Evidence Details for PTAR1
Basic Information Top
| Gene Symbol: | PTAR1 ( FLJ45604 ) |
|---|---|
| Gene Full Name: | protein prenyltransferase alpha subunit repeat containing 1 |
| Band: | 9q21.12 |
| Quick Links | Entrez ID:375743; OMIM: NA; Uniprot ID:PTAR1_HUMAN; ENSEMBL ID: ENSG00000188647; HGNC ID: 30449 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PTAR1|375743|nucleotide
ATGGCCGAGACCAGCGAGGAGGTGGCGGTGCTGGTGCAGCGGGTTGTGAAGGACATCACTAACGCCTTCAGGAGGAACCCACACATAGATGAAATTGGCCTGATC
CCATGTCCTGAAGCTAGGTATAACCGGAGTCCCATAGTCCTGGTTGAAAACAAACTGGGTGTGGAGAGCTGGTGTGTCAAGTTCCTTTTACCATATGTCCACAAC
AAGCTCCTTTTGTACAGAACAAGAAAGCAATGGCTGAACAGAGATGAATTGATAGATGTCACATGTACCCTGCTGCTTCTAAACCCAGACTTTACCACTGCATGG
AACGTGAGGAAAGAGCTGATCCTCTCTGGCACTTTAAATCCAATTAAGGATTTACATCTGGGAAAACTCGCCTTAACCAAGTTTCCAAAGAGTCCAGAAACATGG
ATTCACAGGCGATGGGTGCTACAACAGCTAATTCAGGAAACCTCCTTGCCTTCCTTTGTGACCAAAGGAAACTTGGGAACAATTCCCACAGAAAGGGCACAGCGA
CTCATACAAGAAGAGATGGAGGTCTGTGGTGAAGCAGCAGGGAGATACCCAAGCAACTATAATGCTTGGTCCCATCGCATCTGGGTTTTACAGCACTTGGCCAAG
CTAGATGTCAAGATTCTTCTTGATGAACTATCTTCTACTAAACATTGGGCATCTATGCACGTTTCAGACCACAGTGGATTTCACTACCGCCAGTTTTTGCTTAAG
TCTTTGATTAGCCAAACTGTGATAGACAGTTCTGTGATGGAGCAAAATCCTTTGAGAAGTGAGCCAGCCCTAGTTCCTCCAAAAGATGAAGAAGCAGCAGTTTCA
ACAGAAGAACCAAGGATTAATCTTCCCCATCTTCTAGAAGAAGAAGTTGAATTCAGCACTGATCTTATTGATTCCTACCCAGGACATGAAACCCTTTGGTGTCAT
AGGCGGCATATTTTCTACCTTCAGCATCACTTAAATGCAGGCTCCCAGCTGTCTCAAGCAATGGAAGTAGATGGACTGAATGACTCTAGCAAGCAAGGCTATTCC
CAGGAAACCAAACGCCTGAAGCGGACGCCAGTTCCAGACTCCCTAGGCCTAGAAATGGAGCACAGGTTCATTGATCAAGTATTGTCCACCTGTCGGAACGTGGAG
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ATGGCCGAGACCAGCGAGGAGGTGGCGGTGCTGGTGCAGCGGGTTGTGAAGGACATCACTAACGCCTTCAGGAGGAACCCACACATAGATGAAATTGGCCTGATC
CCATGTCCTGAAGCTAGGTATAACCGGAGTCCCATAGTCCTGGTTGAAAACAAACTGGGTGTGGAGAGCTGGTGTGTCAAGTTCCTTTTACCATATGTCCACAAC
AAGCTCCTTTTGTACAGAACAAGAAAGCAATGGCTGAACAGAGATGAATTGATAGATGTCACATGTACCCTGCTGCTTCTAAACCCAGACTTTACCACTGCATGG
AACGTGAGGAAAGAGCTGATCCTCTCTGGCACTTTAAATCCAATTAAGGATTTACATCTGGGAAAACTCGCCTTAACCAAGTTTCCAAAGAGTCCAGAAACATGG
ATTCACAGGCGATGGGTGCTACAACAGCTAATTCAGGAAACCTCCTTGCCTTCCTTTGTGACCAAAGGAAACTTGGGAACAATTCCCACAGAAAGGGCACAGCGA
CTCATACAAGAAGAGATGGAGGTCTGTGGTGAAGCAGCAGGGAGATACCCAAGCAACTATAATGCTTGGTCCCATCGCATCTGGGTTTTACAGCACTTGGCCAAG
CTAGATGTCAAGATTCTTCTTGATGAACTATCTTCTACTAAACATTGGGCATCTATGCACGTTTCAGACCACAGTGGATTTCACTACCGCCAGTTTTTGCTTAAG
TCTTTGATTAGCCAAACTGTGATAGACAGTTCTGTGATGGAGCAAAATCCTTTGAGAAGTGAGCCAGCCCTAGTTCCTCCAAAAGATGAAGAAGCAGCAGTTTCA
ACAGAAGAACCAAGGATTAATCTTCCCCATCTTCTAGAAGAAGAAGTTGAATTCAGCACTGATCTTATTGATTCCTACCCAGGACATGAAACCCTTTGGTGTCAT
AGGCGGCATATTTTCTACCTTCAGCATCACTTAAATGCAGGCTCCCAGCTGTCTCAAGCAATGGAAGTAGATGGACTGAATGACTCTAGCAAGCAAGGCTATTCC
CAGGAAACCAAACGCCTGAAGCGGACGCCAGTTCCAGACTCCCTAGGCCTAGAAATGGAGCACAGGTTCATTGATCAAGTATTGTCCACCTGTCGGAACGTGGAG
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>PTAR1|375743|protein
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQWLNRDELIDVTCTLLLLNPDFTTAW
NVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAK
LDVKILLDELSSTKHWASMHVSDHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCH
RRHIFYLQHHLNAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLSQ
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MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQWLNRDELIDVTCTLLLLNPDFTTAW
NVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAK
LDVKILLDELSSTKHWASMHVSDHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCH
RRHIFYLQHHLNAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLSQ
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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 (0) | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top