Evidence Details for HIP1
Basic Information Top
| Gene Symbol: | HIP1 ( ILWEQ,MGC126506 ) |
|---|---|
| Gene Full Name: | huntingtin interacting protein 1 |
| Band: | 7q11.23 |
| Quick Links | Entrez ID:3092; OMIM: 601767; Uniprot ID:HIP1_HUMAN; ENSEMBL ID: ENSG00000127946; HGNC ID: 4913 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HIP1|3092|nucleotide
ATGGATCGGATGGCCAGCTCCATGAAGCAGGTGCCCAACCCACTGCCCAAGGTGCTGAGCCGGCGCGGGGTCGGCGCTGGGCTGGAGGCGGCGGAGCGCGAGAGC
TTCGAGCGGACTCAGACTGTCAGCATCAATAAGGCCATTAATACGCAGGAAGTGGCTGTAAAGGAAAAACACGCCAGAACGTGCATACTGGGCACCCACCATGAG
AAAGGGGCACAGACCTTCTGGTCTGTTGTCAACCGCCTGCCTCTGTCTAGCAACGCAGTGCTCTGCTGGAAGTTCTGCCATGTGTTCCACAAACTCCTCCGAGAT
GGACACCCGAACGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGC
ATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAAATCCCAGGTTCCCAGGCAACCTGCAGATGAGTGACCGCCAGCTGGACGAGGCTGGAGAA
AGTGACGTGAACAACTTTTTCCAGTTAACAGTGGAGATGTTTGACTACCTGGAGTGTGAACTCAACCTCTTCCAAACAGTATTCAACTCCCTGGACATGTCCCGC
TCTGTGTCCGTGACGGCAGCAGGGCAGTGCCGCCTCGCCCCGCTGATCCAGGTCATCTTGGACTGCAGCCACCTTTATGACTACACTGTCAAGCTTCTCTTCAAA
CTCCACTCCTGCCTCCCAGCTGACACCCTGCAAGGCCACCGGGACCGCTTCATGGAGCAGTTTACAAAGTTGAAAGATCTGTTCTACCGCTCCAGCAACCTGCAG
TACTTCAAGCGGCTCATTCAGATCCCCCAGCTGCCTGAGAACCCACCCAACTTCCTGCGAGCCTCAGCCCTGTCAGAACATATCAGCCCTGTGGTGGTGATCCCT
GCAGAGGCCTCATCCCCCGACAGCGAGCCAGTCCTAGAGAAGGATGACCTCATGGACATGGATGCCTCTCAGCAGAATTTATTTGACAACAAGTTTGATGACATC
TTTGGCAGTTCATTCAGCAGTGATCCCTTCAATTTCAACAGTCAAAATGGTGTGAACAAGGATGAGAAGGACCACTTAATTGAGCGACTATACAGAGAGATCAGT
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ATGGATCGGATGGCCAGCTCCATGAAGCAGGTGCCCAACCCACTGCCCAAGGTGCTGAGCCGGCGCGGGGTCGGCGCTGGGCTGGAGGCGGCGGAGCGCGAGAGC
TTCGAGCGGACTCAGACTGTCAGCATCAATAAGGCCATTAATACGCAGGAAGTGGCTGTAAAGGAAAAACACGCCAGAACGTGCATACTGGGCACCCACCATGAG
AAAGGGGCACAGACCTTCTGGTCTGTTGTCAACCGCCTGCCTCTGTCTAGCAACGCAGTGCTCTGCTGGAAGTTCTGCCATGTGTTCCACAAACTCCTCCGAGAT
GGACACCCGAACGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGC
ATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAAATCCCAGGTTCCCAGGCAACCTGCAGATGAGTGACCGCCAGCTGGACGAGGCTGGAGAA
AGTGACGTGAACAACTTTTTCCAGTTAACAGTGGAGATGTTTGACTACCTGGAGTGTGAACTCAACCTCTTCCAAACAGTATTCAACTCCCTGGACATGTCCCGC
TCTGTGTCCGTGACGGCAGCAGGGCAGTGCCGCCTCGCCCCGCTGATCCAGGTCATCTTGGACTGCAGCCACCTTTATGACTACACTGTCAAGCTTCTCTTCAAA
CTCCACTCCTGCCTCCCAGCTGACACCCTGCAAGGCCACCGGGACCGCTTCATGGAGCAGTTTACAAAGTTGAAAGATCTGTTCTACCGCTCCAGCAACCTGCAG
TACTTCAAGCGGCTCATTCAGATCCCCCAGCTGCCTGAGAACCCACCCAACTTCCTGCGAGCCTCAGCCCTGTCAGAACATATCAGCCCTGTGGTGGTGATCCCT
GCAGAGGCCTCATCCCCCGACAGCGAGCCAGTCCTAGAGAAGGATGACCTCATGGACATGGATGCCTCTCAGCAGAATTTATTTGACAACAAGTTTGATGACATC
TTTGGCAGTTCATTCAGCAGTGATCCCTTCAATTTCAACAGTCAAAATGGTGTGAACAAGGATGAGAAGGACCACTTAATTGAGCGACTATACAGAGAGATCAGT
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>HIP1|3092|protein
MDRMASSMKQVPNPLPKVLSRRGVGAGLEAAERESFERTQTVSINKAINTQEVAVKEKHARTCILGTHHEKGAQTFWSVVNRLPLSSNAVLCWKFCHVFHKLLRD
GHPNVLKDSLRYRNELSDMSRMWGHLSEGYGQLCSIYLKLLRTKMEYHTKNPRFPGNLQMSDRQLDEAGESDVNNFFQLTVEMFDYLECELNLFQTVFNSLDMSR
SVSVTAAGQCRLAPLIQVILDCSHLYDYTVKLLFKLHSCLPADTLQGHRDRFMEQFTKLKDLFYRSSNLQYFKRLIQIPQLPENPPNFLRASALSEHISPVVVIP
AEASSPDSEPVLEKDDLMDMDASQQNLFDNKFDDIFGSSFSSDPFNFNSQNGVNKDEKDHLIERLYREISGLKAQLENMKTESQRVVLQLKGHVSELEADLAEQQ
HLRQQAADDCEFLRAELDELRRQREDTEKAQRSLSEIERKAQANEQRYSKLKEKYSELVQNHADLLRKNAEVTKQVSMARQAQVDLEREKKELEDSLERISDQGQ
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MDRMASSMKQVPNPLPKVLSRRGVGAGLEAAERESFERTQTVSINKAINTQEVAVKEKHARTCILGTHHEKGAQTFWSVVNRLPLSSNAVLCWKFCHVFHKLLRD
GHPNVLKDSLRYRNELSDMSRMWGHLSEGYGQLCSIYLKLLRTKMEYHTKNPRFPGNLQMSDRQLDEAGESDVNNFFQLTVEMFDYLECELNLFQTVFNSLDMSR
SVSVTAAGQCRLAPLIQVILDCSHLYDYTVKLLFKLHSCLPADTLQGHRDRFMEQFTKLKDLFYRSSNLQYFKRLIQIPQLPENPPNFLRASALSEHISPVVVIP
AEASSPDSEPVLEKDDLMDMDASQQNLFDNKFDDIFGSSFSSDPFNFNSQNGVNKDEKDHLIERLYREISGLKAQLENMKTESQRVVLQLKGHVSELEADLAEQQ
HLRQQAADDCEFLRAELDELRRQREDTEKAQRSLSEIERKAQANEQRYSKLKEKYSELVQNHADLLRKNAEVTKQVSMARQAQVDLEREKKELEDSLERISDQGQ
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (3) |
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH | | | ASD | - | - | - | - | 29 | - | 29 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.