Evidence Details for POTEB
Basic Information Top
| Gene Symbol: | POTEB ( A26B1,CT104.5,MGC119371,MGC119373,POTE-15,POTE15 ) |
|---|---|
| Gene Full Name: | POTE ankyrin domain family, member B |
| Band: | 15q11.2 |
| Quick Links | Entrez ID:339010; OMIM: 608912; Uniprot ID:POTEB_HUMAN; ENSEMBL ID: ENSG00000233917; HGNC ID: 33734 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POTEB|339010|nucleotide
ATGGTGGCTGAGGTTTGTTCAATGCCCGCTGCCTCTGCTGTGAAGAAGCCATTTGATCTCAGGAGCAAGATGGGCAAGTGGTGCCACCACCGCTTCCCCTGCTGC
AGGGGGAGCGGCAAGAGCAACATGGGCACTTCTGGAGACCACGACGACTCCTTTATGAAGACGCTCAGGAGCAAGATGGGCAAGTGTTGCCACCACTGCTTCCCC
TGCTGCAGGGGGAGCGGCACGAGCAATGTGGGCACTTCTGGAGACCATGACAACTCCTTTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGTCACTGC
TTCCCCTGCTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTGGGGAGACTACGACGACAGCGCCTTCATGGAGCCGAGGTACCACGTCCGTCGAGAAGATCTG
GACAAGCTCCACAGAGCTGCCTGGTGGGGTAAAGTCCCCAGAAAGGATCTCATCGTCATGCTCAGGGACACTGACATGAACAAGAGGGACAAGCAAAAGAGGACT
GCTCTACATTTGGCCTCTGCCAATGGAAATTCAGAAGTAGTACAACTCCTGCTGGACAGACGATGTCAACTTAACGTCCTTGACAACAAAAAAAGGACAGCTCTG
ATAAAGGCCGTACAATGCCAGGAAGATGAATGTGTGTTAATGTTGCTGGAACATGGCGCTGATGGAAATATTCAAGATGAGTATGGAAATACCGCTCTACACTAT
GCTATCTACAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTATATGGTGCTGATATTGAATCAAAAAACAAGTGTGGCCTCACACCACTTTTGCTTGGCGTA
CATGAACAAAAACAGCAAGTGGTGAAATTTTTAATCAAGAAAAAAGCTAATTTAAATGCACTTGATAGATATGGAAGAACTGCCCTCATACTTGCTGTATGTTGT
GGATCAGCAAGTATAGTCAATCTTCTACTTGAGCAAAATGTTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTGTTTCTAGTCATCAT
CATGTAATTTGTGAATTACTTTCTGACTATAAAGAAAAACAGATGCTAAAAATCTCTTCTGAAAACAGCAATCCAGAACAAGACTTAAAGCTGACATCAGAGGAA
Show »
ATGGTGGCTGAGGTTTGTTCAATGCCCGCTGCCTCTGCTGTGAAGAAGCCATTTGATCTCAGGAGCAAGATGGGCAAGTGGTGCCACCACCGCTTCCCCTGCTGC
AGGGGGAGCGGCAAGAGCAACATGGGCACTTCTGGAGACCACGACGACTCCTTTATGAAGACGCTCAGGAGCAAGATGGGCAAGTGTTGCCACCACTGCTTCCCC
TGCTGCAGGGGGAGCGGCACGAGCAATGTGGGCACTTCTGGAGACCATGACAACTCCTTTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGTCACTGC
TTCCCCTGCTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTGGGGAGACTACGACGACAGCGCCTTCATGGAGCCGAGGTACCACGTCCGTCGAGAAGATCTG
GACAAGCTCCACAGAGCTGCCTGGTGGGGTAAAGTCCCCAGAAAGGATCTCATCGTCATGCTCAGGGACACTGACATGAACAAGAGGGACAAGCAAAAGAGGACT
GCTCTACATTTGGCCTCTGCCAATGGAAATTCAGAAGTAGTACAACTCCTGCTGGACAGACGATGTCAACTTAACGTCCTTGACAACAAAAAAAGGACAGCTCTG
ATAAAGGCCGTACAATGCCAGGAAGATGAATGTGTGTTAATGTTGCTGGAACATGGCGCTGATGGAAATATTCAAGATGAGTATGGAAATACCGCTCTACACTAT
GCTATCTACAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTATATGGTGCTGATATTGAATCAAAAAACAAGTGTGGCCTCACACCACTTTTGCTTGGCGTA
CATGAACAAAAACAGCAAGTGGTGAAATTTTTAATCAAGAAAAAAGCTAATTTAAATGCACTTGATAGATATGGAAGAACTGCCCTCATACTTGCTGTATGTTGT
GGATCAGCAAGTATAGTCAATCTTCTACTTGAGCAAAATGTTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTGTTTCTAGTCATCAT
CATGTAATTTGTGAATTACTTTCTGACTATAAAGAAAAACAGATGCTAAAAATCTCTTCTGAAAACAGCAATCCAGAACAAGACTTAAAGCTGACATCAGAGGAA
Show »
>POTEB|339010|protein
MVAEVCSMPAASAVKKPFDLRSKMGKWCHHRFPCCRGSGKSNMGTSGDHDDSFMKTLRSKMGKCCHHCFPCCRGSGTSNVGTSGDHDNSFMKTLRSKMGKWCCHC
FPCCRGSGKSNVGTWGDYDDSAFMEPRYHVRREDLDKLHRAAWWGKVPRKDLIVMLRDTDMNKRDKQKRTALHLASANGNSEVVQLLLDRRCQLNVLDNKKRTAL
IKAVQCQEDECVLMLLEHGADGNIQDEYGNTALHYAIYNEDKLMAKALLLYGADIESKNKCGLTPLLLGVHEQKQQVVKFLIKKKANLNALDRYGRTALILAVCC
GSASIVNLLLEQNVDVSSQDLSGQTAREYAVSSHHHVICELLSDYKEKQMLKISSENSNPEQDLKLTSEEESQRLKVSENSQPEKMSQEPEINKDCDREVEEEIK
KHGSNPVGLPENLTNGASAGNGDDGLIPQRKSRKPENQQFPDTENEEYHSDEQNDTQKQLSEEQNTGISQDEILTNKQKQIEVAEKEMNSKLSLSHKKEEDLLRE
Show »
MVAEVCSMPAASAVKKPFDLRSKMGKWCHHRFPCCRGSGKSNMGTSGDHDDSFMKTLRSKMGKCCHHCFPCCRGSGTSNVGTSGDHDNSFMKTLRSKMGKWCCHC
FPCCRGSGKSNVGTWGDYDDSAFMEPRYHVRREDLDKLHRAAWWGKVPRKDLIVMLRDTDMNKRDKQKRTALHLASANGNSEVVQLLLDRRCQLNVLDNKKRTAL
IKAVQCQEDECVLMLLEHGADGNIQDEYGNTALHYAIYNEDKLMAKALLLYGADIESKNKCGLTPLLLGVHEQKQQVVKFLIKKKANLNALDRYGRTALILAVCC
GSASIVNLLLEQNVDVSSQDLSGQTAREYAVSSHHHVICELLSDYKEKQMLKISSENSNPEQDLKLTSEEESQRLKVSENSQPEKMSQEPEINKDCDREVEEEIK
KHGSNPVGLPENLTNGASAGNGDDGLIPQRKSRKPENQQFPDTENEEYHSDEQNDTQKQLSEEQNTGISQDEILTNKQKQIEVAEKEMNSKLSLSHKKEEDLLRE
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 (0) | 2 (13) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (13) |
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 | ||||||
| Wolpert, 2000 | - | STS mapping |  |  | autism | 3 | - | 3 | - | 3 | - | 3 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Silva, 2002 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Keller, 2003 | USA | FISH | | | ASD | - | - | - | - | 2 | - | 2 |
| Sahoo, 2005 | USA | aCGH | | | autism | - | - | - | - | 9 | - | 9 |
| Wassink, 2007 | USA | FISH | | | PDD | - | - | - | - | 104 | - | 104 |
| Sebat, 2007 | USA | aCGH | | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Bremer, 2009 | - | aCGH | | | ASD | - | - | - | - | 148 | - | 148 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Laplana M, 2014 | - | aCGH | | | ASD | 1 | - | - | - | 1 | 5 | 6 |
Linkage Studies Top