AutismKB 2.0

Annotation Detail for SLC6A7


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Basic Information Top
Gene Symbol:SLC6A7 ( PROT )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, L-proline), member 7
Band: 5q32
Quick LinksEntrez ID:6534; OMIM: 606205; Uniprot ID:SC6A7_HUMAN; ENSEMBL ID: ENSG00000011083; HGNC ID: 11054
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
182N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
182N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
14Phosphothreonine(PKA)HMM predict
39N-linkedHMM predict
112Phosphoserine(CDC2)HMM predict
182N-linkedHMM predict
188Phosphoserine(CDC2)HMM predict
209Phosphoserine(CDC2)HMM predict
220S-palmitoylHMM predict
231S-palmitoylHMM predict
274Phosphotyrosine(Jak)HMM predict
284Phosphoserine(CK1)HMM predict
320Phosphotyrosine(EGFR)HMM predict
347Phosphotyrosine(INSR)HMM predict
381Phosphoserine(ATM)HMM predict
506Phosphoserine(CDC2)HMM predict
526Phosphotyrosine(SRC)HMM predict
586N-linkedHMM predict
598Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014228
  • Location:chr5 149549712-149570826
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 149549427 149549512 85 243
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 149572083 149572253 170 1342
CTCF G2GSE9613 149572981 149573384 403 2356
CTCF G2GSE9613 149573982 149574451 469 3390
Sox2 hESGSE18292 149571347 149571592 245 643
TFAP2C MCF7GSE21234 149570951 149571630 679 464
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 149549764 149550193 429 0
CTCF G2GSE9613 149555961 149556118 157 0
CTCF G2GSE9613 149556595 149557084 489 0
CTCF G2GSE9613 149558805 149559107 302 0
CTCF G2GSE9613 149562156 149562515 359 0
CTCF G2GSE9613 149565484 149566753 1269 0
CTCF G2GSE9613 149570133 149571169 1036 0
Oct1 H2O2-HelaGSE14283 149558303 149558356 53 0
Oct1 H2O2-HelaGSE14283 149558516 149558595 79 0
Oct1 HelaGSE14283 149558301 149558407 106 0
Oct1 HelaGSE14283 149558457 149558602 145 0
TFAP2C MCF7GSE21234 149550640 149551228 588 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
21665 mRNA SLC6A7 chr5 149549712 149570827 7404 mRNA CAMK2A chr5 149563423 149649385 Non-exonic Bidirectional (NOB) 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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