AutismKB 2.0

Evidence Details for EML5


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Basic Information Top
Gene Symbol:EML5 ( DKFZp781D1122,EMAP-2 )
Gene Full Name: echinoderm microtubule associated protein like 5
Band: 14q31.3
Quick LinksEntrez ID:161436; OMIM: NA; Uniprot ID:EMAL5_HUMAN; ENSEMBL ID: ENSG00000165521; HGNC ID: 18197
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EML5|161436|nucleotide
ATGGCGGCCCGGAGCGCCCCGAGCTGCCACCTGCGGCTCGAGTGGGTGTACGGCTACCGGGGCCACCAGTGCCGCAACAACCTCTACTACACTGCGGCCAAGGAG
ATCGTATACTTCGTGGCGGGGGTCGGCGTGGTGTACAGCCCGCGGGAGCACAGGCAGAAGTTCTACCGGGGCCACAGCGACGACATCATCAGCCTTGCATTGCAT
CCTGAACGAGTGTTGGTAGCAACAGGACAAGTTGGGAAAGAGCCTTATATTTGTATTTGGGATTCATACACTGTGCAGACCATATCAGTTTTAAAGGATGTTCAT
ACACATGGTATAGCTTGCTTGGCGTTTGACTTAGATGGACAGCGCTTGGTTTCAGTTGGACTTGATTCAAAGAATGCAGTTTGTGTTTGGGACTGGAAAAGGGGA
AAAATGTTGTCTATGGCTCCTGGTCATACAGATAGAATATTTGATATTTCTTGGGATTTGTACCAGCCAAATAAACTTGTCAGCTGTGGTGTAAAACATATCAAG
TTCTGGAGTTTATGTGGAAATGCTCTGACCCCAAAACGAGGTGTCTTTGGTAAGACGGGTGACCTTCAGACAATACTGTGCCTAGCCTGTGCAAGGGATGAATTA
ACATATTCTGGTGCACTCAATGGGGATATATATGTTTGGAAAGGAATCAATCTTATACGAACAATACAAGGAGCCCATGCTGCAGGAATTTTTAGCATGAATGCT
TGTGAAGAAGGCTTTGCTACTGGTGGCAGAGATGGTTGTATTCGTCTTTGGGATTTAACTTTTAAACCAATTACTGTGATTGATCTCAGGGAAACAGACCAGGGA
TACAAAGGTTTGTCTGTAAGGAGTGTGTGTTGGCGAGGTGACCACATTCTAGTTGGAACACAGGACAGTGAAATTTTTGAAATTGTGGTGCAAGAAAGAAATAAA
CCTTTTCTAATTATGCAAGGGCATTGTGAAGGTGAACTTTGGGCACTTGCTGTCCATCCTACTAAACCTTTGGCTGTGACTGGAAGTGATGATCGTTCGGTCAGG
ATATGGAGCCTAGTAGATCATGCATTAATAGCAAGGTGTAATATGGAAGAACCAATTCGTTGTGCAGCTGTCAATGCAGATGGAATCCATCTTGCCCTTGGAATG
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>EML5|161436|protein
MAARSAPSCHLRLEWVYGYRGHQCRNNLYYTAAKEIVYFVAGVGVVYSPREHRQKFYRGHSDDIISLALHPERVLVATGQVGKEPYICIWDSYTVQTISVLKDVH
THGIACLAFDLDGQRLVSVGLDSKNAVCVWDWKRGKMLSMAPGHTDRIFDISWDLYQPNKLVSCGVKHIKFWSLCGNALTPKRGVFGKTGDLQTILCLACARDEL
TYSGALNGDIYVWKGINLIRTIQGAHAAGIFSMNACEEGFATGGRDGCIRLWDLTFKPITVIDLRETDQGYKGLSVRSVCWRGDHILVGTQDSEIFEIVVQERNK
PFLIMQGHCEGELWALAVHPTKPLAVTGSDDRSVRIWSLVDHALIARCNMEEPIRCAAVNADGIHLALGMKDGSFTVLRVRDMTEVVHIKDRKEAIHELKYSPDG
TYLAVGCNDSSVDIYGVAQRYKKVGECLGSLSFITHLDWSSDSRYLQTNDGNGKRLFYRMPGGKEVTSTEEIKGVHWASWTCVSGLEVNGIWPKYSDINDINSVD
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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
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