AutismKB 2.0

Evidence Details for GLI3


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Basic Information Top
Gene Symbol:GLI3 ( ACLS,GCPS,PAP-A,PAPA,PAPA1,PAPB,PHS,PPDIV )
Gene Full Name: GLI family zinc finger 3
Band: 7p14.1
Quick LinksEntrez ID:2737; OMIM: 165240; Uniprot ID:GLI3_HUMAN; ENSEMBL ID: ENSG00000106571; HGNC ID: 4319
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GLI3|2737|nucleotide
ATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCC
TCCAGCACCACTTCTAATGAGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATGCAGCCACAGAATGTCCAGGGGCTCAGCAAA
GTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGGCCTCATTGATCAAGAAAGAGATCCATGGGTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGC
GGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCCCACTACCACCCTCCTCATCTTTTCCCTGCCTTCCATCCTCCTGTACCAATTGATGCCAGA
CATCATGAGGGCCGTTACCATTACGATCCATCTCCGATTCCTCCATTGCATATGACTTCCGCCTTATCTAGTAGCCCTACGTATCCGGACCTGCCCTTCATTAGG
ATCTCCCCACACCGGAACCCCACTGCTGCTTCCGAGTCTCCCTTCAGCCCTCCACATCCCTACATTAATCCCTACATGGACTATATCCGCTCCTTGCACAGCAGC
CCATCGCTCTCCATGATCTCAGCAACCCGTGGGCTGAGCCCTACAGATGCGCCCCATGCAGGAGTCAGCCCAGCAGAATACTATCATCAGATGGCCCTGCTAACT
GGCCAGCGCAGCCCCTATGCAGACATTATTCCCTCAGCTGCCACCGCCGGCACGGGGGCCATCCACATGGAATATCTTCATGCTATGGATAGCACCAGATTCTCC
AGCCCCAGGCTGTCAGCCAGGCCGAGCCGAAAACGTACACTGTCCATATCACCACTCTCCGATCATAGCTTTGACCTTCAGACCATGATAAGGACGTCTCCCAAC
TCCTTGGTCACGATTCTCAATAATTCCCGTAGCAGCTCTTCAGCAAGTGGCTCCTATGGTCACTTATCTGCAAGTGCAATCAGCCCTGCCTTGAGCTTCACCTAC
TCTTCCGCGCCCGTCTCTCTCCACATGCATCAGCAGATCCTAAGCCGACAACAGAGCTTAGGTTCAGCCTTTGGACACAGCCCTCCACTCATCCACCCTGCCCCA
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>GLI3|2737|protein
MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYR
GTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSS
PSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPN
SLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSE
SAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQK
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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 (1) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 14 (4)
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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top