AutismKB 2.0

Evidence Details for MCCC2


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Basic Information Top
Gene Symbol:MCCC2 ( MCCB )
Gene Full Name: methylcrotonoyl-CoA carboxylase 2 (beta)
Band: 5q13.2
Quick LinksEntrez ID:64087; OMIM: 609014; Uniprot ID:MCCB_HUMAN; ENSEMBL ID: ENSG00000131844; HGNC ID: 6937
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCCC2|64087|nucleotide
ATGTGGGCCGTCCTGAGGTTAGCCCTGCGGCCGTGTGCCCGCGCCTCTCCCGCCGGGCCGCGCGCCTATCACGGGGACTCGGTGGCCTCGCTGGGCACCCAGCCG
GACTTGGGCTCTGCCCTCTACCAGGAGAACTACAAGCAGATGAAAGCACTAGTAAATCAGCTCCATGAACGAGTGGAGCATATAAAACTAGGAGGTGGTGAGAAA
GCCCGAGCACTTCACATATCAAGAGGAAAACTATTGCCCAGAGAAAGAATTGACAATCTCATAGACCCAGGGTCTCCATTTCTGGAATTATCCCAGTTTGCAGGT
TACCAGTTATATGACAATGAGGAGGTGCCAGGAGGTGGCATTATTACAGGCATTGGAAGAGTATCAGGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTC
AAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACTTAGTTGATTCGGGAGGA
GCATACTTACCTCGACAAGCAGATGTGTTTCCAGATCGAGACCACTTTGGCCGTACATTCTATAATCAGGCAATTATGTCTTCTAAAAATATTGCACAGATCGCA
GTGGTCATGGGCTCCTGCACCGCAGGAGGAGCCTATGTGCCTGCCATGGCTGATGAAAACATCATTGTACGCAAGCAGGGTACCATTTTCTTGGCAGGACCCCCC
TTGGTTAAAGCGGCAACTGGGGAAGAAGTATCTGCTGAGGATCTTGGAGGTGCTGATCTTCATTGCAGAAAGTCTGGAGTAAGTGACCACTGGGCTTTGGATGAT
CATCATGCCCTTCACTTAACTAGGAAGGTTGTGAGGAATCTAAATTATCAGAAGAAATTGGATGTCACCATTGAACCTTCTGAAGAGCCTTTATTTCCTGCTGAT
GAATTGTATGGAATAGTTGGTGCTAACCTTAAGAGGAGCTTTGATGTCCGAGAGGTCATTGCTAGAATCGTGGATGGAAGCAGATTCACTGAGTTCAAAGCCTTT
TATGGAGACACATTAGTTACAGGATTTGCTCGAATATTTGGGTACCCAGTAGGTATCGTTGGAAACAACGGAGTTCTCTTTTCTGAATCTGCAAAAAAGGGTACT
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>MCCC2|64087|protein
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLELSQFAG
YQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIAMQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIA
VVMGSCTAGGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPAD
ELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAK
DGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSAR
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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