AutismKB 2.0

Evidence Details for MMRN1


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Basic Information Top
Gene Symbol:MMRN1 ( ECM,EMILIN4,GPIa*,MMRN )
Gene Full Name: multimerin 1
Band: 4q22.1
Quick LinksEntrez ID:22915; OMIM: 601456; Uniprot ID:MMRN1_HUMAN; ENSEMBL ID: ENSG00000138722; HGNC ID: 7178
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MMRN1|22915|nucleotide
ATGAAGGGGGCAAGATTATTTGTCCTTCTTTCTAGTTTATGGAGTGGGGGCATTGGGCTTAACAACAGTAAGCATTCTTGGACTATACCTGAGGATGGGAACTCT
CAGAAGACTATGCCTTCTGCTTCAGTTCCTCCAAATAAAATACAAAGTTTGCAAATACTGCCAACCACTCGGGTCATGTCGGCGGAGATAGCTACAACTCCAGAG
GCAAGAACTTCTGAAGACAGTCTTCTTAAATCAACACTGCCTCCCTCAGAAACAAGTGCACCTGCTGAGGGTGTGAGAAATCAAACTCTCACATCCACAGAGAAA
GCAGAAGGAGTGGTCAAGTTACAGAATCTTACCCTCCCAACCAACGCTAGCATCAAGTTCAATCCTGGAGCAGAATCAGTGGTCCTTTCCAATTCTACACTGAAA
TTTCTTCAGAGCTTTGCCAGAAAGTCAAATGAACAAGCAACTTCTCTAAACACAGTTGGAGGCACTGGAGGCATTGGAGGCGTTGGAGGCACTGGAGGCGTGGGA
AATCGAGCCCCACGGGAAACATACCTCAGCCGGGGTGACAGCAGTTCCAGCCAAAGAACTGACTACCAAAAATCAAATTTCGAAACAACTAGAGGAAAGAATTGG
TGTGCTTATGTACATACCAGGTTATCTCCCACAGTGATATTGGACAACCAGGTCACTTATGTCCCAGGTGGGAAAGGACCTTGTGGCTGGACCGGTGGATCCTGT
CCTCAGAGATCTCAGAAGATATCCAATCCTGTCTATAGGATGCAACATAAAATTGTCACCTCATTGGATTGGAGGTGCTGTCCTGGATACAGTGGGCCGAAATGT
CAACTAAGAGCCCAGGAACAGCAAAGTTTGATACACACCAACCAGGCTGAAAGTCATACAGCTGTTGGCAGAGGAGTAGCTGAGCAGCAGCAGCAGCAAGGCTGT
GGTGACCCAGAAGTGATGCAAAAAATGACTGATCAGGTGAACTACCAGGCAATGAAACTGACTCTTCTGCAGAAGAAGATTGACAATATTTCTTTGACTGTGAAT
GATGTAAGGAACACTTACTCCTCCCTAGAAGGAAAAGTCAGCGAAGATAAAAGCAGAGAATTTCAATCTCTTCTAAAAGGTCTAAAATCCAAAAGCATTAATGTA
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>MMRN1|22915|protein
MKGARLFVLLSSLWSGGIGLNNSKHSWTIPEDGNSQKTMPSASVPPNKIQSLQILPTTRVMSAEIATTPEARTSEDSLLKSTLPPSETSAPAEGVRNQTLTSTEK
AEGVVKLQNLTLPTNASIKFNPGAESVVLSNSTLKFLQSFARKSNEQATSLNTVGGTGGIGGVGGTGGVGNRAPRETYLSRGDSSSSQRTDYQKSNFETTRGKNW
CAYVHTRLSPTVILDNQVTYVPGGKGPCGWTGGSCPQRSQKISNPVYRMQHKIVTSLDWRCCPGYSGPKCQLRAQEQQSLIHTNQAESHTAVGRGVAEQQQQQGC
GDPEVMQKMTDQVNYQAMKLTLLQKKIDNISLTVNDVRNTYSSLEGKVSEDKSREFQSLLKGLKSKSINVLIRDIVREQFKIFQNDMQETVAQLFKTVSSLSEDL
ESTRQIIQKVNESVVSIAAQQKFVLVQENRPTLTDIVELRNHIVNVRQEMTLTCEKPIKELEVKQTHLEGALEQEHSRSILYYESLNKTLSKLKEVHEQLLSTEQ
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 3 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top