AutismKB 2.0

Evidence Details for HMGCLL1


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Basic Information Top
Gene Symbol:HMGCLL1 ( DKFZp434G1411,bA418P12.1 )
Gene Full Name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1
Band: 6p12.1
Quick LinksEntrez ID:54511; OMIM: NA; Uniprot ID:HMGC2_HUMAN; ENSEMBL ID: ENSG00000146151; HGNC ID: 21359
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HMGCLL1|54511|nucleotide
ATGGGGAATGTGCCATCCGCGGTGAAGCACTGCCTCAGCTACCAGCAGCTTCTCCGGGAGCATCTCTGGATCGGGGATTCAGTGGCAGGGGCGCTCGACCCCGCG
CAGGAAACATCCCAGTTATCTGGACTCCCTGAGTTTGTTAAAATAGTAGAAGTTGGGCCTAGGGATGGATTGCAGAATGAAAAGGTTATAGTTCCTACAGATATA
AAAATTGAATTTATCAATCGACTTTCCCAAACTGGCTTGTCTGTAATAGAAGTGACTAGCTTTGTGTCTTCCAGATGGGTACCACAGATGGCTGATCACACTGAA
GTAATGAAAGGCATTCATCAATATCCAGGAGTTCGCTATCCTGTCCTTACTCCTAATCTTCAGGGTTTTCACCATGCTGTTGCTGCTGGAGCTACTGAGATATCA
GTTTTTGGAGCTGCATCTGAATCCTTTAGCAAGAAGAATATTAACTGTTCCATTGAAGAAAGTATGGGAAAATTTGAGGAGGTTGTTAAGTCTGCAAGACACATG
AATATTCCAGCACGAGGGTATGTGTCTTGTGCTCTGGGCTGTCCATATGAAGGAAGTATTACACCGCAAAAAGTGACAGAAGTGTCTAAGAGATTGTACGGCATG
GGTTGTTATGAGATCTCTCTAGGAGACACAATTGGAGTGGGAACTCCAGGAAGTATGAAAAGAATGTTGGAAAGTGTGATGAAAGAAATCCCACCAGGTGCTCTT
GCTGTTCACTGTCATGACACATACGGACAAGCCTTAGCAAATATCCTTACGGCCCTTCAGATGGGAATTAATGTGGTGGACTCCGCAGTATCCGGATTAGGTGGC
TGCCCTTATGCAAAAGGTGCTTCTGGGAATGTAGCCACTGAGGATTTGATATATATGCTTAATGGCCTGGGGCTCAATACAGGTGTGAATCTATACAAAGTGATG
GAAGCTGGTGACTTTATTTGCAAAGCTGTGAATAAAACCACAAACTCTAAAGTAGCACAAGCCTCCTTCAATGCTTGA

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>HMGCLL1|54511|protein
MGNVPSAVKHCLSYQQLLREHLWIGDSVAGALDPAQETSQLSGLPEFVKIVEVGPRDGLQNEKVIVPTDIKIEFINRLSQTGLSVIEVTSFVSSRWVPQMADHTE
VMKGIHQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEESMGKFEEVVKSARHMNIPARGYVSCALGCPYEGSITPQKVTEVSKRLYGM
GCYEISLGDTIGVGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTALQMGINVVDSAVSGLGGCPYAKGASGNVATEDLIYMLNGLGLNTGVNLYKVM
EAGDFICKAVNKTTNSKVAQASFNA

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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 (1) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top