AutismKB 2.0

Evidence Details for CREM


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Basic Information Top
Gene Symbol:CREM ( ICER,MGC111110,MGC17881,MGC41893,hCREM-2 )
Gene Full Name: cAMP responsive element modulator
Band: 10p11.21
Quick LinksEntrez ID:1390; OMIM: 123812; Uniprot ID:CREM_HUMAN; ENSEMBL ID: ENSG00000095794; HGNC ID: 2352
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CREM|1390|nucleotide
ATGACCATGGAAACAGTTGAATCCCAGCATGATGGAAGTATAACAGCTTCTTTGACAGAGAGCAAGTCTGCTCATGTGCAGACTCAGACTGGCCAAAATTCAATC
CCTGCTTTAGCTCAGGTAGCAGCAATTGCAGAGACAGATGAATCTGCAGAATCAGAAGGTGTAATTGATTCTCATAAACGTAGAGAAATCCTTTCACGAAGACCC
TCTTATAGGAAAATACTGAATGAACTGTCCTCTGATGTGCCTGGTGTTCCCAAGATTGAAGAAGAGAGATCAGAGGAAGAAGGAACACCACCTAGTATTGCTACC
ATGGCAGTACCAACTAGCATATATCAGACTAGCACGGGGCAATACAGTATGTATGCTGCAATTCGATATGATACAGTGCTAGCTTTAAGTCTTCTCTAG







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>CREM|1390|protein
MTMETVESQHDGSITASLTESKSAHVQTQTGQNSIPALAQVAAIAETDESAESEGVIDSHKRREILSRRPSYRKILNELSSDVPGVPKIEEERSEEEGTPPSIAT
MAVPTSIYQTSTGQYSMYAAIRYDTVLALSLL



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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) 1 (1) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top