Evidence Details for KIF13B
Basic Information Top
Gene Symbol: | KIF13B ( GAKIN,KIAA0639 ) |
---|---|
Gene Full Name: | kinesin family member 13B |
Band: | 8p12 |
Quick Links | Entrez ID:23303; OMIM: 607350; Uniprot ID:KI13B_HUMAN; ENSEMBL ID: ENSG00000197892; HGNC ID: 14405 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KIF13B|23303|nucleotide
ATGGGGGACTCCAAAGTGAAAGTGGCGGTGCGGATACGACCCATGAACCGGCGAGAGACTGACTTGCATACCAAATGTGTGGTGGATGTGGATGCAAACAAGGTT
ATTCTTAATCCTGTAAATACGAATCTTTCCAAAGGAGATGCCCGGGGCCAGCCGAAGGTGTTTGCTTATGATCATTGTTTCTGGTCTATGGATGAATCTGTCAAA
GAAAAGTATGCAGGTCAAGATATTGTTTTCAAGTGCCTTGGAGAGAATATCCTGCAGAATGCTTTTGATGGCTACAATGCATGTATCTTTGCCTATGGACAGACT
GGCTCTGGAAAATCTTATACCATGATGGGCACAGCTGACCAACCTGGATTAATCCCAAGACTTTGCAGTGGACTCTTTGAACGAACTCAGAAAGAGGAAAATGAA
GAACAGAGTTTTAAAGTAGAAGTGTCCTACATGGAAATTTATAATGAAAAAGTTCGAGACCTTCTTGATCCCAAAGGAAGCCGTCAGACGTTGAAAGTCAGAGAG
CATAGTGTGTTGGGACCTTATGTCGACGGACTTTCTAAACTGGCTGTCACAAGCTACAAGGATATTGAGTCGTTGATGTCTGAGGGTAACAAATCTCGCACAGTT
GCTGCAACCAACATGAACGAGGAGAGTAGCCGATCCCATGCAGTTTTCAAAATCACCCTCACACATACTCTCTACGATGTGAAGTCTGGGACATCTGGAGAGAAA
GTGGGCAAACTCAGCCTGGTGGATTTAGCTGGCAGTGAACGAGCAACGAAGACAGGCGCTGCAGGGGACAGGCTGAAGGAAGGGAGCAACATTAACAAGTCCCTC
ACAACCCTCGGTCTGGTTATCTCAGCTCTTGCAGATCAGAGTGCTGGCAAAAACAAGAATAAATTTGTTCCATATCGTGACTCAGTTCTCACTTGGCTGCTCAAA
GACAGCCTCGGGGGTAACAGCAAGACCGCCATGGTGGCTACTGTGAGTCCTGCAGCTGATAACTATGATGAAACCCTCTCAACTCTGCGGTATGCAGATCGAGCC
AAGCACATTGTAAACCACGCTGTGGTGAATGAGGACCCTAATGCCCGAATTATCCGGGATCTCCGGGAAGAAGTTGAGAAACTCCGGGAGCAGCTGACCAAAGCA
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ATGGGGGACTCCAAAGTGAAAGTGGCGGTGCGGATACGACCCATGAACCGGCGAGAGACTGACTTGCATACCAAATGTGTGGTGGATGTGGATGCAAACAAGGTT
ATTCTTAATCCTGTAAATACGAATCTTTCCAAAGGAGATGCCCGGGGCCAGCCGAAGGTGTTTGCTTATGATCATTGTTTCTGGTCTATGGATGAATCTGTCAAA
GAAAAGTATGCAGGTCAAGATATTGTTTTCAAGTGCCTTGGAGAGAATATCCTGCAGAATGCTTTTGATGGCTACAATGCATGTATCTTTGCCTATGGACAGACT
GGCTCTGGAAAATCTTATACCATGATGGGCACAGCTGACCAACCTGGATTAATCCCAAGACTTTGCAGTGGACTCTTTGAACGAACTCAGAAAGAGGAAAATGAA
GAACAGAGTTTTAAAGTAGAAGTGTCCTACATGGAAATTTATAATGAAAAAGTTCGAGACCTTCTTGATCCCAAAGGAAGCCGTCAGACGTTGAAAGTCAGAGAG
CATAGTGTGTTGGGACCTTATGTCGACGGACTTTCTAAACTGGCTGTCACAAGCTACAAGGATATTGAGTCGTTGATGTCTGAGGGTAACAAATCTCGCACAGTT
GCTGCAACCAACATGAACGAGGAGAGTAGCCGATCCCATGCAGTTTTCAAAATCACCCTCACACATACTCTCTACGATGTGAAGTCTGGGACATCTGGAGAGAAA
GTGGGCAAACTCAGCCTGGTGGATTTAGCTGGCAGTGAACGAGCAACGAAGACAGGCGCTGCAGGGGACAGGCTGAAGGAAGGGAGCAACATTAACAAGTCCCTC
ACAACCCTCGGTCTGGTTATCTCAGCTCTTGCAGATCAGAGTGCTGGCAAAAACAAGAATAAATTTGTTCCATATCGTGACTCAGTTCTCACTTGGCTGCTCAAA
GACAGCCTCGGGGGTAACAGCAAGACCGCCATGGTGGCTACTGTGAGTCCTGCAGCTGATAACTATGATGAAACCCTCTCAACTCTGCGGTATGCAGATCGAGCC
AAGCACATTGTAAACCACGCTGTGGTGAATGAGGACCCTAATGCCCGAATTATCCGGGATCTCCGGGAAGAAGTTGAGAAACTCCGGGAGCAGCTGACCAAAGCA
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>KIF13B|23303|protein
MGDSKVKVAVRIRPMNRRETDLHTKCVVDVDANKVILNPVNTNLSKGDARGQPKVFAYDHCFWSMDESVKEKYAGQDIVFKCLGENILQNAFDGYNACIFAYGQT
GSGKSYTMMGTADQPGLIPRLCSGLFERTQKEENEEQSFKVEVSYMEIYNEKVRDLLDPKGSRQTLKVREHSVLGPYVDGLSKLAVTSYKDIESLMSEGNKSRTV
AATNMNEESSRSHAVFKITLTHTLYDVKSGTSGEKVGKLSLVDLAGSERATKTGAAGDRLKEGSNINKSLTTLGLVISALADQSAGKNKNKFVPYRDSVLTWLLK
DSLGGNSKTAMVATVSPAADNYDETLSTLRYADRAKHIVNHAVVNEDPNARIIRDLREEVEKLREQLTKAEAMKSPELKDRLEESEKLIQEMTVTWEEKLRKTEE
IAQERQKQLESLGISLQSSGIKVGDDKCFLVNLNADPALNELLVYYLKEHTLIGSANSQDIQLCGMGILPEHCIIDITSEGQVMLTPQKNTRTFVNGSSVSSPIQ
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MGDSKVKVAVRIRPMNRRETDLHTKCVVDVDANKVILNPVNTNLSKGDARGQPKVFAYDHCFWSMDESVKEKYAGQDIVFKCLGENILQNAFDGYNACIFAYGQT
GSGKSYTMMGTADQPGLIPRLCSGLFERTQKEENEEQSFKVEVSYMEIYNEKVRDLLDPKGSRQTLKVREHSVLGPYVDGLSKLAVTSYKDIESLMSEGNKSRTV
AATNMNEESSRSHAVFKITLTHTLYDVKSGTSGEKVGKLSLVDLAGSERATKTGAAGDRLKEGSNINKSLTTLGLVISALADQSAGKNKNKFVPYRDSVLTWLLK
DSLGGNSKTAMVATVSPAADNYDETLSTLRYADRAKHIVNHAVVNEDPNARIIRDLREEVEKLREQLTKAEAMKSPELKDRLEESEKLIQEMTVTWEEKLRKTEE
IAQERQKQLESLGISLQSSGIKVGDDKCFLVNLNADPALNELLVYYLKEHTLIGSANSQDIQLCGMGILPEHCIIDITSEGQVMLTPQKNTRTFVNGSSVSSPIQ
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Evidence summary Top
Click 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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Papanikolaou, 2006 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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