AutismKB 2.0

Evidence Details for MLL5


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Basic Information Top
Gene Symbol:MLL5 ( FLJ10078,FLJ14026,HDCMC04P,KMT2E,MGC70452 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
Band: 7q22.1
Quick LinksEntrez ID:55904; OMIM: 608444; Uniprot ID:MLL5_HUMAN; ENSEMBL ID: ENSG00000005483; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MLL5|55904|nucleotide
ATGAGCATAGTGATCCCATTGGGGGTTGATACAGCAGAGACGTCATACTTGGAAATGGCTGCAGGTTCAGAACCAGAATCCGTAGAAGCTAGCCCTGTGGTAGTT
GAGAAATCCAACAGTTATCCCCACCAGTTATATACCAGCAGCTCACATCATTCACACAGTTACATTGGTTTGCCCTATGCGGACCATAATTATGGTGCTCGTCCT
CCTCCGACACCTCCGGCTTCCCCTCCTCCATCAGTCCTTATTAGCAAAAATGAAGTAGGCATATTTACCACTCCTAATTTTGATGAAACTTCCAGTGCTACTACA
ATCAGCACATCTGAGGATGGAAGTTATGGTACTGATGTAACCAGGTGCATATGTGGTTTTACACATGATGATGGATACATGATCTGTTGTGACAAATGCAGCGTT
TGGCAACATATTGACTGCATGGGGATTGATAGGCAGCATATTCCTGATACATATCTATGTGAACGTTGTCAGCCTAGGAATTTGGATAAAGAGAGGGCAGTGCTA
CTACAACGCCGGAAAAGGGAAAATATGTCAGATGGTGATACCAGTGCAACTGAGAGTGGTGATGAGGTTCCTGTGGAATTATATACTGCATTTCAGCATACTCCA
ACATCAATTACTTTAACTGCTTCAAGAGTTTCCAAAGTTAATGATAAAAGAAGGAAAAAAAGCGGGGAGAAAGAACAACACATTTCAAAATGTAAAAAGGCATTT
CGTGAAGGATCTAGGAAGTCATCAAGAGTTAAGGGTTCAGCTCCAGAGATTGATCCTTCATCTGATGGTTCAAATTTTGGATGGGAGACAAAGATCAAAGCATGG
ATGGATCGATATGAAGAAGCAAATAACAACCAGTACAGTGAGGGTGTTCAGAGGGAGGCACAAAGAATAGCTCTGAGATTAGGCAATGGAAATGACAAAAAAGAG
ATGAATAAATCCGATTTGAATACCAACAATTTGCTCTTCAAACCTCCTGTAGAGAGCCATATACAAAAGAATAAGAAAATTCTTAAATCTGCAAAAGATTTGCCT
CCTGATGCACTTATCATTGAATACAGAGGGAAGTTTATGCTGAGAGAACAGTTTGAAGCAAATGGGTATTTCTTTAAAAGACCATACCCTTTTGTGTTATTCTAC
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>MLL5|55904|protein
MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVGIFTTPNFDETSSATT
ISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRKRENMSDGDTSATESGDEVPVELYTAFQHTP
TSITLTASRVSKVNDKRRKKSGEKEQHISKCKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREAQRIALRLGNGNDKKE
MNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRGKFMLREQFEANGYFFKRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHE
IQDGTIHLYIYSIHSIPKGTEITIAFDFDYGNCKYKVDCACLKENPECPVLKRSSESMENINSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPET
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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 (2) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top