AutismKB 2.0

Annotation Detail for SLC6A4


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Basic Information Top
Gene Symbol:SLC6A4 ( 5-HTT,5-HTTLPR,5HTT,HTT,OCD1,SERT,hSERT )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Band: 17q11.2
Quick LinksEntrez ID:6532; OMIM: 182138; Uniprot ID:SC6A4_HUMAN; ENSEMBL ID: ENSG00000108576; HGNC ID: 11050
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
208N-linked (GlcNAc...) (Potential).
217N-linked (GlcNAc...) (Potential).
611Phosphoserine (Potential).
613Phosphothreonine (Potential).
616Phosphothreonine (Potential).
Location(AA) Modifications Resource
208N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
217N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphoserine(CK2)HMM predict
33Phosphothreonine(MAPK)HMM predict
66O-linkedHMM predict
67O-linkedHMM predict
208N-linkedHMM predict
211N-linkedHMM predict
217N-linkedHMM predict
226Phosphoserine(MAPK)HMM predict
232Phosphotyrosine(EGFR)HMM predict
532Phosphoserine(ATM)HMM predict
545Phosphoserine(CDC2)HMM predict
616Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001045
  • Location:chr17 25549033-25586830
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 25586902 25587265 363 253
CTCF G2GSE9613 25587939 25588248 309 1263
ER E2-MCF7GSE14664 25590691 25590723 32 3877
Nanog hESGSE18292 25587745 25587990 245 1037
Oct1 HelaGSE14283 25590687 25590723 36 3875
hScc1 BcellGSE12603 25586723 25587083 360 73
hScc1 BcellGSE12603 25587797 25588248 451 1192
hScc1 BcellGSE12603 25589447 25589713 266 2750
hScc1 CdLSGSE12603 25587764 25588511 747 1307
p130 shRbSenescentGSE19898 25588812 25588967 155 2059
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 25563421 25565267 1846 0
NFkBII GM12892GSE19485 25558791 25559977 1186 0
NFkBII GM18526GSE19485 25563353 25565250 1897 0
Oct1 H2O2-HelaGSE14283 25584408 25584455 47 0
Oct1 HelaGSE14283 25552030 25552087 57 0
RARA MCF7GSE15244 25576905 25577527 622 0
RARG MCF7GSE15244 25576779 25577489 710 0
hScc1 BcellGSE12603 25563758 25564411 653 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