AutismKB 2.0

Evidence Details for GFAP


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Basic Information Top
Gene Symbol:GFAP ( FLJ45472 )
Gene Full Name: glial fibrillary acidic protein
Band: 17q21.31
Quick LinksEntrez ID:2670; OMIM: 137780; Uniprot ID:GFAP_HUMAN; ENSEMBL ID: ENSG00000131095; HGNC ID: 4235
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GFAP|2670|nucleotide
ATGGAGAGGAGACGCATCACCTCCGCTGCTCGCCGCTCCTACGTCTCCTCAGGGGAGATGATGGTGGGGGGCCTGGCTCCTGGCCGCCGTCTGGGTCCTGGCACC
CGCCTCTCCCTGGCTCGAATGCCCCCTCCACTCCCGACCCGGGTGGATTTCTCCCTGGCTGGGGCACTCAATGCTGGCTTCAAGGAGACCCGGGCCAGTGAGCGG
GCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGCAAAACAAGGCGCTGGCTGCTGAGCTGAACCAGCTGCGG
GCCAAGGAGCCCACCAAGCTGGCAGACGTCTACCAGGCTGAGCTGCGAGAGCTGCGGCTGCGGCTCGATCAACTCACCGCCAACAGCGCCCGGCTGGAGGTTGAG
AGGGACAATCTGGCACAGGACCTGGCCACTGTGAGGCAGAAGCTCCAGGATGAAACCAACCTGAGGCTGGAAGCCGAGAACAACCTGGCTGCCTATAGACAGGAA
GCAGATGAAGCCACCCTGGCCCGTCTGGATCTGGAGAGGAAGATTGAGTCGCTGGAGGAGGAGATCCGGTTCTTGAGGAAGATCCACGAGGAGGAGGTTCGGGAA
CTCCAGGAGCAGCTGGCCCGACAGCAGGTCCATGTGGAGCTTGACGTGGCCAAGCCAGACCTCACCGCAGCCCTGAAAGAGATCCGCACGCAGTATGAGGCAATG
GCGTCCAGCAACATGCATGAAGCCGAAGAGTGGTACCGCTCCAAGTTTGCAGACCTGACAGACGCTGCTGCCCGCAACGCGGAGCTGCTCCGCCAGGCCAAGCAC
GAAGCCAACGACTACCGGCGCCAGTTGCAGTCCTTGACCTGCGACCTGGAGTCTCTGCGCGGCACGAACGAGTCCCTGGAGAGGCAGATGCGCGAGCAGGAGGAG
CGGCACGTGCGGGAGGCGGCCAGTTATCAGGAGGCGCTGGCGCGGCTGGAGGAAGAGGGGCAGAGCCTCAAGGACGAGATGGCCCGCCACTTGCAGGAGTACCAG
GACCTGCTCAATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACCGGATCACCATTCCCGTGCAGACCTTCTCC
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>GFAP|2670|protein
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELNQLR
AKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETNLRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRE
LQEQLARQQVHVELDVAKPDLTAALKEIRTQYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEE
RHVREAASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRGGKSTKDGENHKVTRYLKSLTIRVIPIQAH
QIVNGTPPARG
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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) 0 (0) 0 (0) 3 (3) 0 (0) 0 (1) 0 (0) 0 (0) 5 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top