Evidence Details for JAKMIP1
Basic Information Top
| Gene Symbol: | JAKMIP1 ( FLJ31564,Gababrbp,JAMIP1,MARLIN1 ) |
|---|---|
| Gene Full Name: | janus kinase and microtubule interacting protein 1 |
| Band: | 4p16.1 |
| Quick Links | Entrez ID:152789; OMIM: 611195; Uniprot ID:JKIP1_HUMAN; ENSEMBL ID: ENSG00000152969; HGNC ID: 26460 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>JAKMIP1|152789|nucleotide
ATGTCGAAGAAAGGCCGGAGCAAGGGCGAGAAGCCCGAGATGGAGACGGACGCGGTGCAGATGGCCAACGAGGAGCTGCGGGCCAAGCTGACCAGCATTCAGATC
GAGTTCCAGCAGGAAAAAAGCAAGGTGGGCAAACTGCGCGAGCGGCTGCAGGAGGCGAAGCTGGAGCGCGAGCAGGAGCAGCGACGGCACACGGCCTACATTTCG
GAGCTCAAGGCCAAGCTGCATGAGGAGAAGACCAAGGAGCTGCAGGCGCTGCGCGAGGGGCTCATCCGGCAGCACGAGCAGGAGGCGGCGCGCACCGCCAAGATC
AAGGAGGGCGAGCTGCAGCGGCTGCAGGCCACGCTGAACGTGCTGCGCGACGGCGCGGCCGACAAGGTCAAGACGGCGCTGCTGACCGAGGCGCGCGAGGAGGCG
CGCAGGGCCTTCGATGGAGAGCGCCTGCGGCTGCAGCAGGAGATCCTGGAGCTCAAGGCAGCGCGCAAGCAGGCAGAGGAGGCGCTCAGTAACTGCATGCAGGCT
GACAAGACCAAGGCAGCCGACCTGCGTGCCGCCTACCAGGCGCACCAAGACGAGGTGCACCGCATCAAGCGCGAGTGCGAGCGCGACATCCGCAGGCTGATGGAT
GAGATCAAAGGGAAAGACCGTGTGATTCTGGCCTTGGAGAAGGAACTTGGCGTGCAGGCTGGGCAGACCCAGAAGCTGCTTCTGCAGAAAGAGGCTTTGGATGAG
CAGCTGGTTCAGGTCAAGGAGGCCGAGCGGCACCACAGTAGTCCAAAGAGAGAGCTCCCGCCCGGGATCGGGGACATGGTGGAGCTCATGGGCGTCCAGGATCAA
CATATGGACGAGCGAGATGTGAGGCGATTTCAACTAAAAATTGCTGAACTGAATTCAGTGATACGGAAGCTGGAAGACAGAAATACGCTGTTGGCAGATGAGAGG
AATGAACTGCTGAAACGCTCACGAGAGACCGAGGTTCAGCTGAAGCCCCTGGTGGAGAAGAACAAGCGGATGAACAAGAAGAATGAGGATCTGTTGCAGAGTATC
CAGAGGATGGAGGAGAAAATCAAGAACCTCACGCGGGAAAACGTGGAAATGAAAGAAAAGCTGTCAGCGCAGGCGTCTCTGAAGCGGCATACCTCCTTGAATGAC
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ATGTCGAAGAAAGGCCGGAGCAAGGGCGAGAAGCCCGAGATGGAGACGGACGCGGTGCAGATGGCCAACGAGGAGCTGCGGGCCAAGCTGACCAGCATTCAGATC
GAGTTCCAGCAGGAAAAAAGCAAGGTGGGCAAACTGCGCGAGCGGCTGCAGGAGGCGAAGCTGGAGCGCGAGCAGGAGCAGCGACGGCACACGGCCTACATTTCG
GAGCTCAAGGCCAAGCTGCATGAGGAGAAGACCAAGGAGCTGCAGGCGCTGCGCGAGGGGCTCATCCGGCAGCACGAGCAGGAGGCGGCGCGCACCGCCAAGATC
AAGGAGGGCGAGCTGCAGCGGCTGCAGGCCACGCTGAACGTGCTGCGCGACGGCGCGGCCGACAAGGTCAAGACGGCGCTGCTGACCGAGGCGCGCGAGGAGGCG
CGCAGGGCCTTCGATGGAGAGCGCCTGCGGCTGCAGCAGGAGATCCTGGAGCTCAAGGCAGCGCGCAAGCAGGCAGAGGAGGCGCTCAGTAACTGCATGCAGGCT
GACAAGACCAAGGCAGCCGACCTGCGTGCCGCCTACCAGGCGCACCAAGACGAGGTGCACCGCATCAAGCGCGAGTGCGAGCGCGACATCCGCAGGCTGATGGAT
GAGATCAAAGGGAAAGACCGTGTGATTCTGGCCTTGGAGAAGGAACTTGGCGTGCAGGCTGGGCAGACCCAGAAGCTGCTTCTGCAGAAAGAGGCTTTGGATGAG
CAGCTGGTTCAGGTCAAGGAGGCCGAGCGGCACCACAGTAGTCCAAAGAGAGAGCTCCCGCCCGGGATCGGGGACATGGTGGAGCTCATGGGCGTCCAGGATCAA
CATATGGACGAGCGAGATGTGAGGCGATTTCAACTAAAAATTGCTGAACTGAATTCAGTGATACGGAAGCTGGAAGACAGAAATACGCTGTTGGCAGATGAGAGG
AATGAACTGCTGAAACGCTCACGAGAGACCGAGGTTCAGCTGAAGCCCCTGGTGGAGAAGAACAAGCGGATGAACAAGAAGAATGAGGATCTGTTGCAGAGTATC
CAGAGGATGGAGGAGAAAATCAAGAACCTCACGCGGGAAAACGTGGAAATGAAAGAAAAGCTGTCAGCGCAGGCGTCTCTGAAGCGGCATACCTCCTTGAATGAC
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>JAKMIP1|152789|protein
MSKKGRSKGEKPEMETDAVQMANEELRAKLTSIQIEFQQEKSKVGKLRERLQEAKLEREQEQRRHTAYISELKAKLHEEKTKELQALREGLIRQHEQEAARTAKI
KEGELQRLQATLNVLRDGAADKVKTALLTEAREEARRAFDGERLRLQQEILELKAARKQAEEALSNCMQADKTKAADLRAAYQAHQDEVHRIKRECERDIRRLMD
EIKGKDRVILALEKELGVQAGQTQKLLLQKEALDEQLVQVKEAERHHSSPKRELPPGIGDMVELMGVQDQHMDERDVRRFQLKIAELNSVIRKLEDRNTLLADER
NELLKRSRETEVQLKPLVEKNKRMNKKNEDLLQSIQRMEEKIKNLTRENVEMKEKLSAQASLKRHTSLNDLSLTRDEQEIEFLRLQVLEQQHVIDDLSLERERLL
RSKRHRGKSLKPPKKHVVETFFGFDEESVDSETLSETSYNTDRTDRTPATPEEDLDDATAREEADLRFCQLTREYQALQRAYALLQEQVGGTLDAEREARTREQL
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MSKKGRSKGEKPEMETDAVQMANEELRAKLTSIQIEFQQEKSKVGKLRERLQEAKLEREQEQRRHTAYISELKAKLHEEKTKELQALREGLIRQHEQEAARTAKI
KEGELQRLQATLNVLRDGAADKVKTALLTEAREEARRAFDGERLRLQQEILELKAARKQAEEALSNCMQADKTKAADLRAAYQAHQDEVHRIKRECERDIRRLMD
EIKGKDRVILALEKELGVQAGQTQKLLLQKEALDEQLVQVKEAERHHSSPKRELPPGIGDMVELMGVQDQHMDERDVRRFQLKIAELNSVIRKLEDRNTLLADER
NELLKRSRETEVQLKPLVEKNKRMNKKNEDLLQSIQRMEEKIKNLTRENVEMKEKLSAQASLKRHTSLNDLSLTRDEQEIEFLRLQVLEQQHVIDDLSLERERLL
RSKRHRGKSLKPPKKHVVETFFGFDEESVDSETLSETSYNTDRTDRTPATPEEDLDDATAREEADLRFCQLTREYQALQRAYALLQEQVGGTLDAEREARTREQL
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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) | 0 (0) | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 11 (4) |
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | | | autism with FMR1-FM | autism | 15 (-) |
1.98 | Up | 0.0000055 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS 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.