AutismKB 2.0

Annotation Detail for SLC6A3


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Basic Information Top
Gene Symbol:SLC6A3 ( DAT,DAT1 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Band: 5p15.33
Quick LinksEntrez ID:6531; OMIM: 126455; Uniprot ID:SC6A3_HUMAN; ENSEMBL ID: ENSG00000142319; HGNC ID: 11049
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
181N-linked (GlcNAc...) (Potential).
188N-linked (GlcNAc...) (Potential).
205N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
7PhosphoserinePhospho.ELM 6.0
181N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
188N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
205N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
181N-linkedHMM predict
182N-linkedHMM predict
185N-linkedHMM predict
188N-linkedHMM predict
190Phosphoserine(ATM)HMM predict
198Phosphoserine(IKK)HMM predict
205N-linkedHMM predict
335Phosphotyrosine(EGFR)HMM predict
356O-linkedHMM predict
613Phosphothreonine(PKA)HMM predict
613Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001044
  • Location:chr5 1445908-1498542
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 1500404 1502014 1610 2667
CTCF G2GSE9613 1500100 1500342 242 1679
CTCF G2GSE9613 1501105 1501465 360 2743
hScc1 BcellGSE12603 1499391 1499608 217 957
hScc1 G2GSE9613 1498120 1499608 1488 322
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1433546 1433815 269 12228
CTCF CD4SISSRdata 1433546 1433815 269 12228
CTCF G2GSE9613 1428942 1429175 233 16850
CTCF G2GSE9613 1431968 1432515 547 13667
CTCF G2GSE9613 1439114 1439844 730 6430
CTCF G2GSE9613 1440166 1440468 302 5592
CTCF G2GSE9613 1441167 1441355 188 4648
Fos K562GSE19551 1433139 1433650 511 12514
PHF8 Hs68minusFBSGSE20725 1438943 1439331 388 6772
hScc1 BcellGSE12603 1439404 1439844 440 6285
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 1461776 1461932 156 0
CTCF G2GSE9613 1448560 1449354 794 0
CTCF G2GSE9613 1452864 1454156 1292 0
CTCF G2GSE9613 1454767 1455296 529 0
CTCF G2GSE9613 1455545 1456913 1368 0
CTCF G2GSE9613 1458406 1459018 612 0
CTCF G2GSE9613 1459314 1459710 396 0
CTCF G2GSE9613 1460362 1460564 202 0
CTCF G2GSE9613 1461650 1462177 527 0
CTCF G2GSE9613 1462578 1463552 974 0
CTCF G2GSE9613 1463807 1464606 799 0
CTCF G2GSE9613 1465451 1465803 352 0
CTCF G2GSE9613 1466852 1467436 584 0
CTCF G2GSE9613 1469721 1470796 1075 0
CTCF G2GSE9613 1472914 1473315 401 0
CTCF G2GSE9613 1473578 1474006 428 0
CTCF G2GSE9613 1474573 1475189 616 0
CTCF G2GSE9613 1475563 1477943 2380 0
CTCF G2GSE9613 1485837 1486044 207 0
CTCF G2GSE9613 1488473 1489520 1047 0
CTCF G2GSE9613 1490634 1491003 369 0
CTCF G2GSE9613 1494428 1494723 295 0
CTCF G2GSE9613 1497407 1499191 1784 0
NRSF JurkatGSE13047 1461374 1464918 3544 0
NRSF mAbJurkat 1455296 1457691 2395 0
NRSF mAbJurkat 1457976 1458944 968 0
NRSF mAbJurkat 1460128 1461073 945 0
NRSF mAbJurkat 1461650 1464832 3182 0
NRSF mAbJurkat 1465451 1466548 1097 0
NRSF mAbJurkat 1469272 1470843 1571 0
NRSF mAbJurkat 1486212 1486771 559 0
NRSF-mono JurkatQuESTdata 1461436 1464937 3501 0
NRSF pAbJurkat 1460128 1461073 945 0
NRSF pAbJurkat 1461650 1464832 3182 0
NRSF pAbJurkat 1465451 1466032 581 0
NRSF pAbJurkat 1466852 1467436 584 0
NRSF-poly JurkatQuESTdata 1461374 1464727 3353 0
TAF HelaGSE8489 1488001 1488435 434 0
TFAP2C MCF7GSE21234 1447351 1448214 863 0
TFAP2C MCF7GSE21234 1462453 1462896 443 0
TFAP2C MCF7GSE21234 1495912 1496711 799 0
hScc1 BcellGSE12603 1463012 1463552 540 0
hScc1 BcellGSE12603 1469659 1469973 314 0
hScc1 BcellGSE12603 1475371 1476582 1211 0
hScc1 BcellGSE12603 1487187 1487333 146 0
hScc1 BcellGSE12603 1497647 1498304 657 0
hScc1 G2GSE9613 1464223 1464679 456 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-30a hsa-mir-30a 6 21338582
hsa-miR-30a* hsa-mir-30a 6 21338582
hsa-miR-30b hsa-mir-30b 8 21338582
hsa-miR-30b* hsa-mir-30b 8 21338582
hsa-miR-30c hsa-mir-30c-2 6 21338582
hsa-miR-30c hsa-mir-30c-1 1 21338582
hsa-miR-30c-1* hsa-mir-30c-1 1 21338582
hsa-miR-30c-2* hsa-mir-30c-2 6 21338582
hsa-miR-30d hsa-mir-30d 8 21338582
hsa-miR-30d* hsa-mir-30d 8 21338582
hsa-miR-30e hsa-mir-30e 1 21338582
hsa-miR-30e* hsa-mir-30e 1 21338582
No data
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


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