AutismKB 2.0

Evidence Details for SLFN13


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Basic Information Top
Gene Symbol:SLFN13 ( DKFZp666J196,DKFZp686I026,FLJ31952,SLFN10 )
Gene Full Name: schlafen family member 13
Band: 17q12
Quick LinksEntrez ID:146857; OMIM: NA; Uniprot ID:SLN13_HUMAN; ENSEMBL ID: ENSG00000154760; HGNC ID: 26481
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLFN13|146857|nucleotide
ATGGAGGCAAATCACTGCTCCCTGGGTGTGTATCCATCTTACCCAGACCTGGTCATCGATGTCGGAGAAGTGACTCTGGGAGAAGAAAACAGAAAAAAGCTACAG
AAAACTCAGAGAGACCAAGAGAGGGCGAGAGTTATACGGGCCGCGTGTGCTTTATTAAACTCAGGAGGAGGAGTGATTCAGATGGAAATGGCCAACAGGGATGAG
CGTCCCACAGAGATGGGACTGGATTTAGAAGAATCCTTGAGAAAGCTTATTCAGTATCCATATTTGCAGGCTTTCTTTGAGACTAAGCAACACGGAAGGTGTTTT
TATATTTTTGTTAAATCTTGGAGTGGTGATCCTTTCCTTAAAGATGGTTCTTTCAATTCCCGCATTTGCAGCCTTAGTTCTTCATTATACTGTAGATCTGGCACC
TCTGTGCTTCACATGAATTCAAGACAGGCATTCGATTTCCTGAAGACCAAGGAAAGACAGTCCAAATATAATCTGATTAATGAAGGGTCTCCACCTAGTAAAATT
ATGAAAGCTGTATACCAGAACATATCTGAGTCAAATCCTGCATATGAAGTTTTCCAAACTGACACTATTGAATATGGTGAAATCCTATCTTTTCCTGAGTCTCCA
TCCATAGAGTTTAAACAGTTCTCTACAAAACATATCCAACAATATGTAGAAAATATAATTCCAGAGTACATCTCTGCATTTGCAAACACTGAGGGAGGCTATCTT
TTTATTGGAGTGGATGATAAGAGTAGGAAAGTCCTGGGATGTGCCAAAGAACAGGTTGACCCTGACTCTTTGAAAAATGTAATTGCAAGAGCAATTTCTAAGTTG
CCCATTGTTCATTTTTGCTCTTCAAAACCTCGGGTAGAGTACAGCACCAAAATCGTAGAAGTGTTTTGTGGGAAAGAGTTGTATGGCTATCTCTGTGTGATTAAA
GTGAAGGCATTCTGTTGTGTGGTGTTCTCGGAAGCTCCCAAGTCATGGATGGTGAGGGAGAAGTACATCCGCCCCTTGACAACTGAGGAATGGGTAGAGAAAATG
ATGGACGCAGATCCAGAGTTTCCTCCAGACTTTGCTGAGGCCTTTGAGTCTCAGTTGAGTCTATCTGACAGTCCTTCACTTTGCAGACCAGTGTATTCTAAGAAA
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>SLFN13|146857|protein
MEANHCSLGVYPSYPDLVIDVGEVTLGEENRKKLQKTQRDQERARVIRAACALLNSGGGVIQMEMANRDERPTEMGLDLEESLRKLIQYPYLQAFFETKQHGRCF
YIFVKSWSGDPFLKDGSFNSRICSLSSSLYCRSGTSVLHMNSRQAFDFLKTKERQSKYNLINEGSPPSKIMKAVYQNISESNPAYEVFQTDTIEYGEILSFPESP
SIEFKQFSTKHIQQYVENIIPEYISAFANTEGGYLFIGVDDKSRKVLGCAKEQVDPDSLKNVIARAISKLPIVHFCSSKPRVEYSTKIVEVFCGKELYGYLCVIK
VKAFCCVVFSEAPKSWMVREKYIRPLTTEEWVEKMMDADPEFPPDFAEAFESQLSLSDSPSLCRPVYSKKGLEHKADLQQHLFPVPPGHLECTPESLWKELSLQH
EGLKELIHKQMRPFSQGIVILSRSWAVDLNLQEKPGVICDALLIAQNSTPILYTILREQDAEGQDYCTRTAFTLKQKLVNMGGYTGKVCVRAKVLCLSPESSAEA
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

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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