AutismKB 2.0

Evidence Details for DCAF12L1


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Basic Information Top
Gene Symbol:DCAF12L1 ( KIAA1892L,WDR40B )
Gene Full Name: DDB1 and CUL4 associated factor 12-like 1
Band: Xq25
Quick LinksEntrez ID:139170; OMIM: NA; Uniprot ID:DC121_HUMAN; ENSEMBL ID: ENSG00000198889; HGNC ID: 29395
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCAF12L1|139170|nucleotide
ATGGCCCAGCAGCAAACAGGTAGCAGGAAACGGAAAGCGCCCGCGGTCGAGGCGGACGCCGAGAGCTCGCCGTCGCAGGGCTTGGCGGCAGCGGACGGTGAGGGG
CCGCTGCTACTCAAGAGGCAGAGGCGGCCGGCGACGTATCGCTCGATGGCGCACTATCTGAAGGTTCGGGAGGTAGGCGGGTGGGGCCCCGCCAGGCTCCAGGGC
TTCGATGGCGAGCTGCGGGGCTACGCGGTACAGAGGCTGCCCGAGCTGCTGACGGAGCGCCAACTGGAGCTGGGCACGGTCAACAAGGTGTTCGCGTCACAGTGG
CTGAACTCCAGGCAGGTGGTGTGCGGCACCAAGTGTAACACGCTTTTCGTGGTGGACGTGGAGTCAGGCCACATCGCGCGCATTCCCCTCTTGCGGGACAGTGAG
GCCAGGCTGGCCCAGGACCAACAGGGCTGCGGCATCCATGCCATCGAGCTGAATCCCTCCAAGACGCTTCTGGCCACCGGCGGCGAAAACCCCAACAGCCTGGCC
ATCTACCAGCTGCCCTCCCTGGATCCCCTGTGCCTGGGCGACCGCCATGGCCACAAGGACTGGATCTTCGCCGTCGCCTGGCTGAGTGACACCGTAGCCGTGAGC
GGCTCCCGCGACGGCACTGTGGCGCTGTGGCGGATGGACCCGGACAAGTTCGATGACACTGTTGCCTGGCATAGCGAGGTGGGTCTCCCCGTATATGCCCACATC
CGTCCGAGGGATGTGGAGGCCATCCCCAGGGCCATCATCAACCCCAGTAACCGCAAGGTGCGGGCCCTGGCCTGCGGCGGCAAGAACCAGGAACTGGGAGCGGTG
TCCTTGGACGGCTACTTCCACCTGTGGAAAGCCGGGAGCGCACTATCCAGGCTGCTGTCCATCAGGCTGCCCTACTTCCGGGATAATGTGTGCCTGACCTACTGT
GATGATATGTCTGTGTACGCCGTGGGCTCCCATTCCCACGTCTCTTTCCTGGATCTGCGCCAGGACCAGCAGAACATCCGGCCCCTGTGTTCTCGAGAGGGTGGC
ACAGGCGTGCGGTCGCTGAGCTTCTACCGCCACATCATCACTGTGGGCACCGGTCAGGGCTCCCTGCTCTTCTATGACGTCCGGGCCCAGAAATTCCTGGAGGAA
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>DCAF12L1|139170|protein
MAQQQTGSRKRKAPAVEADAESSPSQGLAAADGEGPLLLKRQRRPATYRSMAHYLKVREVGGWGPARLQGFDGELRGYAVQRLPELLTERQLELGTVNKVFASQW
LNSRQVVCGTKCNTLFVVDVESGHIARIPLLRDSEARLAQDQQGCGIHAIELNPSKTLLATGGENPNSLAIYQLPSLDPLCLGDRHGHKDWIFAVAWLSDTVAVS
GSRDGTVALWRMDPDKFDDTVAWHSEVGLPVYAHIRPRDVEAIPRAIINPSNRKVRALACGGKNQELGAVSLDGYFHLWKAGSALSRLLSIRLPYFRDNVCLTYC
DDMSVYAVGSHSHVSFLDLRQDQQNIRPLCSREGGTGVRSLSFYRHIITVGTGQGSLLFYDVRAQKFLEERASATLESSSGPARRKLRLACGRGWLNHNDFWVNY
FGGMEVFPNALYTHCYNWPEMKLFVAGGPLPAGLHGNYAGLWS
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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