AutismKB 2.0

Evidence Details for HMGCS1


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Basic Information Top
Gene Symbol:HMGCS1 ( HMGCS,MGC90332 )
Gene Full Name: 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
Band: 5p12
Quick LinksEntrez ID:3157; OMIM: 142940; Uniprot ID:HMCS1_HUMAN; ENSEMBL ID: ENSG00000112972; HGNC ID: 5007
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HMGCS1|3157|nucleotide
ATGCCTGGATCACTTCCTTTGAATGCAGAAGCTTGCTGGCCAAAAGATGTGGGAATTGTTGCCCTTGAGATCTATTTTCCTTCTCAATATGTTGATCAAGCAGAG
TTGGAAAAATATGATGGTGTAGATGCTGGAAAGTATACCATTGGCTTGGGCCAGGCCAAGATGGGCTTCTGCACAGATAGAGAAGATATTAACTCTCTTTGCATG
ACTGTGGTTCAGAATCTTATGGAGAGAAATAACCTTTCCTATGATTGCATTGGGCGGCTGGAAGTTGGAACAGAGACAATCATCGACAAATCAAAGTCTGTGAAG
ACTAATTTGATGCAGCTGTTTGAAGAGTCTGGGAATACAGATATAGAAGGAATCGACACAACTAATGCATGCTATGGAGGCACAGCTGCTGTCTTCAATGCTGTT
AACTGGATTGAGTCCAGCTCTTGGGATGGACGGTATGCCCTGGTAGTTGCAGGAGATATTGCTGTATATGCCACAGGAAATGCTAGACCTACAGGTGGAGTTGGA
GCAGTAGCTCTGCTAATTGGGCCAAATGCTCCTTTAATTTTTGAACGAGGGCTTCGTGGGACACATATGCAACATGCCTATGATTTTTACAAGCCTGATATGCTA
TCTGAATATCCTATAGTAGATGGAAAACTCTCCATACAGTGCTACCTCAGTGCATTAGACCGCTGCTATTCTGTCTACTGCAAAAAGATCCATGCCCAGTGGCAG
AAAGAGGGAAATGATAAAGATTTTACCTTGAATGATTTTGGCTTCATGATCTTTCACTCACCATATTGTAAACTGGTTCAGAAATCTCTAGCTCGGATGTTGCTG
AATGACTTCCTTAATGACCAGAATAGAGATAAAAATAGTATCTATAGTGGCCTGGAAGCCTTTGGGGATGTTAAATTAGAAGACACCTACTTTGATAGAGATGTG
GAGAAGGCATTTATGAAGGCTAGCTCTGAACTCTTCAGTCAGAAAACAAAGGCATCTTTACTTGTATCAAATCAAAATGGAAATATGTACACATCTTCAGTATAT
GGTTCCCTTGCATCTGTTCTAGCACAGTACTCACCTCAGCAATTAGCAGGGAAGAGAATTGGAGTGTTTTCTTATGGTTCTGGTTTGGCTGCCACTCTGTACTCT
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>HMGCS1|3157|protein
MPGSLPLNAEACWPKDVGIVALEIYFPSQYVDQAELEKYDGVDAGKYTIGLGQAKMGFCTDREDINSLCMTVVQNLMERNNLSYDCIGRLEVGTETIIDKSKSVK
TNLMQLFEESGNTDIEGIDTTNACYGGTAAVFNAVNWIESSSWDGRYALVVAGDIAVYATGNARPTGGVGAVALLIGPNAPLIFERGLRGTHMQHAYDFYKPDML
SEYPIVDGKLSIQCYLSALDRCYSVYCKKIHAQWQKEGNDKDFTLNDFGFMIFHSPYCKLVQKSLARMLLNDFLNDQNRDKNSIYSGLEAFGDVKLEDTYFDRDV
EKAFMKASSELFSQKTKASLLVSNQNGNMYTSSVYGSLASVLAQYSPQQLAGKRIGVFSYGSGLAATLYSLKVTQDATPGSALDKITASLCDLKSRLDSRTGVAP
DVFAENMKLREDTHHLVNYIPQGSIDSLFEGTWYLVRVDEKHRRTYARRPTPNDDTLDEGVGLVHSNIATEHIPSPAKKVPRLPATAAEPEAAVISNGEH
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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