AutismKB 2.0

Annotation Detail for SMC1B


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Basic Information Top
Gene Symbol:SMC1B ( FLJ43748,SMC1BETA,SMC1L2,bK268H5,bK268H5.5 )
Gene Full Name: structural maintenance of chromosomes 1B
Band: 22q13.31
Quick LinksEntrez ID:27127; OMIM: 608685; Uniprot ID:SMC1B_HUMAN; ENSEMBL ID: ENSG00000077935; HGNC ID: 11112
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
882Phosphoserine.
883Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
28Phosphothreonine(PKA)HMM predict
34N-linkedHMM predict
40N-linkedHMM predict
160Phosphothreonine(CK2)HMM predict
211Phosphoserine(PKG)HMM predict
255Phosphoserine(CK1)HMM predict
280Phosphothreonine(CK2)HMM predict
402Phosphothreonine(CK2)HMM predict
837Phosphothreonine(PKC)HMM predict
881N-linkedHMM predict
969SulfotyrosineHMM predict
1008Phosphoserine(ATM)HMM predict
1029Phosphothreonine(PKC)HMM predict
1087N-linkedHMM predict
1088N-linkedHMM predict
1095Phosphoserine(CDC2)HMM predict
1200SulfotyrosineHMM predict
1217Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_148674
  • Location:chr22 44118610-44188163
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 44182465 44182656 191 0
Stat6 IL-4-hr1GSE17850 44151788 44152163 375 0
TAF HelaGSE8489 44171428 44171751 323 0
hScc1 BcellGSE12603 44187308 44188241 933 0
p63 keratinocytesGSE17611 44174352 44175308 956 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