AutismKB 2.0

Annotation Detail for SMC6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMC6 ( FLJ22116,FLJ35534,SMC-6,SMC6L1,hSMC6 )
Gene Full Name: structural maintenance of chromosomes 6
Band: 2p24.2
Quick LinksEntrez ID:79677; OMIM: 609387; Uniprot ID:SMC6_HUMAN; ENSEMBL ID: ENSG00000163029; HGNC ID: 20466
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
666Phosphoserine.
669Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
8N-linkedHMM predict
10Phosphoserine(CK1)HMM predict
11Phosphoserine(CDK)HMM predict
11Phosphoserine(CDC2)HMM predict
14N-linkedHMM predict
78N-linkedHMM predict
105Phosphoserine(PKA)HMM predict
162Phosphoserine(IKK)HMM predict
166Phosphothreonine(PKC)HMM predict
223SulfotyrosineHMM predict
225SulfotyrosineHMM predict
260Phosphoserine(IKK)HMM predict
325SulfotyrosineHMM predict
325Phosphotyrosine(Syk)HMM predict
360Phosphotyrosine(EGFR)HMM predict
626Phosphoserine(ATM)HMM predict
669Phosphoserine(CK1)HMM predict
677N-linkedHMM predict
720N-linkedHMM predict
748N-linkedHMM predict
780Phosphotyrosine(Syk)HMM predict
902Phosphotyrosine(Jak)HMM predict
902Phosphotyrosine(Syk)HMM predict
911Phosphothreonine(PKC)HMM predict
930Phosphotyrosine(EGFR)HMM predict
936S-palmitoylHMM predict
938Phosphothreonine(PKC)HMM predict
964N-linkedHMM predict
968Phosphoserine(CK1)HMM predict
970Phosphoserine(ATM)HMM predict
1020Phosphotyrosine(INSR)HMM predict
1020Phosphotyrosine(SRC)HMM predict
1020Phosphotyrosine(Syk)HMM predict
1054Phosphoserine(IKK)HMM predict
1055Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024624
  • Location:chr2 17708561-17798540
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17764387 17764583 196 0
CTCF CD4SISSRdata 17764387 17764583 196 0
CTCF G2GSE9613 17797930 17798268 338 0
ER E2-MCF7GSE14664 17746191 17746228 37 0
ER Fulvestrant-MCF7GSE14664 17746191 17746229 38 0
GABP k562GSE8489 17784682 17785276 594 0
H3K4me3 colorectalcancer 17797287 17798114 827 0
H3ac HepG2E 17797287 17798065 778 0
Oct1 H2O2-HelaGSE14283 17732195 17732225 30 0
Oct1 HelaGSE14283 17709997 17710026 29 0
Oct1 HelaGSE14283 17732188 17732227 39 0
Oct1 HelaGSE14283 17745870 17745948 78 0
Oct1 HelaGSE14283 17746183 17746221 38 0
Oct1 HelaGSE14283 17788719 17788753 34 0
SRF HelaGSE8489 17784682 17784892 210 0
TAF HelaGSE8489 17797287 17797966 679 0
TAF k562GSE8489 17784682 17785099 417 0
TAF k562GSE8489 17797287 17797930 643 0
hScc1 BcellGSE12603 17764317 17764695 378 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
13963 HTC chr2 17856190 17857942 168 mRNA SMC6L1 chr2 17766708 17856688Sense/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