Evidence Details for PET112L
Basic Information Top
| Gene Symbol: | PET112L ( PET112 ) |
|---|---|
| Gene Full Name: | PET112-like (yeast) |
| Band: | 4q27-q28 |
| Quick Links | Entrez ID:5188; OMIM: 603645; Uniprot ID:GATB_HUMAN; ENSEMBL ID: ENSG00000059691; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PET112L|5188|nucleotide
ATGGCGGCGCCCATGCTGCGCTGGGGCTGCCGTGGAAGACGTTGGGCTTTCGCCCGGGTTGACGGTGGTTCTTGCCACCGAAGAGGGGCTCCGACTGGGTCCACA
TCCAACCAGATTAGGGGAGAGAGCTCAGTGGCTCAGCAGCCCCTCCACACGGCCCAGAAGACGAGGAAAGGTGAACACAAATGGGCTGCTGTGGTAGGTTTGGAA
ATTCATGCCCAGATTTCCTCCAACTCTAAACTCTTCTCTGGATCTCAAGTTCGCTTTTCAGCACCTCCAAATTCTTTGGTTTCTTTTTTTGATGCATCTCTACCT
GGAACTTTGCCGGTTCTCAACAGGAGGTGTGTAGAAGCGGCGGTGATGACAGGCCTGGCTCTGAACTGCCACATAAACAAGAAGTCCTTGTTTGACAGGAAGCAC
TACTTCTATGCAGACCTCCCTGCAGGCTACCAAATTACCCAGCAGAGGCTCCCAATTGCTGTGAATGGGAGCTTGATATATGGCGTCTGTGCAGGGAAGAAGCAG
AGTCAGGTGATCCCCAAGACGGTGAGGATCAAGCAGATCCAGTTGGAGCAAGACAGTGGCAAAAGCCTCCACGACAACCTGAGGTCTCAGACGCTCATTGATTTG
AACAGGGCAGGAGTGGGCCTTCTGGAGGTGGTCCTGGAGCCCGACATGTCCTGTGGAGAAGAGGCGGCAACAGCTGTCAGGGAGCTGCAGCTGATCCTTCAAGCC
CTGGGGACCAGCCAGGCGAACATGGCAGAGGGCCAGTTGAGAGTGGATGCCAATATATCCGTGCATCACCCTGGGGAGCCTTTGGGCGTTCGAACGGAAGTGAAG
AATCTCAACAGCATCAGGTTCCTGGCCAAAGCCATAGACTATGAAATTCAGAGGCAAATCAATGAACTTGAGAATGGAGGTGAAATTCTGAACGAAACACGCTCA
TTTCATCACAAGCTGGGGTGCACCATGTCAATGAGAGACAAAGAAGGAAAACAGGACTACAGGTTCATGCCAGAACCCAACCTGCCTCCCCTGGTGCTCTACGAC
GCCACATCTCTGCCCGCAGGTGCAGACCCACAGCAAGTGATCAATATTGACCAGATTCGGGAGACACTCCCGGAGCTCCCCAGTGTGACCCGAGAGAAGCTTGTC
Show »
ATGGCGGCGCCCATGCTGCGCTGGGGCTGCCGTGGAAGACGTTGGGCTTTCGCCCGGGTTGACGGTGGTTCTTGCCACCGAAGAGGGGCTCCGACTGGGTCCACA
TCCAACCAGATTAGGGGAGAGAGCTCAGTGGCTCAGCAGCCCCTCCACACGGCCCAGAAGACGAGGAAAGGTGAACACAAATGGGCTGCTGTGGTAGGTTTGGAA
ATTCATGCCCAGATTTCCTCCAACTCTAAACTCTTCTCTGGATCTCAAGTTCGCTTTTCAGCACCTCCAAATTCTTTGGTTTCTTTTTTTGATGCATCTCTACCT
GGAACTTTGCCGGTTCTCAACAGGAGGTGTGTAGAAGCGGCGGTGATGACAGGCCTGGCTCTGAACTGCCACATAAACAAGAAGTCCTTGTTTGACAGGAAGCAC
TACTTCTATGCAGACCTCCCTGCAGGCTACCAAATTACCCAGCAGAGGCTCCCAATTGCTGTGAATGGGAGCTTGATATATGGCGTCTGTGCAGGGAAGAAGCAG
AGTCAGGTGATCCCCAAGACGGTGAGGATCAAGCAGATCCAGTTGGAGCAAGACAGTGGCAAAAGCCTCCACGACAACCTGAGGTCTCAGACGCTCATTGATTTG
AACAGGGCAGGAGTGGGCCTTCTGGAGGTGGTCCTGGAGCCCGACATGTCCTGTGGAGAAGAGGCGGCAACAGCTGTCAGGGAGCTGCAGCTGATCCTTCAAGCC
CTGGGGACCAGCCAGGCGAACATGGCAGAGGGCCAGTTGAGAGTGGATGCCAATATATCCGTGCATCACCCTGGGGAGCCTTTGGGCGTTCGAACGGAAGTGAAG
AATCTCAACAGCATCAGGTTCCTGGCCAAAGCCATAGACTATGAAATTCAGAGGCAAATCAATGAACTTGAGAATGGAGGTGAAATTCTGAACGAAACACGCTCA
TTTCATCACAAGCTGGGGTGCACCATGTCAATGAGAGACAAAGAAGGAAAACAGGACTACAGGTTCATGCCAGAACCCAACCTGCCTCCCCTGGTGCTCTACGAC
GCCACATCTCTGCCCGCAGGTGCAGACCCACAGCAAGTGATCAATATTGACCAGATTCGGGAGACACTCCCGGAGCTCCCCAGTGTGACCCGAGAGAAGCTTGTC
Show »
>PET112L|5188|protein
MAAPMLRWGCRGRRWAFARVDGGSCHRRGAPTGSTSNQIRGESSVAQQPLHTAQKTRKGEHKWAAVVGLEIHAQISSNSKLFSGSQVRFSAPPNSLVSFFDASLP
GTLPVLNRRCVEAAVMTGLALNCHINKKSLFDRKHYFYADLPAGYQITQQRLPIAVNGSLIYGVCAGKKQSQVIPKTVRIKQIQLEQDSGKSLHDNLRSQTLIDL
NRAGVGLLEVVLEPDMSCGEEAATAVRELQLILQALGTSQANMAEGQLRVDANISVHHPGEPLGVRTEVKNLNSIRFLAKAIDYEIQRQINELENGGEILNETRS
FHHKLGCTMSMRDKEGKQDYRFMPEPNLPPLVLYDATSLPAGADPQQVINIDQIRETLPELPSVTREKLVQQYGMLLEHSFTLLNEVGLLEFFQNVIKETRAEPK
KVTSWVLNTFLGYLKQQNLAVSESPVTPSALAELLDLLDSRTISSSAAKQVFEELWKREGKTPGQIVSEKQLELMQDQGALEQLCHSVMEAHPQVVMDVKNRNPR
Show »
MAAPMLRWGCRGRRWAFARVDGGSCHRRGAPTGSTSNQIRGESSVAQQPLHTAQKTRKGEHKWAAVVGLEIHAQISSNSKLFSGSQVRFSAPPNSLVSFFDASLP
GTLPVLNRRCVEAAVMTGLALNCHINKKSLFDRKHYFYADLPAGYQITQQRLPIAVNGSLIYGVCAGKKQSQVIPKTVRIKQIQLEQDSGKSLHDNLRSQTLIDL
NRAGVGLLEVVLEPDMSCGEEAATAVRELQLILQALGTSQANMAEGQLRVDANISVHHPGEPLGVRTEVKNLNSIRFLAKAIDYEIQRQINELENGGEILNETRS
FHHKLGCTMSMRDKEGKQDYRFMPEPNLPPLVLYDATSLPAGADPQQVINIDQIRETLPELPSVTREKLVQQYGMLLEHSFTLLNEVGLLEFFQNVIKETRAEPK
KVTSWVLNTFLGYLKQQNLAVSESPVTPSALAELLDLLDSRTISSSAAKQVFEELWKREGKTPGQIVSEKQLELMQDQGALEQLCHSVMEAHPQVVMDVKNRNPR
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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 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) |
||||||
| 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