Evidence Details for IMPG1
Basic Information Top
| Gene Symbol: | IMPG1 ( GP147,IPM150,SPACR ) |
|---|---|
| Gene Full Name: | interphotoreceptor matrix proteoglycan 1 |
| Band: | 6q14.1 |
| Quick Links | Entrez ID:3617; OMIM: 602870; Uniprot ID:IMPG1_HUMAN; ENSEMBL ID: ENSG00000112706; HGNC ID: 6055 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>IMPG1|3617|nucleotide
ATGTATTTGGAAACTAGAAGAGCTATTTTTGTTTTTTGGATTTTTCTCCAAGTTCAAGGAACCAAAGATATCTCCATTAACATATACCATTCTGAAACTAAAGAC
ATAGACAATCCCCCAAGAAATGAAACAACTGAAAGTACTGAAAAAATGTACAAAATGTCAACTATGAGACGAATATTCGATTTGGCAAAGCATCGAACAAAAAGA
TCCGCATTTTTCCCAACGGGGGTTAAAGTCTGTCCACAGGAATCCATGAAACAGATTTTAGACAGTCTTCAAGCTTATTATAGATTGAGAGTGTGTCAGGAAGCA
GTATGGGAAGCATATCGGATCTTTCTGGATCGCATCCCTGACACAGGGGAATATCAGGACTGGGTCAGCATCTGCCAGCAGGAGACCTTCTGCCTCTTTGACATT
GGAAAAAACTTCAGCAATTCCCAGGAGCACCTGGATCTTCTCCAGCAGAGAATAAAACAGAGAAGTTTCCCTGACAGAAAAGATGAAATATCTGCAGAGAAGACA
TTGGGAGAGCCTGGTGAAACCATTGTCATTTCAACAGATGTTGCCAACGTCTCACTTGGGCCTTTCCCTCTCACTCCTGATGACACCCTCCTCAATGAAATTCTC
GATAATACACTCAACGACACCAAGATGCCTACAACAGAAAGAGAAACAGAATTCGCTGTGTTGGAGGAGCAGAGGGTGGAGCTCAGCGTCTCTCTGGTAAACCAG
AAGTTCAAGGCAGAGCTCGCTGACTCCCAGTCCCCATATTACCAGGAGCTAGCAGGAAAGTCCCAACTTCAGATGCAAAAGATATTTAAGAAACTTCCAGGATTC
AAAAAAATCCATGTGTTAGGATTTAGACCAAAGAAAGAAAAAGATGGCTCAAGCTCCACAGAGATGCAACTTACGGCCATCTTTAAGAGACACAGTGCAGAAGCA
AAAAGCCCTGCAAGTGACCTCCTGTCTTTTGATTCCAACAAAATTGAAAGTGAGGAAGTCTATCATGGAACCATGGAGGAGGACAAGCAACCAGAAATCTATCTC
ACAGCTACAGACCTCAAAAGGCTGATCAGCAAAGCACTAGAGGAAGAACAATCTTTGGATGTGGGGACAATTCAGTTCACTGATGAAATTGCTGGATCACTGCCA
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ATGTATTTGGAAACTAGAAGAGCTATTTTTGTTTTTTGGATTTTTCTCCAAGTTCAAGGAACCAAAGATATCTCCATTAACATATACCATTCTGAAACTAAAGAC
ATAGACAATCCCCCAAGAAATGAAACAACTGAAAGTACTGAAAAAATGTACAAAATGTCAACTATGAGACGAATATTCGATTTGGCAAAGCATCGAACAAAAAGA
TCCGCATTTTTCCCAACGGGGGTTAAAGTCTGTCCACAGGAATCCATGAAACAGATTTTAGACAGTCTTCAAGCTTATTATAGATTGAGAGTGTGTCAGGAAGCA
GTATGGGAAGCATATCGGATCTTTCTGGATCGCATCCCTGACACAGGGGAATATCAGGACTGGGTCAGCATCTGCCAGCAGGAGACCTTCTGCCTCTTTGACATT
GGAAAAAACTTCAGCAATTCCCAGGAGCACCTGGATCTTCTCCAGCAGAGAATAAAACAGAGAAGTTTCCCTGACAGAAAAGATGAAATATCTGCAGAGAAGACA
TTGGGAGAGCCTGGTGAAACCATTGTCATTTCAACAGATGTTGCCAACGTCTCACTTGGGCCTTTCCCTCTCACTCCTGATGACACCCTCCTCAATGAAATTCTC
GATAATACACTCAACGACACCAAGATGCCTACAACAGAAAGAGAAACAGAATTCGCTGTGTTGGAGGAGCAGAGGGTGGAGCTCAGCGTCTCTCTGGTAAACCAG
AAGTTCAAGGCAGAGCTCGCTGACTCCCAGTCCCCATATTACCAGGAGCTAGCAGGAAAGTCCCAACTTCAGATGCAAAAGATATTTAAGAAACTTCCAGGATTC
AAAAAAATCCATGTGTTAGGATTTAGACCAAAGAAAGAAAAAGATGGCTCAAGCTCCACAGAGATGCAACTTACGGCCATCTTTAAGAGACACAGTGCAGAAGCA
AAAAGCCCTGCAAGTGACCTCCTGTCTTTTGATTCCAACAAAATTGAAAGTGAGGAAGTCTATCATGGAACCATGGAGGAGGACAAGCAACCAGAAATCTATCTC
ACAGCTACAGACCTCAAAAGGCTGATCAGCAAAGCACTAGAGGAAGAACAATCTTTGGATGTGGGGACAATTCAGTTCACTGATGAAATTGCTGGATCACTGCCA
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>IMPG1|3617|protein
MYLETRRAIFVFWIFLQVQGTKDISINIYHSETKDIDNPPRNETTESTEKMYKMSTMRRIFDLAKHRTKRSAFFPTGVKVCPQESMKQILDSLQAYYRLRVCQEA
VWEAYRIFLDRIPDTGEYQDWVSICQQETFCLFDIGKNFSNSQEHLDLLQQRIKQRSFPDRKDEISAEKTLGEPGETIVISTDVANVSLGPFPLTPDDTLLNEIL
DNTLNDTKMPTTERETEFAVLEEQRVELSVSLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGFKKIHVLGFRPKKEKDGSSSTEMQLTAIFKRHSAEA
KSPASDLLSFDSNKIESEEVYHGTMEEDKQPEIYLTATDLKRLISKALEEEQSLDVGTIQFTDEIAGSLPAFGPDTQSELPTSFAVITEDATLSPELPPVEPQLE
TVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQTMLVPGLTIPTSDYSAISQLALGISHPPASSDDSRSSAGGEDMVRHLDEMDLS
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MYLETRRAIFVFWIFLQVQGTKDISINIYHSETKDIDNPPRNETTESTEKMYKMSTMRRIFDLAKHRTKRSAFFPTGVKVCPQESMKQILDSLQAYYRLRVCQEA
VWEAYRIFLDRIPDTGEYQDWVSICQQETFCLFDIGKNFSNSQEHLDLLQQRIKQRSFPDRKDEISAEKTLGEPGETIVISTDVANVSLGPFPLTPDDTLLNEIL
DNTLNDTKMPTTERETEFAVLEEQRVELSVSLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGFKKIHVLGFRPKKEKDGSSSTEMQLTAIFKRHSAEA
KSPASDLLSFDSNKIESEEVYHGTMEEDKQPEIYLTATDLKRLISKALEEEQSLDVGTIQFTDEIAGSLPAFGPDTQSELPTSFAVITEDATLSPELPPVEPQLE
TVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQTMLVPGLTIPTSDYSAISQLALGISHPPASSDDSRSSAGGEDMVRHLDEMDLS
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top