Evidence Details for MIPOL1
Basic Information Top
| Gene Symbol: | MIPOL1 ( DKFZp313M2036,MGC34010 ) |
|---|---|
| Gene Full Name: | mirror-image polydactyly 1 |
| Band: | 14q13.3-q21.1 |
| Quick Links | Entrez ID:145282; OMIM: 606850; Uniprot ID:MIPO1_HUMAN; ENSEMBL ID: ENSG00000151338; HGNC ID: 21460 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MIPOL1|145282|nucleotide
ATGGAGAACTGGTCAAAAGACATAACCCACAGTTATCTTGAACAAGAAACTACGGGGATAAATAAAAGTACGCAGCCAGATGAGCAACTGACTATGAATTCTGAG
AAAAGTATGCATCGGAAATCCACTGAATTAGTTAATGAAATAACATGTGAGAACACAGAATGGCCAGGGCAGAGATCAACGAATTTTCAGATCATCAGTTCTTAT
CCAGATGATGAGTCTGTTTACTGCACTACTGAAAAATACAACGTTATGGAACATAGACATAATGATATGCATTATGAATGTATGACTCCTTGTCAAGTTACTTCA
GACTCAGATAAAGAGAAGACAATAGCATTTCTTCTAAAAGAATTGGATATTCTCAGAACAAGCAATAAAAAGCTTCAGCAGAAATTGGCTAAAGAAGATAAAGAA
CAGAGAAAACTAAAGTTTAAGCTGGAACTCCAAGAGAAAGAAACAGAAGCTAAAATTGCTGAAAAGACAGCAGCTCTGGTTGAAGAAGTGTATTTTGCGCAGAAG
GAACGTGATGAAGCTGTTATGTCTAGACTGCAATTAGCCATTGAGGAGAGAGATGAAGCAATTGCACGAGCCAAGCATATGGAAATGTCTCTAAAAGTGCTAGAA
AATATTAACCCTGAAGAAAATGACATGACATTACAGGAATTACTGAACAGAATAAACAATGCAGACACAGGGATAGCTATTCAGAAGAATGGAGCTATAATTGTG
GATAGAATCTACAAGACCAAGGAATGTAAAATGAGAATAACTGCAGAAGAAATGAGTGCACTAATAGAAGAACGGGATGCTGCCTTGTCTAAGTGCAAACGGTTA
GAGCAGGAGCTTCATCATGTGAAAGAGCAGAACCAGACTTCAGCAAACAACATGAGACATCTGACTGCTGAAAACAATCAAGAACGTGCTCTGAAGGCAAAGTTG
TTATCTATGCAACAAGCCAGAGAAACTGCAGTTCAACAGTACAAAAAACTGGAAGAGGAAATCCAGACCCTTCGAGTTTACTACAGTTTACACAAATCTTTATCT
CAAGAAGAAAATCTGAAGGATCAGTTTAACTATACCCTTAGTACATATGAAGAAGCTTTAAAAAACAGAGAGAACATTGTTTCCATCACTCAACAACAAAATGAG
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ATGGAGAACTGGTCAAAAGACATAACCCACAGTTATCTTGAACAAGAAACTACGGGGATAAATAAAAGTACGCAGCCAGATGAGCAACTGACTATGAATTCTGAG
AAAAGTATGCATCGGAAATCCACTGAATTAGTTAATGAAATAACATGTGAGAACACAGAATGGCCAGGGCAGAGATCAACGAATTTTCAGATCATCAGTTCTTAT
CCAGATGATGAGTCTGTTTACTGCACTACTGAAAAATACAACGTTATGGAACATAGACATAATGATATGCATTATGAATGTATGACTCCTTGTCAAGTTACTTCA
GACTCAGATAAAGAGAAGACAATAGCATTTCTTCTAAAAGAATTGGATATTCTCAGAACAAGCAATAAAAAGCTTCAGCAGAAATTGGCTAAAGAAGATAAAGAA
CAGAGAAAACTAAAGTTTAAGCTGGAACTCCAAGAGAAAGAAACAGAAGCTAAAATTGCTGAAAAGACAGCAGCTCTGGTTGAAGAAGTGTATTTTGCGCAGAAG
GAACGTGATGAAGCTGTTATGTCTAGACTGCAATTAGCCATTGAGGAGAGAGATGAAGCAATTGCACGAGCCAAGCATATGGAAATGTCTCTAAAAGTGCTAGAA
AATATTAACCCTGAAGAAAATGACATGACATTACAGGAATTACTGAACAGAATAAACAATGCAGACACAGGGATAGCTATTCAGAAGAATGGAGCTATAATTGTG
GATAGAATCTACAAGACCAAGGAATGTAAAATGAGAATAACTGCAGAAGAAATGAGTGCACTAATAGAAGAACGGGATGCTGCCTTGTCTAAGTGCAAACGGTTA
GAGCAGGAGCTTCATCATGTGAAAGAGCAGAACCAGACTTCAGCAAACAACATGAGACATCTGACTGCTGAAAACAATCAAGAACGTGCTCTGAAGGCAAAGTTG
TTATCTATGCAACAAGCCAGAGAAACTGCAGTTCAACAGTACAAAAAACTGGAAGAGGAAATCCAGACCCTTCGAGTTTACTACAGTTTACACAAATCTTTATCT
CAAGAAGAAAATCTGAAGGATCAGTTTAACTATACCCTTAGTACATATGAAGAAGCTTTAAAAAACAGAGAGAACATTGTTTCCATCACTCAACAACAAAATGAG
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>MIPOL1|145282|protein
MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQRSTNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTS
DSDKEKTIAFLLKELDILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEAVMSRLQLAIEERDEAIARAKHMEMSLKVLE
NINPEENDMTLQELLNRINNADTGIAIQKNGAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRHLTAENNQERALKAKL
LSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFNYTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ
KLERLVDVLRKKVGTGTMRTVI
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MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQRSTNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTS
DSDKEKTIAFLLKELDILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEAVMSRLQLAIEERDEAIARAKHMEMSLKVLE
NINPEENDMTLQELLNRINNADTGIAIQKNGAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRHLTAENNQERALKAKL
LSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFNYTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ
KLERLVDVLRKKVGTGTMRTVI
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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) | 0 (0) | 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) |
||||||
| ASIAN | |||||||||||
| Cho, 2011_1 | - | FUJIFLM DNA Whole Blood Kit S and QuickGene 810 | 42 | 42 (-) |  | | ASD | 77.7±22.6 months (49-149) months |
46.2±12.2 (31-65) | ||
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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS 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.