Evidence Details for MTPAP
Basic Information Top
| Gene Symbol: | MTPAP ( FLJ10486,PAPD1 ) |
|---|---|
| Gene Full Name: | mitochondrial poly(A) polymerase |
| Band: | 10p11.23 |
| Quick Links | Entrez ID:55149; OMIM: NA; Uniprot ID:PAPD1_HUMAN; ENSEMBL ID: ENSG00000107951; HGNC ID: 25532 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MTPAP|55149|nucleotide
ATGGCGGTTCCCGGCGTGGGGCTCTTGACCCGTTTGAACCTGTGTGCCCGGAGAAGAACTCGAGTCCAGCGGCCTATCGTCAGGCTTTTGAGTTGCCCAGGAACT
GTGGCCAAAGACCTTAGGAGAGACGAGCAGCCTTCAGGGAGCGTGGAGACAGGCTTTGAAGACAAGATTCCCAAAAGGAGATTCTCTGAGATGCAAAATGAAAGA
CGAGAACAGGCACAGCGGACTGTTTTAATACATTGCCCAGAGAAAATCAGTGAAAACAAGTTTCTTAAATATTTATCCCAATTTGGACCTATTAATAATCATTTC
TTCTATGAAAGCTTTGGTCTCTATGCTGTCGTAGAATTTTGCCAAAAGGAAAGCATAGGTTCACTGCAGAATGGGACTCATACTCCAAGCACGGCCATGGAGACT
GCAATTCCATTCAGATCACGTTTCTTCAATCTGAAGTTGAAAAACCAGACTTCTGAACGGTCACGCGTACGGTCAAGTAATCAGTTGCCACGTTCAAACAAGCAG
CTTTTTGAATTACTTTGTTATGCAGAAAGTATAGACGATCAGCTGAACACTCTCTTGAAGGAGTTCCAGCTAACAGAGGAGAACACTAAGCTCCGATATCTCACC
TGTTCTCTTATTGAAGACATGGCCGCCGCGTATTTTCCAGACTGCATAGTCAGACCCTTTGGCTCCTCAGTCAACACTTTTGGGAAGTTAGGATGTGATTTGGAC
ATGTTTTTGGATCTAGATGAAACCAGAAACCTCAGCGCTCACAAGATCTCAGGAAATTTTCTGATGGAATTTCAAGTGAAAAATGTTCCTTCAGAAAGAATTGCA
ACTCAGAAGATCCTGTCTGTGTTAGGAGAGTGCCTTGACCACTTTGGCCCTGGCTGTGTGGGTGTGCAAAAAATATTAAATGCCCGGTGTCCGCTCGTGAGGTTC
TCACACCAGGCCTCCGGATTTCAGTGTGATTTGACTACGAACAATAGGATTGCCTTGACAAGTTCCGAACTCCTTTATATATATGGTGCCCTAGACTCAAGAGTG
AGAGCCTTGGTGTTCAGTGTACGGTGCTGGGCTCGAGCACATTCACTAACAAGTAGTATTCCTGGTGCATGGATTACAAATTTCTCCCTTACAATGATGGTCATC
Show »
ATGGCGGTTCCCGGCGTGGGGCTCTTGACCCGTTTGAACCTGTGTGCCCGGAGAAGAACTCGAGTCCAGCGGCCTATCGTCAGGCTTTTGAGTTGCCCAGGAACT
GTGGCCAAAGACCTTAGGAGAGACGAGCAGCCTTCAGGGAGCGTGGAGACAGGCTTTGAAGACAAGATTCCCAAAAGGAGATTCTCTGAGATGCAAAATGAAAGA
CGAGAACAGGCACAGCGGACTGTTTTAATACATTGCCCAGAGAAAATCAGTGAAAACAAGTTTCTTAAATATTTATCCCAATTTGGACCTATTAATAATCATTTC
TTCTATGAAAGCTTTGGTCTCTATGCTGTCGTAGAATTTTGCCAAAAGGAAAGCATAGGTTCACTGCAGAATGGGACTCATACTCCAAGCACGGCCATGGAGACT
GCAATTCCATTCAGATCACGTTTCTTCAATCTGAAGTTGAAAAACCAGACTTCTGAACGGTCACGCGTACGGTCAAGTAATCAGTTGCCACGTTCAAACAAGCAG
CTTTTTGAATTACTTTGTTATGCAGAAAGTATAGACGATCAGCTGAACACTCTCTTGAAGGAGTTCCAGCTAACAGAGGAGAACACTAAGCTCCGATATCTCACC
TGTTCTCTTATTGAAGACATGGCCGCCGCGTATTTTCCAGACTGCATAGTCAGACCCTTTGGCTCCTCAGTCAACACTTTTGGGAAGTTAGGATGTGATTTGGAC
ATGTTTTTGGATCTAGATGAAACCAGAAACCTCAGCGCTCACAAGATCTCAGGAAATTTTCTGATGGAATTTCAAGTGAAAAATGTTCCTTCAGAAAGAATTGCA
ACTCAGAAGATCCTGTCTGTGTTAGGAGAGTGCCTTGACCACTTTGGCCCTGGCTGTGTGGGTGTGCAAAAAATATTAAATGCCCGGTGTCCGCTCGTGAGGTTC
TCACACCAGGCCTCCGGATTTCAGTGTGATTTGACTACGAACAATAGGATTGCCTTGACAAGTTCCGAACTCCTTTATATATATGGTGCCCTAGACTCAAGAGTG
AGAGCCTTGGTGTTCAGTGTACGGTGCTGGGCTCGAGCACATTCACTAACAAGTAGTATTCCTGGTGCATGGATTACAAATTTCTCCCTTACAATGATGGTCATC
Show »
>MTPAP|55149|protein
MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPKRRFSEMQNERREQAQRTVLIHCPEKISENKFLKYLSQFGPINNHF
FYESFGLYAVVEFCQKESIGSLQNGTHTPSTAMETAIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELLCYAESIDDQLNTLLKEFQLTEENTKLRYLT
CSLIEDMAAAYFPDCIVRPFGSSVNTFGKLGCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCVGVQKILNARCPLVRF
SHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCWARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLKTLADAEDKCVIEGNNCT
FVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPFETSLNISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPW
Show »
MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPKRRFSEMQNERREQAQRTVLIHCPEKISENKFLKYLSQFGPINNHF
FYESFGLYAVVEFCQKESIGSLQNGTHTPSTAMETAIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELLCYAESIDDQLNTLLKEFQLTEENTKLRYLT
CSLIEDMAAAYFPDCIVRPFGSSVNTFGKLGCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCVGVQKILNARCPLVRF
SHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCWARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLKTLADAEDKCVIEGNNCT
FVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPFETSLNISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPW
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 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low 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.