Evidence Details for KATNAL1
Basic Information Top
| Gene Symbol: | KATNAL1 ( MGC2599 ) |
|---|---|
| Gene Full Name: | katanin p60 subunit A-like 1 |
| Band: | 13q12.3 |
| Quick Links | Entrez ID:84056; OMIM: NA; Uniprot ID:KATL1_HUMAN; ENSEMBL ID: ENSG00000102781; HGNC ID: 28361 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KATNAL1|84056|nucleotide
ATGAATTTGGCTGAGATTTGTGATAATGCAAAGAAAGGAAGAGAATATGCCCTTCTTGGAAATTACGACTCATCAATGGTATATTACCAGGGGGTGATGCAGCAG
ATTCAGAGACATTGCCAGTCAGTCAGAGATCCAGCTATCAAAGGCAAATGGCAACAGGTTCGGCAGGAATTATTGGAGGAATATGAACAAGTTAAAAGTATTGTC
AGCACTTTAGAAAGTTTTAAAATTGACAAGCCTCCAGATTTCCCTGTGTCCTGTCAAGATGAACCATTTAGAGATCCTGCTGTTTGGCCACCCCCTGTTCCTGCA
GAACACAGAGCTCCACCTCAGATCAGGCGTCCCAATCGAGAAGTAAGACCTCTGAGGAAAGAAATGGCAGGAGTAGGAGCCCGGGGACCTGTAGGCCGAGCACAT
CCTATATCAAAGAGTGAAAAGCCTTCTACAAGTAGGGACAAGGACTATAGAGCAAGAGGGAGAGATGACAAGGGAAGGAAGAATATGCAAGATGGTGCAAGTGAT
GGTGAAATGCCAAAATTTGATGGTGCTGGTTATGATAAGGATCTGGTGGAAGCCCTTGAAAGAGACATTGTATCCAGGAATCCTAGCATTCATTGGGATGACATA
GCAGATCTGGAAGAAGCTAAGAAGTTGCTAAGGGAAGCTGTTGTTCTTCCAATGTGGATGCCTGACTTTTTCAAAGGGATTAGAAGGCCATGGAAGGGTGTACTG
ATGGTTGGACCCCCAGGCACTGGTAAAACTATGCTAGCTAAAGCTGTTGCCACTGAATGTGGTACAACATTCTTCAACGTTTCGTCTTCTACACTGACATCTAAA
TACAGAGGTGAATCTGAGAAGTTAGTTCGTCTGTTGTTTGAGATGGCTAGATTTTATGCCCCTACCACGATCTTCATTGATGAGATAGATTCTATCTGCAGTCGA
AGAGGAACCTCTGATGAACATGAGGCAAGTCGCAGGGTCAAGTCTGAACTGCTCATTCAGATGGATGGAGTTGGAGGAGCTTTAGAAAATGATGATCCTTCCAAA
ATGGTTATGGTATTGGCTGCTACTAATTTCCCGTGGGACATTGATGAAGCTTTGCGAAGAAGGTTAGAAAAAAGGATATATATACCTCTCCCAACAGCAAAAGGA
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ATGAATTTGGCTGAGATTTGTGATAATGCAAAGAAAGGAAGAGAATATGCCCTTCTTGGAAATTACGACTCATCAATGGTATATTACCAGGGGGTGATGCAGCAG
ATTCAGAGACATTGCCAGTCAGTCAGAGATCCAGCTATCAAAGGCAAATGGCAACAGGTTCGGCAGGAATTATTGGAGGAATATGAACAAGTTAAAAGTATTGTC
AGCACTTTAGAAAGTTTTAAAATTGACAAGCCTCCAGATTTCCCTGTGTCCTGTCAAGATGAACCATTTAGAGATCCTGCTGTTTGGCCACCCCCTGTTCCTGCA
GAACACAGAGCTCCACCTCAGATCAGGCGTCCCAATCGAGAAGTAAGACCTCTGAGGAAAGAAATGGCAGGAGTAGGAGCCCGGGGACCTGTAGGCCGAGCACAT
CCTATATCAAAGAGTGAAAAGCCTTCTACAAGTAGGGACAAGGACTATAGAGCAAGAGGGAGAGATGACAAGGGAAGGAAGAATATGCAAGATGGTGCAAGTGAT
GGTGAAATGCCAAAATTTGATGGTGCTGGTTATGATAAGGATCTGGTGGAAGCCCTTGAAAGAGACATTGTATCCAGGAATCCTAGCATTCATTGGGATGACATA
GCAGATCTGGAAGAAGCTAAGAAGTTGCTAAGGGAAGCTGTTGTTCTTCCAATGTGGATGCCTGACTTTTTCAAAGGGATTAGAAGGCCATGGAAGGGTGTACTG
ATGGTTGGACCCCCAGGCACTGGTAAAACTATGCTAGCTAAAGCTGTTGCCACTGAATGTGGTACAACATTCTTCAACGTTTCGTCTTCTACACTGACATCTAAA
TACAGAGGTGAATCTGAGAAGTTAGTTCGTCTGTTGTTTGAGATGGCTAGATTTTATGCCCCTACCACGATCTTCATTGATGAGATAGATTCTATCTGCAGTCGA
AGAGGAACCTCTGATGAACATGAGGCAAGTCGCAGGGTCAAGTCTGAACTGCTCATTCAGATGGATGGAGTTGGAGGAGCTTTAGAAAATGATGATCCTTCCAAA
ATGGTTATGGTATTGGCTGCTACTAATTTCCCGTGGGACATTGATGAAGCTTTGCGAAGAAGGTTAGAAAAAAGGATATATATACCTCTCCCAACAGCAAAAGGA
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>KATNAL1|84056|protein
MNLAEICDNAKKGREYALLGNYDSSMVYYQGVMQQIQRHCQSVRDPAIKGKWQQVRQELLEEYEQVKSIVSTLESFKIDKPPDFPVSCQDEPFRDPAVWPPPVPA
EHRAPPQIRRPNREVRPLRKEMAGVGARGPVGRAHPISKSEKPSTSRDKDYRARGRDDKGRKNMQDGASDGEMPKFDGAGYDKDLVEALERDIVSRNPSIHWDDI
ADLEEAKKLLREAVVLPMWMPDFFKGIRRPWKGVLMVGPPGTGKTMLAKAVATECGTTFFNVSSSTLTSKYRGESEKLVRLLFEMARFYAPTTIFIDEIDSICSR
RGTSDEHEASRRVKSELLIQMDGVGGALENDDPSKMVMVLAATNFPWDIDEALRRRLEKRIYIPLPTAKGRAELLKINLREVELDPDIQLEDIAEKIEGYSGADI
TNVCRDASLMAMRRRINGLSPEEIRALSKEELQMPVTKGDFELALKKIAKSVSAADLEKYEKWMVEFGSA
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MNLAEICDNAKKGREYALLGNYDSSMVYYQGVMQQIQRHCQSVRDPAIKGKWQQVRQELLEEYEQVKSIVSTLESFKIDKPPDFPVSCQDEPFRDPAVWPPPVPA
EHRAPPQIRRPNREVRPLRKEMAGVGARGPVGRAHPISKSEKPSTSRDKDYRARGRDDKGRKNMQDGASDGEMPKFDGAGYDKDLVEALERDIVSRNPSIHWDDI
ADLEEAKKLLREAVVLPMWMPDFFKGIRRPWKGVLMVGPPGTGKTMLAKAVATECGTTFFNVSSSTLTSKYRGESEKLVRLLFEMARFYAPTTIFIDEIDSICSR
RGTSDEHEASRRVKSELLIQMDGVGGALENDDPSKMVMVLAATNFPWDIDEALRRRLEKRIYIPLPTAKGRAELLKINLREVELDPDIQLEDIAEKIEGYSGADI
TNVCRDASLMAMRRRINGLSPEEIRALSKEELQMPVTKGDFELALKKIAKSVSAADLEKYEKWMVEFGSA
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Smith, 2002 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top