AutismKB 2.0

Evidence Details for HMMR


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Basic Information Top
Gene Symbol:HMMR ( CD168,IHABP,MGC119494,MGC119495,RHAMM )
Gene Full Name: hyaluronan-mediated motility receptor (RHAMM)
Band: 5q34
Quick LinksEntrez ID:3161; OMIM: 600936; Uniprot ID:HMMR_HUMAN; ENSEMBL ID: ENSG00000072571; HGNC ID: 5012
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HMMR|3161|nucleotide
ATGTCCTTTCCTAAGGCGCCCTTGAAACGATTCAATGACCCTTCTGGTTGTGCACCATCTCCAGGTGCTTATGATGTTAAAACTTTAGAAGTATTGAAAGGACCA
GTATCCTTTCAGAAATCACAAAGATTTAAACAACAAAAAGAATCTAAACAAAATCTTAATGTTGACAAAGATACTACCTTGCCTGCTTCAGCTAGAAAAGTTAAG
TCTTCGGAATCAAAGAAGGAATCTCAAAAGAATGATAAAGATTTGAAGATATTAGAGAAAGAGATTCGTGTTCTTCTACAGGAACGTGGTGCCCAGGACAGGCGG
ATCCAGGATCTGGAAACTGAGTTGGAAAAGATGGAAGCAAGGCTAAATGCTGCACTAAGGGAAAAAACATCTCTCTCTGCAAATAATGCTACACTGGAAAAACAA
CTTATTGAATTGACCAGGACTAATGAACTACTAAAATCTAAGTTTTCTGAAAATGGTAACCAGAAGAATTTGAGAATTCTAAGCTTGGAGTTGATGAAACTTAGA
AACAAAAGAGAAACAAAGATGAGGGGTATGATGGCTAAGCAAGAAGGCATGGAGATGAAGCTGCAGGTCACCCAAAGGAGTCTCGAAGAGTCTCAAGGGAAAATA
GCCCAACTGGAGGGAAAACTTGTTTCAATAGAGAAAGAAAAGATTGATGAAAAATCTGAAACAGAAAAACTCTTGGAATACATCGAAGAAATTAGTTGTGCTTCA
GATCAAGTGGAAAAATACAAGCTAGATATTGCCCAGTTAGAAGAAAATTTGAAAGAGAAGAATGATGAAATTTTAAGCCTTAAGCAGTCTCTTGAGGAGAATATT
GTTATATTATCTAAACAAGTAGAAGATCTAAATGTGAAATGTCAGCTGCTTGAAAAAGAAAAAGAAGACCATGTCAACAGGAATAGAGAACACAACGAAAATCTA
AATGCAGAGATGCAAAACTTAAAACAGAAGTTTATTCTTGAACAACAGGAACGTGAAAAGCTTCAACAAAAAGAATTACAAATTGATTCACTTCTGCAACAAGAG
AAAGAATTATCTTCGAGTCTTCATCAGAAGCTCTGTTCTTTTCAAGAGGAAATGGTTAAAGAGAAGAATCTGTTTGAGGAAGAATTAAAGCAAACACTGGATGAG
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>HMMR|3161|protein
MSFPKAPLKRFNDPSGCAPSPGAYDVKTLEVLKGPVSFQKSQRFKQQKESKQNLNVDKDTTLPASARKVKSSESKKESQKNDKDLKILEKEIRVLLQERGAQDRR
IQDLETELEKMEARLNAALREKTSLSANNATLEKQLIELTRTNELLKSKFSENGNQKNLRILSLELMKLRNKRETKMRGMMAKQEGMEMKLQVTQRSLEESQGKI
AQLEGKLVSIEKEKIDEKSETEKLLEYIEEISCASDQVEKYKLDIAQLEENLKEKNDEILSLKQSLEENIVILSKQVEDLNVKCQLLEKEKEDHVNRNREHNENL
NAEMQNLKQKFILEQQEREKLQQKELQIDSLLQQEKELSSSLHQKLCSFQEEMVKEKNLFEEELKQTLDELDKLQQKEEQAERLVKQLEEEAKSRAEELKLLEEK
LKGKEAELEKSSAAHTQATLLLQEKYDSMVQSLEDVTAQFESYKALTASEIEDLKLENSSLQEKAAKAGKNAEDVQHQILATESSNQEYVRMLLDLQTKSALKET
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top