Evidence Details for GPC3
Basic Information Top
| Gene Symbol: | GPC3 ( DGSX,GTR2-2,MXR7,OCI-5,SDYS,SGB,SGBS,SGBS1 ) |
|---|---|
| Gene Full Name: | glypican 3 |
| Band: | Xq26.2 |
| Quick Links | Entrez ID:2719; OMIM: 300037; Uniprot ID:GPC3_HUMAN; ENSEMBL ID: ENSG00000147257; HGNC ID: 4451 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GPC3|2719|nucleotide
ATGGCCGGGACCGTGCGCACCGCGTGCTTGGTGGTGGCGATGCTGCTCAGCTTGGACTTCCCGGGACAGGCGCAGCCCCCGCCGCCGCCGCCGGACGCCACCTGT
CACCAAGTCCGCTCCTTCTTCCAGAGACTGCAGCCCGGACTCAAGTGGGTGCCAGAAACTCCCGTGCCAGGATCAGATTTGCAAGTATGTCTCCCTAAGGGCCCA
ACATGCTGCTCAAGAAAGATGGAAGAAAAATACCAACTAACAGCACGATTGAACATGGAACAGCTGCTTCAGTCTGCAAGTATGGAGCTCAAGTTCTTAATTATT
CAGAATGCTGCGGTTTTCCAAGAGGCCTTTGAAATTGTTGTTCGCCATGCCAAGAACTACACCAATGCCATGTTCAAGAACAACTACCCAAGCCTGACTCCACAA
GCTTTTGAGTTTGTGGGTGAATTTTTCACAGATGTGTCTCTCTACATCTTGGGTTCTGACATCAATGTAGATGACATGGTCAATGAATTGTTTGACAGCCTGTTT
CCAGTCATCTATACCCAGCTAATGAACCCAGGCCTGCCTGATTCAGCCTTGGACATCAATGAGTGCCTCCGAGGAGCAAGACGTGACCTGAAAGTATTTGGGAAT
TTCCCCAAGCTTATTATGACCCAGGTTTCCAAGTCACTGCAAGTCACTAGGATCTTCCTTCAGGCTCTGAATCTTGGAATTGAAGTGATCAACACAACTGATCAC
CTGAAGTTCAGTAAGGACTGTGGCCGAATGCTCACCAGAATGTGGTACTGCTCTTACTGCCAGGGACTGATGATGGTTAAACCCTGTGGCGGTTACTGCAATGTG
GTCATGCAAGGCTGTATGGCAGGTGTGGTGGAGATTGACAAGTACTGGAGAGAATACATTCTGTCCCTTGAAGAACTTGTGAATGGCATGTACAGAATCTATGAC
ATGGAGAACGTACTGCTTGGTCTCTTTTCAACAATCCATGATTCTATCCAGTATGTCCAGAAGAATGCAGGAAAGCTGACCACCACTGAAACTGAGAAGAAAATA
TGGCACTTCAAATATCCTATCTTCTTCCTGTGTATAGGGCTAGACTTACAGATTGGCAAGTTATGTGCCCATTCTCAACAACGCCAATATAGATCTGCTTATTAT
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ATGGCCGGGACCGTGCGCACCGCGTGCTTGGTGGTGGCGATGCTGCTCAGCTTGGACTTCCCGGGACAGGCGCAGCCCCCGCCGCCGCCGCCGGACGCCACCTGT
CACCAAGTCCGCTCCTTCTTCCAGAGACTGCAGCCCGGACTCAAGTGGGTGCCAGAAACTCCCGTGCCAGGATCAGATTTGCAAGTATGTCTCCCTAAGGGCCCA
ACATGCTGCTCAAGAAAGATGGAAGAAAAATACCAACTAACAGCACGATTGAACATGGAACAGCTGCTTCAGTCTGCAAGTATGGAGCTCAAGTTCTTAATTATT
CAGAATGCTGCGGTTTTCCAAGAGGCCTTTGAAATTGTTGTTCGCCATGCCAAGAACTACACCAATGCCATGTTCAAGAACAACTACCCAAGCCTGACTCCACAA
GCTTTTGAGTTTGTGGGTGAATTTTTCACAGATGTGTCTCTCTACATCTTGGGTTCTGACATCAATGTAGATGACATGGTCAATGAATTGTTTGACAGCCTGTTT
CCAGTCATCTATACCCAGCTAATGAACCCAGGCCTGCCTGATTCAGCCTTGGACATCAATGAGTGCCTCCGAGGAGCAAGACGTGACCTGAAAGTATTTGGGAAT
TTCCCCAAGCTTATTATGACCCAGGTTTCCAAGTCACTGCAAGTCACTAGGATCTTCCTTCAGGCTCTGAATCTTGGAATTGAAGTGATCAACACAACTGATCAC
CTGAAGTTCAGTAAGGACTGTGGCCGAATGCTCACCAGAATGTGGTACTGCTCTTACTGCCAGGGACTGATGATGGTTAAACCCTGTGGCGGTTACTGCAATGTG
GTCATGCAAGGCTGTATGGCAGGTGTGGTGGAGATTGACAAGTACTGGAGAGAATACATTCTGTCCCTTGAAGAACTTGTGAATGGCATGTACAGAATCTATGAC
ATGGAGAACGTACTGCTTGGTCTCTTTTCAACAATCCATGATTCTATCCAGTATGTCCAGAAGAATGCAGGAAAGCTGACCACCACTGAAACTGAGAAGAAAATA
TGGCACTTCAAATATCCTATCTTCTTCCTGTGTATAGGGCTAGACTTACAGATTGGCAAGTTATGTGCCCATTCTCAACAACGCCAATATAGATCTGCTTATTAT
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>GPC3|2719|protein
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKFLII
QNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGN
FPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYD
MENVLLGLFSTIHDSIQYVQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKS
FISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDE
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MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKFLII
QNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGN
FPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYD
MENVLLGLFSTIHDSIQYVQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKS
FISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDE
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 (0) | 0 (0) | 0 (1) | 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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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