Evidence Details for MAP1B
Basic Information Top
Gene Symbol: | MAP1B ( DKFZp686E1099,DKFZp686F1345,FLJ38954,FUTSCH,MAP5 ) |
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Gene Full Name: | microtubule-associated protein 1B |
Band: | 5q13.2 |
Quick Links | Entrez ID:4131; OMIM: 157129; Uniprot ID:MAP1B_HUMAN; ENSEMBL ID: ENSG00000131711; HGNC ID: 6836 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MAP1B|4131|nucleotide
ATGGCGACCGTGGTGGTGGAAGCCACCGAGCCGGAGCCGTCCGGCAGCATCGCCAACCCGGCGGCGTCCACCTCGCCTAGCCTGTCGCACCGCTTCCTTGACAGC
AAGTTCTACTTGCTGGTGGTCGTCGGCGAGATCGTGACCGAGGAGCACCTGCGGCGTGCCATCGGCAACATCGAGCTCGGAATCCGATCATGGGACACAAACCTG
ATTGAATGCAACTTGGACCAAGAACTCAAACTTTTTGTATCTCGACACTCTGCAAGATTCTCTCCTGAAGTCCCAGGACAAAAGATCCTTCATCACCGAAGTGAC
GTTTTAGAAACAGTGGTCCTGATCAACCCTTCTGATGAAGCAGTCAGCACCGAGGTGCGCTTAATGATCACTGATGCTGCCCGACACAAGCTGCTCGTGCTGACC
GGGCAGTGCTTTGAAAATACCGGAGAGCTCATTCTCCAGTCCGGCTCTTTCTCCTTCCAGAACTTCATAGAGATTTTCACCGATCAAGAGATCGGGGAGTTACTA
AGCACCACCCATCCTGCCAACAAAGCCAGCTTAACCCTGTTCTGTCCTGAAGAAGGGGACTGGAAGAACTCCAATCTTGACAGACACAATCTCCAAGACTTCATC
AATATTAAACTCAATTCAGCTTCTATCTTGCCAGAAATGGAAGGACTTTCTGAGTTTACCGAGTATCTCTCAGAATCAGTGGAAGTCCCATCTCCCTTTGACATC
TTGGAACCTCCCACATCGGGTGGATTTCTGAAGCTCTCCAAGCCCTGCTGTTATATTTTTCCAGGAGGGAGGGGCGATTCTGCCTTGTTTGCAGTGAATGGTTTC
AATATGCTCATCAATGGCGGATCAGAGAGAAAATCCTGCTTCTGGAAGCTCATCCGACACTTAGACCGAGTGGACTCCATCCTGCTCACCCACATTGGGGATGAC
AATTTGCCTGGAATAAACAGCATGTTACAGCGGAAAATTGCAGAGCTCGAGGAAGAACAGTCCCAGGGCTCCACCACAAATAGTGACTGGATGAAAAACCTCATC
TCCCCTGACTTAGGAGTTGTATTTCTCAATGTACCTGAAAATCTCAAAAATCCAGAGCCAAACATCAAGATGAAGAGAAGCATAGAAGAAGCCTGCTTCACTCTC
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ATGGCGACCGTGGTGGTGGAAGCCACCGAGCCGGAGCCGTCCGGCAGCATCGCCAACCCGGCGGCGTCCACCTCGCCTAGCCTGTCGCACCGCTTCCTTGACAGC
AAGTTCTACTTGCTGGTGGTCGTCGGCGAGATCGTGACCGAGGAGCACCTGCGGCGTGCCATCGGCAACATCGAGCTCGGAATCCGATCATGGGACACAAACCTG
ATTGAATGCAACTTGGACCAAGAACTCAAACTTTTTGTATCTCGACACTCTGCAAGATTCTCTCCTGAAGTCCCAGGACAAAAGATCCTTCATCACCGAAGTGAC
GTTTTAGAAACAGTGGTCCTGATCAACCCTTCTGATGAAGCAGTCAGCACCGAGGTGCGCTTAATGATCACTGATGCTGCCCGACACAAGCTGCTCGTGCTGACC
GGGCAGTGCTTTGAAAATACCGGAGAGCTCATTCTCCAGTCCGGCTCTTTCTCCTTCCAGAACTTCATAGAGATTTTCACCGATCAAGAGATCGGGGAGTTACTA
AGCACCACCCATCCTGCCAACAAAGCCAGCTTAACCCTGTTCTGTCCTGAAGAAGGGGACTGGAAGAACTCCAATCTTGACAGACACAATCTCCAAGACTTCATC
AATATTAAACTCAATTCAGCTTCTATCTTGCCAGAAATGGAAGGACTTTCTGAGTTTACCGAGTATCTCTCAGAATCAGTGGAAGTCCCATCTCCCTTTGACATC
TTGGAACCTCCCACATCGGGTGGATTTCTGAAGCTCTCCAAGCCCTGCTGTTATATTTTTCCAGGAGGGAGGGGCGATTCTGCCTTGTTTGCAGTGAATGGTTTC
AATATGCTCATCAATGGCGGATCAGAGAGAAAATCCTGCTTCTGGAAGCTCATCCGACACTTAGACCGAGTGGACTCCATCCTGCTCACCCACATTGGGGATGAC
AATTTGCCTGGAATAAACAGCATGTTACAGCGGAAAATTGCAGAGCTCGAGGAAGAACAGTCCCAGGGCTCCACCACAAATAGTGACTGGATGAAAAACCTCATC
TCCCCTGACTTAGGAGTTGTATTTCTCAATGTACCTGAAAATCTCAAAAATCCAGAGCCAAACATCAAGATGAAGAGAAGCATAGAAGAAGCCTGCTTCACTCTC
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>MAP1B|4131|protein
MATVVVEATEPEPSGSIANPAASTSPSLSHRFLDSKFYLLVVVGEIVTEEHLRRAIGNIELGIRSWDTNLIECNLDQELKLFVSRHSARFSPEVPGQKILHHRSD
VLETVVLINPSDEAVSTEVRLMITDAARHKLLVLTGQCFENTGELILQSGSFSFQNFIEIFTDQEIGELLSTTHPANKASLTLFCPEEGDWKNSNLDRHNLQDFI
NIKLNSASILPEMEGLSEFTEYLSESVEVPSPFDILEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNMLINGGSERKSCFWKLIRHLDRVDSILLTHIGDD
NLPGINSMLQRKIAELEEEQSQGSTTNSDWMKNLISPDLGVVFLNVPENLKNPEPNIKMKRSIEEACFTLQYLNKLSMKPEPLFRSVGNTIDPVILFQKMGVGKL
EMYVLNPVKSSKEMQYFMQQWTGTNKDKAEFILPNGQEVDLPISYLTSVSSLIVWHPANPAEKIIRVLFPGNSTQYNILEGLEKLKHLDFLKQPLATQKDLTGQV
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MATVVVEATEPEPSGSIANPAASTSPSLSHRFLDSKFYLLVVVGEIVTEEHLRRAIGNIELGIRSWDTNLIECNLDQELKLFVSRHSARFSPEVPGQKILHHRSD
VLETVVLINPSDEAVSTEVRLMITDAARHKLLVLTGQCFENTGELILQSGSFSFQNFIEIFTDQEIGELLSTTHPANKASLTLFCPEEGDWKNSNLDRHNLQDFI
NIKLNSASILPEMEGLSEFTEYLSESVEVPSPFDILEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNMLINGGSERKSCFWKLIRHLDRVDSILLTHIGDD
NLPGINSMLQRKIAELEEEQSQGSTTNSDWMKNLISPDLGVVFLNVPENLKNPEPNIKMKRSIEEACFTLQYLNKLSMKPEPLFRSVGNTIDPVILFQKMGVGKL
EMYVLNPVKSSKEMQYFMQQWTGTNKDKAEFILPNGQEVDLPISYLTSVSSLIVWHPANPAEKIIRVLFPGNSTQYNILEGLEKLKHLDFLKQPLATQKDLTGQV
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Evidence summary Top
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Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | (0) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 |
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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