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