AutismKB 2.0

Evidence Details for SLFN12L


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Basic Information Top
Gene Symbol:SLFN12L ( - )
Gene Full Name: schlafen family member 12-like
Band: 17q12
Quick LinksEntrez ID:342615; OMIM: NA; Uniprot ID:SN12L_HUMAN; ENSEMBL ID: ENSG00000205045; HGNC ID: 33920
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLFN12L|342615|nucleotide
ATGGACCTCGCCAGAAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAAT
GTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTGTGTGTGCTCTGCTG
AATTCTGGAGGGGGAGTGATCAAGGCTGAAGTTGAGAATAAAGGCTATAGTTATAAAAAAGATGGAATAGGGCTAGATTTGGAAAATTCTTTTAGTAACATGCTG
CCATTTGTTCCTAATTTCCTGGACTTCATGCAGAATGGTAACTACTTTCACATTTTTGTGAAATCATGGAGCTTGGAAACCTCTGGTCCGCAGATTGCCACGTTG
AGCTCCAGTTTGTACAAGAGAGATGTAACGTCTGCAAAAGTCATGAATGCTTCTGCTGCACTGGAGTTCCTCAAAGACATGGAAAAAACTGGAGGGAGAGCATAT
TTAAGACCAGAATTCCCTGCAAAAAGGGCCTGTGTTGATGTACAAGAAGAAAGTAACATGGAAGCCTTGGCTGCTGATTTTTTTAACAGAACAGAACTTGGTTAT
AAAGAAAAATTGACCTTTACTGAATCCACACACGTTGAAATAAAAAACTTCTCGACTGAAAAGTTGTTACAACGAATTACAGAGATTCTCCCTCAATATGTTTCT
GCATTTGCAAATACTGATGGAGGATATTTATTCGTTGGTCTAAATGAAGATAAAGAAGTAATTGGCTTTAAAGCAGAGAAGAGTTATCTTACTAAGTTAGAAGAA
GTAACAAAAAATTCCATTGGGAAACTGCCTGTGCATCACTTCTGTGTGGAGAAGGGGACGATAAATTACTTATGCAAATTCCTTGGAGTATATGATAAAGGAAGG
CTTTGTGGATATGTGTATGCACTCAGAGTGGAACGCTTCTGCTGTGCAGTGTTTGCTAAAAAGCCTGATTCCTGGCACGTGAAAGATAACAGAGTTAAGCAGTTG
ACCGAGAAGGAATGGATCCAGTTCATGGTGGATTCAGAACCAGTATGTGAGGAACTGCCCTCTCCAGCAAGTACATCATCACCTGTCTCCCAGAGTTATCCTCTT
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>SLFN12L|342615|protein
MDLARKEFLRGNGLAAGKMNISIDLDTNYAELVLNVGRVTLGENNRKKMKDCQLRKQQNENVSRAVCALLNSGGGVIKAEVENKGYSYKKDGIGLDLENSFSNML
PFVPNFLDFMQNGNYFHIFVKSWSLETSGPQIATLSSSLYKRDVTSAKVMNASAALEFLKDMEKTGGRAYLRPEFPAKRACVDVQEESNMEALAADFFNRTELGY
KEKLTFTESTHVEIKNFSTEKLLQRITEILPQYVSAFANTDGGYLFVGLNEDKEVIGFKAEKSYLTKLEEVTKNSIGKLPVHHFCVEKGTINYLCKFLGVYDKGR
LCGYVYALRVERFCCAVFAKKPDSWHVKDNRVKQLTEKEWIQFMVDSEPVCEELPSPASTSSPVSQSYPLREYINFKIQPLRYHLPGLSEKITCAPKTFCRNLFS
QHEGLKQLICEEMGSVNKGSLIFSRSWSLDLGLQENHKVLCDALLISQDKPPVLYTFHMVQDEEFKDYSTQTAQTLKQKLAKIGGYTKKVCVMTKIFYLSPEGKT
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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