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
Show »
ATGGAGAACTGGTCAAAAGACATAACCCACAGTTATCTTGAACAAGAAACTACGGGGATAAATAAAAGTACGCAGCCAGATGAGCAACTGACTATGAATTCTGAG
AAAAGTATGCATCGGAAATCCACTGAATTAGTTAATGAAATAACATGTGAGAACACAGAATGGCCAGGGCAGAGATCAACGAATTTTCAGATCATCAGTTCTTAT
CCAGATGATGAGTCTGTTTACTGCACTACTGAAAAATACAACGTTATGGAACATAGACATAATGATATGCATTATGAATGTATGACTCCTTGTCAAGTTACTTCA
GACTCAGATAAAGAGAAGACAATAGCATTTCTTCTAAAAGAATTGGATATTCTCAGAACAAGCAATAAAAAGCTTCAGCAGAAATTGGCTAAAGAAGATAAAGAA
CAGAGAAAACTAAAGTTTAAGCTGGAACTCCAAGAGAAAGAAACAGAAGCTAAAATTGCTGAAAAGACAGCAGCTCTGGTTGAAGAAGTGTATTTTGCGCAGAAG
GAACGTGATGAAGCTGTTATGTCTAGACTGCAATTAGCCATTGAGGAGAGAGATGAAGCAATTGCACGAGCCAAGCATATGGAAATGTCTCTAAAAGTGCTAGAA
AATATTAACCCTGAAGAAAATGACATGACATTACAGGAATTACTGAACAGAATAAACAATGCAGACACAGGGATAGCTATTCAGAAGAATGGAGCTATAATTGTG
GATAGAATCTACAAGACCAAGGAATGTAAAATGAGAATAACTGCAGAAGAAATGAGTGCACTAATAGAAGAACGGGATGCTGCCTTGTCTAAGTGCAAACGGTTA
GAGCAGGAGCTTCATCATGTGAAAGAGCAGAACCAGACTTCAGCAAACAACATGAGACATCTGACTGCTGAAAACAATCAAGAACGTGCTCTGAAGGCAAAGTTG
TTATCTATGCAACAAGCCAGAGAAACTGCAGTTCAACAGTACAAAAAACTGGAAGAGGAAATCCAGACCCTTCGAGTTTACTACAGTTTACACAAATCTTTATCT
CAAGAAGAAAATCTGAAGGATCAGTTTAACTATACCCTTAGTACATATGAAGAAGCTTTAAAAAACAGAGAGAACATTGTTTCCATCACTCAACAACAAAATGAG
Show »
>MIPOL1|145282|protein
MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQRSTNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTS
DSDKEKTIAFLLKELDILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEAVMSRLQLAIEERDEAIARAKHMEMSLKVLE
NINPEENDMTLQELLNRINNADTGIAIQKNGAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRHLTAENNQERALKAKL
LSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFNYTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ
KLERLVDVLRKKVGTGTMRTVI
Show »
MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQRSTNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTS
DSDKEKTIAFLLKELDILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEAVMSRLQLAIEERDEAIARAKHMEMSLKVLE
NINPEENDMTLQELLNRINNADTGIAIQKNGAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRHLTAENNQERALKAKL
LSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFNYTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ
KLERLVDVLRKKVGTGTMRTVI
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 (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 Top