Phosphoserine.
708Phosphothreonine.
820Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
76Phosphothreonine(MAPK)HMM predict
76Phosphothreonine(CDK)HMM predict
105N-linkedHMM predict
255Phosphotyrosine(INSR)HMM predict
281Phosphoserine(PKG)HMM predict
293N-linkedHMM predict
439Phosphoserine(CK2)HMM predict
439Phosphoserine(ATM)HMM predict
442Phosphoserine(ATM)HMM predict
442Phosphoserine(CK2)HMM predict
451Phosphoserine(CK1)HMM predict
458N-linkedHMM predict
460Phosphoserine(CK2)HMM predict
461Phosphoserine(CK2)HMM predict
477Phosphotyrosine(SRC)HMM predict
511Phosphoserine(CK2)HMM predict
512Phosphoserine(CK1)HMM predict
524PhosphoserineHMM predict
525Phosphoserine(CK1)HMM predict
525Phosphoserine(CK2)HMM predict
535O-linkedHMM predict
538O-linkedHMM predict
590Phosphoserine(CK2)HMM predict
594Phosphoserine(CK1)HMM predict
594Phosphoserine(IKK)HMM predict
597Phosphoserine(CK2)HMM predict
597Phosphoserine(CK1)HMM predict
598Phosphoserine(CK1)HMM predict
599Phosphoserine(CK1)HMM predict
601Phosphoserine(CK2)HMM predict
601Phosphoserine(CK1)HMM predict
607Phosphoserine(CK1)HMM predict
618PhosphoserineHMM predict
618Phosphoserine(PKG)HMM predict
621Phosphoserine(ATM)HMM predict
651Phosphotyrosine(INSR)HMM predict
651Phosphotyrosine(SRC)HMM predict
651Phosphotyrosine(Syk)HMM predict
651SulfotyrosineHMM predict
651Phosphotyrosine(EGFR)HMM predict
656N-linkedHMM predict
658Phosphoserine(CK1)HMM predict
780Phosphotyrosine(EGFR)HMM predict
780SulfotyrosineHMM predict
780Phosphotyrosine(Syk)HMM predict
840SulfotyrosineHMM predict
885Phosphotyrosine(EGFR)HMM predict
921Phosphotyrosine(Jak)HMM predict
987Phosphothreonine(CDC2)HMM predict
987Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014753
  • Location:chr10 42598264-42646854
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 42583627 42583836 209 14533
CBP T0-glioblastomaGSE21026 42594501 42594964 463 3532
GABP HelaGSE8489 42595724 42597432 1708 1687
GABP k562GSE8489 42595724 42597432 1708 1687
Gata2 K562GSE18868 42583996 42584791 795 13871
H3ac HepG2E 42596174 42597432 1258 1462
P300 T30-glioblastomaGSE21026 42597672 42598733 1061 62
PHF8 HeLaGSE20725 42597588 42598626 1038 158
PHF8 Hs68minusFBSGSE20725 42597483 42598814 1331 116
PHF8 Hs68plusFBSGSE20725 42597352 42599042 1690 68
TAF k562GSE8489 42595724 42597432 1708 1687
TAFII hESGSE17917 42597859 42598546 687 62
TFAP2C MCF7GSE21234 42585077 42585474 397 12989
VDR GM10861-UnstimGSE22484 42597270 42598907 1637 176
p130 SenescentGSE19898 42597637 42598588 951 152
p130 shRbQuiescentGSE19898 42597445 42598438 993 323
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 42664113 42664155 42 17280
Oct1 HelaGSE14283 42664078 42664154 76 17262
hScc1 BcellGSE12603 42652289 42652783 494 5682
p63 keratinocytesGSE17611 42666115 42667268 1153 19837
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 42597737 42598953 1216 0
GABP HelaGSE8489 42597821 42600275 2454 0
GABP HepG2GSE8489 42606333 42606732 399 0
GABP k562GSE8489 42597782 42601784 4002 0
H3K4me3 colorectalcancer 42598415 42599144 729 0
H3ac HepG2E 42597782 42599810 2028 0
Nanog ESGSE20650 42632309 42632753 444 0
Nanog hESGSE18292 42644009 42644319 310 0
P300 T0-glioblastomaGSE21026 42597990 42599085 1095 0
RARG MCF7GSE15244 42598246 42598580 334 0
SRF HepG2GSE8489 42606333 42606780 447 0
TAF k562GSE8489 42598246 42600352 2106 0
TAF k562GSE8489 42630543 42631194 651 0
hScc1 BcellGSE12603 42598415 42598861 446 0
Validated miRNA targets Top
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