AutismKB 2.0

Annotation Detail for SLC6A8


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Basic Information Top
Gene Symbol:SLC6A8 ( CRT,CRTR,CT1,MGC87396 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Band: Xq28
Quick LinksEntrez ID:6535; OMIM: 300036; Uniprot ID:SC6A8_HUMAN; ENSEMBL ID: ENSG00000130821; HGNC ID: 11055
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
192N-linked (GlcNAc...) (Potential).
197N-linked (GlcNAc...) (Potential).
548N-linked (GlcNAc...) (Potential).
620Phosphothreonine.
Location(AA) Modifications Resource
192N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
197N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphoserine(PKG)HMM predict
11Phosphotyrosine(SRC)HMM predict
42Phosphothreonine(MAPK)HMM predict
54PhosphothreonineHMM predict
135Phosphotyrosine(Jak)HMM predict
135Phosphotyrosine(INSR)HMM predict
197N-linkedHMM predict
394Phosphothreonine(PKC)HMM predict
451S-palmitoylHMM predict
481O-linkedHMM predict
548N-linkedHMM predict
549N-linkedHMM predict
620Phosphothreonine(MAPK)HMM predict
623O-linkedHMM predict
623Phosphoserine(CK2)HMM predict
626Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005629
  • Location:chrX 152606585-152615233
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 152605788 152605934 146 725
CTCF CD4SISSRdata 152605788 152605934 146 725
CTCF G2GSE9613 152603213 152604877 1664 2541
CTCF G2GSE9613 152606017 152606894 877 130
hScc1 BcellGSE12603 152603022 152604075 1053 3037
hScc1 G2GSE9613 152603849 152604757 908 2283
hScc1 G2GSE9613 152605719 152606894 1175 279
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152615288 152616184 896 503
hScc1 G2GSE9613 152615246 152616184 938 482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152607434 152609814 2380 0
CTCF G2GSE9613 152610249 152610557 308 0
CTCF G2GSE9613 152611329 152611651 322 0
CTCF G2GSE9613 152612963 152614040 1077 0
CTCF G2GSE9613 152614585 152614969 384 0
ER Breast-CancerGSE22609 152613471 152613930 459 0
Gata2 K562GSE18868 152608140 152608733 593 0
Oct1 HelaGSE14283 152613344 152613423 79 0
PolII HeLaGSE12783 152605283 152608972 3689 0
hScc1 BcellGSE12603 152606598 152606894 296 0
hScc1 CdLSGSE12603 152606303 152606894 591 0
hScc1 G2GSE9613 152607434 152608186 752 0
hScc1 G2GSE9613 152608587 152608910 323 0
hScc1 G2GSE9613 152609222 152610651 1429 0
hScc1 G2GSE9613 152612838 152613788 950 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
28301 mRNA SLC6A8 chrX 152474238 152482887 22 EST chrX 152458402 152475309Sense/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


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