Evidence Details for GLIPR1
Basic Information Top
| Gene Symbol: | GLIPR1 ( CRISP7,GLIPR,RTVP1 ) |
|---|---|
| Gene Full Name: | GLI pathogenesis-related 1 |
| Band: | 12q21.2 |
| Quick Links | Entrez ID:11010; OMIM: 602692; Uniprot ID:GLIP1_HUMAN; ENSEMBL ID: ENSG00000139278; HGNC ID: 17001 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GLIPR1|11010|nucleotide
ATGCGTGTCACACTTGCTACAATAGCCTGGATGGTTTCTTTTGTCTCCAATTATTCACACACAGCAAATATTTTGCCAGATATCGAAAATGAAGATTTCATCAAA
GACTGCGTTCGAATCCATAACAAGTTCCGATCAGAGGTGAAACCAACAGCCAGTGATATGCTATACATGACTTGGGACCCAGCACTAGCCCAAATTGCAAAAGCA
TGGGCCAGCAATTGCCAGTTTTCACATAATACACGGCTGAAGCCACCCCACAAGCTGCACCCAAACTTCACTTCACTGGGAGAGAACATCTGGACTGGGTCTGTG
CCCATTTTTTCTGTGTCTTCCGCCATCACAAACTGGTATGACGAAATCCAGGACTATGACTTCAAGACTCGGATATGCAAAAAAGTCTGTGGCCACTACACTCAG
GTTGTTTGGGCAGATAGTTACAAAGTTGGCTGCGCAGTTCAATTTTGCCCTAAAGTTTCTGGCTTTGACGCTCTTTCCAATGGAGCACATTTTATATGCAACTAC
GGACCAGGAGGGAATTACCCAACTTGGCCATATAAGAGAGGAGCCACCTGCAGTGCCTGCCCCAATAATGACAAGTGTTTGGACAATCTCTGTGTTAACCGACAG
CGAGACCAAGTCAAACGTTACTACTCTGTTGTATATCCAGGCTGGCCCATATATCCACGTAACAGATACACTTCTCTCTTTCTCATTGTTAATTCAGTAATTCTA
ATACTGTCTGTTATAATTACCATTTTGGTACAGCACAAGTACCCTAATTTAGTTCTTTTGGACTAA
Show »
ATGCGTGTCACACTTGCTACAATAGCCTGGATGGTTTCTTTTGTCTCCAATTATTCACACACAGCAAATATTTTGCCAGATATCGAAAATGAAGATTTCATCAAA
GACTGCGTTCGAATCCATAACAAGTTCCGATCAGAGGTGAAACCAACAGCCAGTGATATGCTATACATGACTTGGGACCCAGCACTAGCCCAAATTGCAAAAGCA
TGGGCCAGCAATTGCCAGTTTTCACATAATACACGGCTGAAGCCACCCCACAAGCTGCACCCAAACTTCACTTCACTGGGAGAGAACATCTGGACTGGGTCTGTG
CCCATTTTTTCTGTGTCTTCCGCCATCACAAACTGGTATGACGAAATCCAGGACTATGACTTCAAGACTCGGATATGCAAAAAAGTCTGTGGCCACTACACTCAG
GTTGTTTGGGCAGATAGTTACAAAGTTGGCTGCGCAGTTCAATTTTGCCCTAAAGTTTCTGGCTTTGACGCTCTTTCCAATGGAGCACATTTTATATGCAACTAC
GGACCAGGAGGGAATTACCCAACTTGGCCATATAAGAGAGGAGCCACCTGCAGTGCCTGCCCCAATAATGACAAGTGTTTGGACAATCTCTGTGTTAACCGACAG
CGAGACCAAGTCAAACGTTACTACTCTGTTGTATATCCAGGCTGGCCCATATATCCACGTAACAGATACACTTCTCTCTTTCTCATTGTTAATTCAGTAATTCTA
ATACTGTCTGTTATAATTACCATTTTGGTACAGCACAAGTACCCTAATTTAGTTCTTTTGGACTAA
Show »
>GLIPR1|11010|protein
MRVTLATIAWMVSFVSNYSHTANILPDIENEDFIKDCVRIHNKFRSEVKPTASDMLYMTWDPALAQIAKAWASNCQFSHNTRLKPPHKLHPNFTSLGENIWTGSV
PIFSVSSAITNWYDEIQDYDFKTRICKKVCGHYTQVVWADSYKVGCAVQFCPKVSGFDALSNGAHFICNYGPGGNYPTWPYKRGATCSACPNNDKCLDNLCVNRQ
RDQVKRYYSVVYPGWPIYPRNRYTSLFLIVNSVILILSVIITILVQHKYPNLVLLD
Show »
MRVTLATIAWMVSFVSNYSHTANILPDIENEDFIKDCVRIHNKFRSEVKPTASDMLYMTWDPALAQIAKAWASNCQFSHNTRLKPPHKLHPNFTSLGENIWTGSV
PIFSVSSAITNWYDEIQDYDFKTRICKKVCGHYTQVVWADSYKVGCAVQFCPKVSGFDALSNGAHFICNYGPGGNYPTWPYKRGATCSACPNNDKCLDNLCVNRQ
RDQVKRYYSVVYPGWPIYPRNRYTSLFLIVNSVILILSVIITILVQHKYPNLVLLD
Show »
Evidence summary TopClick 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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top