AutismKB 2.0

Evidence Details for MCOLN3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MCOLN3 ( FLJ11006,FLJ36629,MGC71509,TRP-ML3,TRPML3 )
Gene Full Name: mucolipin 3
Band: 1p22.3
Quick LinksEntrez ID:55283; OMIM: 607400; Uniprot ID:MCLN3_HUMAN; ENSEMBL ID: ENSG00000055732; HGNC ID: 13358
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCOLN3|55283|nucleotide
ATGGCAGATCCTGAGGTAGTTGTGAGTAGCTGCAGCTCTCATGAAGAGGAAAATCGCTGCAATTTTAACCAGCAAACATCTCCATCTGAGGAGCTTCTATTAGAA
GACCAGATGAGGCGAAAACTCAAATTTTTTTTCATGAATCCCTGTGAGAAGTTCTGGGCTCGAGGTAGAAAACCATGGAAACTTGCCATACAAATTCTAAAAATT
GCAATGGTGACTATCCAGCTGGTCTTATTTGGGCTAAGTAACCAGATGGTGGTAGCTTTCAAGGAAGAGAATACTATAGCATTCAAACACCTTTTCCTAAAAGGA
TATATGGACCGAATGGATGACACATATGCAGTGTACACACAAAGTGACGTGTATGATCAGTTAATCTTCGCAGTAAACCAGTACTTGCAGCTATACAATGTCTCC
GTTGGGAATCATGCTTATGAGAACAAAGGTACCAAGCAATCTGCTATGGCAATCTGTCAGCACTTCTACAAGCGAGGAAACATCTACCCTGGAAATGATACCTTT
GACATCGATCCAGAAATTGAAACTGAGTGTTTCTTTGTGGAGCCAGATGAACCTTTTCACATTGGGACACCAGCAGAAAATAAACTGAACTTAACACTGGACTTC
CACAGACTCCTAACAGTGGAGCTTCAGTTTAAACTGAAAGCCATTAATCTGCAGACAGTTCGTCATCAAGAACTCCCTGACTGTTATGACTTTACTCTGACTATA
ACATTTGACAACAAGGCCCATAGTGGAAGAATTAAAATAAGTTTAGATAATGACATTTCCATCAGAGAATGTAAAGACTGGCATGTATCTGGATCAATTCAGAAG
AACACTCATTACATGATGATCTTTGATGCCTTTGTCATTCTGACTTGCTTGGTTTCATTAATCCTCTGCATTAGATCTGTGATTAGAGGACTTCAGCTTCAGCAG
GAGTTTGTCAATTTTTTCCTCCTCCATTATAAGAAGGAAGTTTCTGTTTCTGATCAAATGGAATTTGTCAATGGATGGTACATTATGATTATTATTAGTGACATA
TTGACAATCATTGGATCAATTCTAAAAATGGAAATCCAAGCTAAGAGTCTAACTAGTTATGATGTCTGTAGCATACTTCTTGGGACTTCTACCATGCTCGTGTGG
Show »

>MCOLN3|55283|protein
MADPEVVVSSCSSHEEENRCNFNQQTSPSEELLLEDQMRRKLKFFFMNPCEKFWARGRKPWKLAIQILKIAMVTIQLVLFGLSNQMVVAFKEENTIAFKHLFLKG
YMDRMDDTYAVYTQSDVYDQLIFAVNQYLQLYNVSVGNHAYENKGTKQSAMAICQHFYKRGNIYPGNDTFDIDPEIETECFFVEPDEPFHIGTPAENKLNLTLDF
HRLLTVELQFKLKAINLQTVRHQELPDCYDFTLTITFDNKAHSGRIKISLDNDISIRECKDWHVSGSIQKNTHYMMIFDAFVILTCLVSLILCIRSVIRGLQLQQ
EFVNFFLLHYKKEVSVSDQMEFVNGWYIMIIISDILTIIGSILKMEIQAKSLTSYDVCSILLGTSTMLVWLGVIRYLGFFAKYNLLILTLQAALPNVIRFCCCAA
MIYLGYCFCGWIVLGPYHDKFRSLNMVSECLFSLINGDDMFATFAKMQQKSYLVWLFSRIYLYSFISLFIYMILSLFIALITDTYETIKQYQQDGFPETELRTFI
Show »

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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top