AutismKB 2.0

Annotation Detail for SLC29A1


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Basic Information Top
Gene Symbol:SLC29A1 ( ENT1,MGC1465,MGC3778 )
Gene Full Name: solute carrier family 29 (nucleoside transporters), member 1
Band: 6p21.1
Quick LinksEntrez ID:2030; OMIM: 602193; Uniprot ID:S29A1_HUMAN; ENSEMBL ID: ENSG00000112759; HGNC ID: 11003
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
48N-linked (GlcNAc...).
254Phosphoserine.
Location(AA) Modifications Resource
48N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
46Phosphoserine(ATM)HMM predict
63O-linkedHMM predict
75Phosphoserine(CK1)HMM predict
269Phosphoserine(IKK)HMM predict
271Phosphoserine(IKK)HMM predict
273Phosphoserine(ATM)HMM predict
273Phosphoserine(IKK)HMM predict
317Phosphoserine(IKK)HMM predict
387Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004955
  • Location:chr6 44295370-44309855
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44293169 44293692 523 1940
Fos K562GSE19551 44279668 44280222 554 15426
FoxA1 MCF7MACSdata 44279742 44280023 281 15488
H3ac HepG2E 44292407 44292760 353 2787
H3ac HepG2E 44293438 44294458 1020 1423
KLF4 hESGSE17917 44278673 44278846 173 16611
TFAP2C MCF7GSE21234 44294621 44295303 682 409
p130 QuiescentGSE19898 44290139 44290359 220 5122
p130 QuiescentGSE19898 44294929 44295121 192 346
p130 shRbSenescentGSE19898 44292956 44293297 341 2244
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44313589 44314004 415 3941
CTCF CD4SISSRdata 44313589 44314004 415 3941
CTCF G2GSE9613 44309633 44310550 917 236
CTCF G2GSE9613 44312842 44313865 1023 3498
CTCF G2GSE9613 44314283 44314653 370 4613
ER MCF7GSE19013 44313390 44314287 897 3983
FOXA1 MCF7GSE15244 44313182 44313686 504 3579
FoxA1 MCF7MACSdata 44313289 44313499 210 3539
SRF HepG2GSE8489 44314176 44314387 211 4426
hScc1 BcellGSE12603 44309728 44310455 727 236
hScc1 BcellGSE12603 44313252 44313865 613 3703
hScc1 CdLSGSE12603 44309879 44310209 330 189
hScc1 CdLSGSE12603 44313182 44313865 683 3668
hScc1 G2GSE9613 44309728 44310394 666 206
p130 shRbQuiescentGSE19898 44310138 44310654 516 541
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 44297344 44297523 179 0
CTCF G2GSE9613 44295201 44295784 583 0
CTCF G2GSE9613 44296992 44297938 946 0
CTCF G2GSE9613 44298740 44299753 1013 0
CTCF G2GSE9613 44302290 44302487 197 0
CTCF G2GSE9613 44304946 44305200 254 0
CTCF G2GSE9613 44305854 44306093 239 0
ER Breast-CancerGSE22609 44299420 44299933 513 0
ER MCF7GSE19013 44299300 44299875 575 0
Gata1 K562GSE18868 44301311 44302095 784 0
Gata2 K562GSE18868 44301227 44302666 1439 0
H3ac HepG2E 44299952 44300909 957 0
Myc hESGSE17917 44298984 44299373 389 0
Nanog hESGSE18292 44298411 44298596 185 0
Oct1 H2O2-HelaGSE14283 44301478 44301512 34 0
Oct1 HelaGSE14283 44301480 44301510 30 0
Rb GrowingGSE19898 44299263 44299396 133 0
Rb QuiescentGSE19898 44299249 44299408 159 0
Rb SenescentGSE19898 44299233 44299411 178 0
SRF GMOGSE8489 44307054 44307309 255 0
SRF HepG2GSE8489 44307093 44307309 216 0
p130 QuiescentGSE19898 44299088 44299465 377 0
p130 SenescentGSE19898 44299014 44299386 372 0
p130 shRbSenescentGSE19898 44299031 44299497 466 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


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