AutismKB 2.0

Annotation Detail for BLM


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Basic Information Top
Gene Symbol:BLM ( BS,MGC126616,MGC131618,MGC131620,RECQ2,RECQL2,RECQL3 )
Gene Full Name: Bloom syndrome, RecQ helicase-like
Band: 15q26.1
Quick LinksEntrez ID:641; OMIM: 604610; Uniprot ID:BLM_HUMAN; ENSEMBL ID: ENSG00000197299; HGNC ID: 1058
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
48Phosphoserine.
53Phosphoserine.
57Phosphothreonine.
114Phosphothreonine.
125Phosphothreonine.
282Phosphoserine.
358Phosphoserine.
419Phosphoserine.
422Phosphoserine.
480Phosphoserine.
499Phosphoserine.
508Phosphothreonine.
579Phosphoserine.
798DEAH box.
863N6-acetyllysine.
1295Phosphoserine.
1296Phosphoserine.
1303Phosphoserine.
1310Phosphoserine.
1349Nuclear localization signal (Potential).
1411N6-acetyllysine.
Location(AA) Modifications Resource
99Phosphothreonine (ATM)Phospho.ELM 6.0
122PhosphothreoninePhospho.ELM 6.0
419Phosphoserine.Swiss-Prot 53.0
419PhosphoserinePhospho.ELM 6.0
422PhosphoserinePhospho.ELM 6.0
422Phosphoserine.Swiss-Prot 53.0
499Phosphoserine.Swiss-Prot 53.0
508Phosphothreonine.Swiss-Prot 53.0
1296Phosphoserine.Swiss-Prot 53.0
1296PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
46N-linkedHMM predict
51N-linkedHMM predict
57Phosphothreonine(CDK)HMM predict
66N-linkedHMM predict
79N-linkedHMM predict
82N-linkedHMM predict
114Phosphothreonine(MAPK)HMM predict
121O-linkedHMM predict
125Phosphothreonine(MAPK)HMM predict
125O-linkedHMM predict
131Phosphoserine(PKG)HMM predict
144Phosphoserine(CDC2)HMM predict
144Phosphoserine(ATM)HMM predict
147Phosphoserine(IKK)HMM predict
163Phosphoserine(CK2)HMM predict
168O-linkedHMM predict
168Phosphoserine(IKK)HMM predict
171PhosphothreonineHMM predict
215Phosphoserine(CK2)HMM predict
257Phosphoserine(CK1)HMM predict
296Phosphotyrosine(Syk)HMM predict
304Phosphoserine(CDK)HMM predict
304Phosphoserine(CDC2)HMM predict
304Phosphoserine(ATM)HMM predict
316Phosphoserine(IKK)HMM predict
336Phosphoserine(CK1)HMM predict
343Phosphoserine(CK1)HMM predict
367Phosphoserine(PKA)HMM predict
367Phosphoserine(CAMK2)HMM predict
417N-linkedHMM predict
422Phosphoserine(IKK)HMM predict
454N-linkedHMM predict
508Phosphothreonine(CDC2)HMM predict
515N-linkedHMM predict
580O-linkedHMM predict
581O-linkedHMM predict
584Phosphotyrosine(SRC)HMM predict
605PhosphothreonineHMM predict
625N-linkedHMM predict
714Phosphoserine(CDK)HMM predict
714Phosphoserine(CDC2)HMM predict
750Phosphotyrosine(Jak)HMM predict
895S-palmitoylHMM predict
1032N-linkedHMM predict
1092Phosphoserine(CK1)HMM predict
1160Phosphotyrosine(INSR)HMM predict
1194N-linkedHMM predict
1197Phosphoserine(CK1)HMM predict
1254Phosphoserine(CK2)HMM predict
1255Phosphoserine(CK1)HMM predict
1295O-linkedHMM predict
1296Phosphoserine(ATM)HMM predict
1342Phosphoserine(ATM)HMM predict
1350Phosphothreonine(PKA)HMM predict
1363Phosphothreonine(PKC)HMM predict
1368Phosphoserine(PKG)HMM predict
1383Phosphoserine(IKK)HMM predict
1383O-linkedHMM predict
1385O-linkedHMM predict
1386Phosphoserine(IKK)HMM predict
1386O-linkedHMM predict
1386Phosphoserine(ATM)HMM predict
1389O-linkedHMM predict
1390Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000057
  • Location:chr15 89061582-89159687
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 89061298 89061711 413 78
E2F4 G0GSE7516 89061059 89062058 999 24
Fos K562GSE19551 89060948 89061950 1002 134
H3ac HepG2E 89061059 89061983 924 62
LIN54 G0GSE7516 89061059 89062058 999 24
LIN9 G0GSE7516 89061059 89062058 999 24
LIN9 SGSE7516 89061059 89062058 999 24
Oct1 HelaGSE14283 89052972 89053040 68 8577
PHF8 293TGSE20725 89060707 89062305 1598 77
PHF8 HeLaGSE20725 89060743 89062313 1570 55
Rb GrowingGSE19898 89060944 89061106 162 558
Rb SenescentGSE19898 89060962 89061349 387 427
USF1 HepG2E 89061059 89061878 819 114
p130 G0GSE7516 89061059 89062058 999 24
p130 SGSE7516 89061059 89062058 999 24
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 89162652 89164215 1563 3746
CTCF G2GSE9613 89164871 89165343 472 5420
NFkBII GM12878GSE19485 89173616 89174767 1151 14504
Oct1 H2O2-HelaGSE14283 89172989 89173024 35 13319
Oct1 HelaGSE14283 89169844 89169907 63 10188
Stat6 IL-4-hr1GSE17850 89162272 89163260 988 3079
hScc1 BcellGSE12603 89162755 89163123 368 3252
hScc1 BcellGSE12603 89163453 89164637 1184 4358
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 SGSE7516 89061154 89062058 904 0
ER E2-MCF7GSE14664 89064278 89064311 33 0
ER E2-MCF7GSE14664 89100905 89100939 34 0
ER E2-MCF7GSE14664 89128118 89128173 55 0
ER E2-MCF7GSE14664 89128689 89128727 38 0
ER E2-MCF7GSE14664 89131588 89131620 32 0
H3ac HepG2E 89062578 89063179 601 0
Nanog hESGSE18292 89158098 89158312 214 0
Oct1 H2O2-HelaGSE14283 89071646 89071674 28 0
Oct1 H2O2-HelaGSE14283 89072777 89072812 35 0
Oct1 H2O2-HelaGSE14283 89095449 89095489 40 0
Oct1 H2O2-HelaGSE14283 89114290 89114317 27 0
Oct1 H2O2-HelaGSE14283 89122468 89122499 31 0
Oct1 HelaGSE14283 89064279 89064327 48 0
Oct1 HelaGSE14283 89072774 89072863 89 0
Oct1 HelaGSE14283 89095449 89095489 40 0
Oct1 HelaGSE14283 89095595 89095643 48 0
Oct1 HelaGSE14283 89119649 89119685 36 0
Oct1 HelaGSE14283 89122466 89122542 76 0
Oct1 HelaGSE14283 89132085 89132117 32 0
Oct1 HelaGSE14283 89149090 89149125 35 0
Rb GrowingGSE19898 89061384 89061798 414 0
Rb QuiescentGSE19898 89061390 89061890 500 0
Rb SenescentGSE19898 89061421 89061805 384 0
Rb shRbSenescenceGSE19898 89061490 89061840 350 0
p130 QuiescentGSE19898 89061057 89062126 1069 0
p130 QuiescentGSE19898 89119268 89119461 193 0
p130 SenescentGSE19898 89061002 89062173 1171 0
p130 shRbQuiescentGSE19898 89061011 89062258 1247 0
p130 shRbSenescentGSE19898 89060983 89062235 1252 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


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