AutismKB 2.0

Evidence Details 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
Sequences Top
>SLC29A1|2030|nucleotide
ATGACAACCAGTCACCAGCCTCAGGACAGATACAAAGCTGTCTGGCTTATCTTCTTCATGCTGGGTCTGGGAACGCTGCTCCCGTGGAATTTTTTCATGACGGCC
ACTCAGTATTTCACAAACCGCCTGGACATGTCCCAGAATGTGTCCTTGGTCACTGCTGAACTGAGCAAGGACGCCCAGGCGTCAGCCGCCCCTGCAGCACCCTTG
CCTGAGCGGAACTCTCTCAGTGCCATCTTCAACAATGTCATGACCCTATGTGCCATGCTGCCCCTGCTGTTATTCACCTACCTCAACTCCTTCCTGCATCAGAGG
ATCCCCCAGTCCGTACGGATCCTGGGCAGCCTGGTGGCCATCCTGCTGGTGTTTCTGATCACTGCCATCCTGGTGAAGGTGCAGCTGGATGCTCTGCCCTTCTTT
GTCATCACCATGATCAAGATCGTGCTCATTAATTCATTTGGTGCCATCCTGCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGCTACACGGCCCCC
ATCATGAGTGGCCAGGGCCTAGCAGGCTTCTTTGCCTCCGTGGCCATGATCTGCGCTATTGCCAGTGGCTCGGAGCTATCAGAAAGTGCCTTCGGCTACTTTATC
ACAGCCTGTGCTGTTATCATTTTGACCATCATCTGTTACCTGGGCCTGCCCCGCCTGGAATTCTACCGCTACTACCAGCAGCTCAAGCTTGAAGGACCCGGGGAG
CAGGAGACCAAGTTGGACCTCATTAGCAAAGGAGAGGAGCCAAGAGCAGGCAAAGAGGAATCTGGAGTTTCAGTCTCCAACTCTCAGCCCACCAATGAAAGCCAC
TCTATCAAAGCCATCCTGAAAAATATCTCAGTCCTGGCTTTCTCTGTCTGCTTCATCTTCACTATCACCATTGGGATGTTTCCAGCCGTGACTGTTGAGGTCAAG
TCCAGCATCGCAGGCAGCAGCACCTGGGAACGTTACTTCATTCCTGTGTCCTGTTTCTTGACTTTCAATATCTTTGACTGGTTGGGCCGGAGCCTCACAGCTGTA
TTCATGTGGCCTGGGAAGGACAGCCGCTGGCTGCCAAGCCTGGTGCTGGCCCGGCTGGTGTTTGTGCCACTGCTGCTGCTGTGCAACATTAAGCCCCGCCGCTAC
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>SLC29A1|2030|protein
MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDAQASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSFLHQR
IPQSVRILGSLVAILLVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGSLFGLAGLLPASYTAPIMSGQGLAGFFASVAMICAIASGSELSESAFGYFI
TACAVIILTIICYLGLPRLEFYRYYQQLKLEGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPTNESHSIKAILKNISVLAFSVCFIFTITIGMFPAVTVEVK
SSIAGSSTWERYFIPVSCFLTFNIFDWLGRSLTAVFMWPGKDSRWLPSLVLARLVFVPLLLLCNIKPRRYLTVVFEHDAWFIFFMAAFAFSNGYLASLCMCFGPK
KVKPAEAETAGAIMAFFLCLGLALGAVFSFLFRAIV
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.758867 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1723971
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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