AutismKB 2.0

Evidence Details for DLC1


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Basic Information Top
Gene Symbol:DLC1 ( ARHGAP7,FLJ21120,HP,STARD12,p122-RhoGAP )
Gene Full Name: deleted in liver cancer 1
Band: 8p22
Quick LinksEntrez ID:10395; OMIM: 604258; Uniprot ID:RHG07_HUMAN; ENSEMBL ID: ENSG00000164741; HGNC ID: 2897
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLC1|10395|nucleotide
ATGAAGCTAGAAATTAGTCCTCATCGGAAACGAAGTGACGATTCAGACGAGGATGAGCCTTGTGCCATCAGTGGCAAATGGACTTTCCAAAGGGACAGCAAGAGG
TGGTCCCGGCTTGAAGAGTTTGATGTCTTTTCTCCAAAACAAGACCTGGTCCCTGGGTCCCCAGACGACTCCCACCCGAAGGACGGCCCCAGCCCCGGAGGCACG
CTGATGGACCTCAGCGAGCGCCAGGAGGTGTCTTCCGTCCGCAGCCTCAGCAGCACTGGCAGCCTCCCCAGCCACGCGCCCCCCAGCGAGGATGCTGCCACCCCC
CGGACTAACTCCGTCATCAGCGTTTGCTCCTCCAGCAACTTGGCAGGCAATGACGACTCTTTCGGCAGCCTGCCCTCTCCCAAGGAACTGTCCAGCTTCAGCTTC
AGCATGAAAGGCCACGAAAAAACTGCCAAGTCCAAGACGCGCAGTCTGCTGAAACGGATGGAGAGCCTGAAGCTCAAGAGCTCCCATCACAGCAAGCACAAAGCG
CCCTCAAAGCTGGGGTTGATCATCAGCGGGCCCATCTTGCAAGAGGGGATGGATGAGGAGAAGCTGAAGCAGCTCAACTGCGTGGAGATCTCCGCCCTCAATGGC
AACCGCATCAACGTCCCCATGGTACGAAAGAGGAGCGTTTCCAACTCCACGCAGACCAGCAGCAGCAGCAGCCAGTCGGAGACCAGCAGCGCGGTCAGCACGCCC
AGCCCTGTTACGAGGACCCGGAGCCTCAGTGCGTGCAACAAGCGGGTGGGCATGTACTTAGAGGGCTTCGATCCTTTCAATCAGTCAACATTTAACAACGTGGTG
GAGCAGAACTTTAAGAACCGCGAGAGCTACCCAGAGGACACGGTGTTCTACATCCCTGAAGATCACAAGCCTGGCACTTTCCCCAAAGCTCTCACCAATGGCAGT
TTCTCCCCCTCGGGGAATAACGGCTCTGTGAACTGGAGGACGGGAAGCTTCCACGGCCCTGGCCACATCAGCCTCAGGAGGGAAAACAGTAGCGACAGCCCCAAG
GAACTGAAGAGACGCAATTCTTCCAGCTCCATGAGCAGCCGCCTGAGCATCTACGACAACGTGCCGGGCTCCATCCTCTACTCCAGTTCAGGGGACCTGGCGGAT
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>DLC1|10395|protein
MKLEISPHRKRSDDSDEDEPCAISGKWTFQRDSKRWSRLEEFDVFSPKQDLVPGSPDDSHPKDGPSPGGTLMDLSERQEVSSVRSLSSTGSLPSHAPPSEDAATP
RTNSVISVCSSSNLAGNDDSFGSLPSPKELSSFSFSMKGHEKTAKSKTRSLLKRMESLKLKSSHHSKHKAPSKLGLIISGPILQEGMDEEKLKQLNCVEISALNG
NRINVPMVRKRSVSNSTQTSSSSSQSETSSAVSTPSPVTRTRSLSACNKRVGMYLEGFDPFNQSTFNNVVEQNFKNRESYPEDTVFYIPEDHKPGTFPKALTNGS
FSPSGNNGSVNWRTGSFHGPGHISLRRENSSDSPKELKRRNSSSSMSSRLSIYDNVPGSILYSSSGDLADLENEDIFPELDDILYHVKGMQRIVNQWSEKFSDEG
DSDSALDSVSPCPSSPKQIHLDVDNDRTTPSDLDSTGNSLNEPEEPSEIPERRDSGVGASLTRSNRHRLRWHSFQSSHRPSLNSVSLQINCQSVAQMNLLQKYSL
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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 (4) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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