Evidence Details for MTUS1
Basic Information Top
Gene Symbol: | MTUS1 ( ATBP,ATIP,DKFZp586D1519,DKFZp686F20243,FLJ14295,KIAA1288,MP44,MTSG1 ) |
---|---|
Gene Full Name: | microtubule associated tumor suppressor 1 |
Band: | 8p22 |
Quick Links | Entrez ID:57509; OMIM: 609589; Uniprot ID:MTUS1_HUMAN; ENSEMBL ID: ENSG00000129422; HGNC ID: 29789 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MTUS1|57509|nucleotide
ATGACTGATGATAATTCAGATGATAAAATAGAAGATGAATTGCAAACCTTCTTTACCAGTGATAAAGATGGAAATACACATGCATACAACCCGAAATCACCACCT
ACACAAAACTCTTCAGCCAGCAGTGTGAACTGGAATTCTGCCAACCCAGATGACATGGTGGTTGATTATGAAACTGACCCTGCTGTAGTTACTGGTGAAAATATT
TCTTTAAGCCTTCAGGGTGTTGAAGTATTTGGTCATGAAAAGTCTTCTAGTGATTTCATTAGTAAGCAGGTGTTAGATATGCATAAAGATTCTATTTGTCAGTGT
CCTGCACTTGTAGGTACTGAGAAGCCCAAATATCTGCAACACAGTTGTCATTCCCTAGAAGCAGTTGAGGGCCAGAGTGTTGAGCCATCTTTGCCTTTTGTGTGG
AAGCCTAATGACAATTTGAACTGTGCAGGCTACTGTGATGCCTTGGAGCTAAACCAAACATTTGACATGACAGTGGATAAAGTTAACTGCACCTTTATATCACAT
CATGCCATCGGAAAGAGTCAGTCCTTCCATACTGCTGGAAGCCTGCCACCAACTGGTAGGAGAAGTGGAAGTACATCTTCTTTATCCTATTCCACTTGGACATCT
TCCCATTCTGATAAGACGCATGCAAGAGAAACTACTTATGATAGAGAAAGCTTTGAAAACCCTCAAGTCACACCATCAGAAGCCCAAGACATGACTTACACAGCA
TTTTCTGATGTGGTGATGCAAAGTGAGGTTTTTGTTTCAGATATTGGAAATCAGTGTGCATGTTCTTCAGGAAAGGTCACCAGTGAGTACACAGATGGATCACAA
CAAAGACTAGTTGGAGAAAAGGAGACACAAGCACTAACACCAGTTTCTGATGGCATGGAAGTCCCCAATGATTCTGCATTACAAGAGTTCTTTTGTTTATCCCAT
GATGAATCCAATAGCGAACCACATTCACAGAGCTCATACAGGCACAAGGAAATGGGCCAAAATCTGAGAGAGACAGTGTCCTATTGTCTTATTGATGATGAATGC
CCTTTAATGGTGCCAGCTTTTGATAAGAGCGAAGCTCAAGTGCTGAACCCAGAGCATAAAGTCACTGAGACTGAAGACACACAAATGGTCTCCAAAGGAAAGGAT
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ATGACTGATGATAATTCAGATGATAAAATAGAAGATGAATTGCAAACCTTCTTTACCAGTGATAAAGATGGAAATACACATGCATACAACCCGAAATCACCACCT
ACACAAAACTCTTCAGCCAGCAGTGTGAACTGGAATTCTGCCAACCCAGATGACATGGTGGTTGATTATGAAACTGACCCTGCTGTAGTTACTGGTGAAAATATT
TCTTTAAGCCTTCAGGGTGTTGAAGTATTTGGTCATGAAAAGTCTTCTAGTGATTTCATTAGTAAGCAGGTGTTAGATATGCATAAAGATTCTATTTGTCAGTGT
CCTGCACTTGTAGGTACTGAGAAGCCCAAATATCTGCAACACAGTTGTCATTCCCTAGAAGCAGTTGAGGGCCAGAGTGTTGAGCCATCTTTGCCTTTTGTGTGG
AAGCCTAATGACAATTTGAACTGTGCAGGCTACTGTGATGCCTTGGAGCTAAACCAAACATTTGACATGACAGTGGATAAAGTTAACTGCACCTTTATATCACAT
CATGCCATCGGAAAGAGTCAGTCCTTCCATACTGCTGGAAGCCTGCCACCAACTGGTAGGAGAAGTGGAAGTACATCTTCTTTATCCTATTCCACTTGGACATCT
TCCCATTCTGATAAGACGCATGCAAGAGAAACTACTTATGATAGAGAAAGCTTTGAAAACCCTCAAGTCACACCATCAGAAGCCCAAGACATGACTTACACAGCA
TTTTCTGATGTGGTGATGCAAAGTGAGGTTTTTGTTTCAGATATTGGAAATCAGTGTGCATGTTCTTCAGGAAAGGTCACCAGTGAGTACACAGATGGATCACAA
CAAAGACTAGTTGGAGAAAAGGAGACACAAGCACTAACACCAGTTTCTGATGGCATGGAAGTCCCCAATGATTCTGCATTACAAGAGTTCTTTTGTTTATCCCAT
GATGAATCCAATAGCGAACCACATTCACAGAGCTCATACAGGCACAAGGAAATGGGCCAAAATCTGAGAGAGACAGTGTCCTATTGTCTTATTGATGATGAATGC
CCTTTAATGGTGCCAGCTTTTGATAAGAGCGAAGCTCAAGTGCTGAACCCAGAGCATAAAGTCACTGAGACTGAAGACACACAAATGGTCTCCAAAGGAAAGGAT
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>MTUS1|57509|protein
MTDDNSDDKIEDELQTFFTSDKDGNTHAYNPKSPPTQNSSASSVNWNSANPDDMVVDYETDPAVVTGENISLSLQGVEVFGHEKSSSDFISKQVLDMHKDSICQC
PALVGTEKPKYLQHSCHSLEAVEGQSVEPSLPFVWKPNDNLNCAGYCDALELNQTFDMTVDKVNCTFISHHAIGKSQSFHTAGSLPPTGRRSGSTSSLSYSTWTS
SHSDKTHARETTYDRESFENPQVTPSEAQDMTYTAFSDVVMQSEVFVSDIGNQCACSSGKVTSEYTDGSQQRLVGEKETQALTPVSDGMEVPNDSALQEFFCLSH
DESNSEPHSQSSYRHKEMGQNLRETVSYCLIDDECPLMVPAFDKSEAQVLNPEHKVTETEDTQMVSKGKDLGTQNHTSELILSSPPGQKVGSSFGLTWDANDMVI
STDKTMCMSTPVLEPTKVTFSVSPIEATEKCKKVEKGNRGLKNIPDSKEAPVNLCKPSLGKSTIKTNTPIGCKVRKTEIISYPRPNFKNVKAKVMSRAVLQPKDA
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MTDDNSDDKIEDELQTFFTSDKDGNTHAYNPKSPPTQNSSASSVNWNSANPDDMVVDYETDPAVVTGENISLSLQGVEVFGHEKSSSDFISKQVLDMHKDSICQC
PALVGTEKPKYLQHSCHSLEAVEGQSVEPSLPFVWKPNDNLNCAGYCDALELNQTFDMTVDKVNCTFISHHAIGKSQSFHTAGSLPPTGRRSGSTSSLSYSTWTS
SHSDKTHARETTYDRESFENPQVTPSEAQDMTYTAFSDVVMQSEVFVSDIGNQCACSSGKVTSEYTDGSQQRLVGEKETQALTPVSDGMEVPNDSALQEFFCLSH
DESNSEPHSQSSYRHKEMGQNLRETVSYCLIDDECPLMVPAFDKSEAQVLNPEHKVTETEDTQMVSKGKDLGTQNHTSELILSSPPGQKVGSSFGLTWDANDMVI
STDKTMCMSTPVLEPTKVTFSVSPIEATEKCKKVEKGNRGLKNIPDSKEAPVNLCKPSLGKSTIKTNTPIGCKVRKTEIISYPRPNFKNVKAKVMSRAVLQPKDA
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 1 (2) | 0 (0) | 12 (8) |
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 | ||||||
Papanikolaou, 2006 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Ozgen, 2009 | - | aCGH, SNP microarray | ASD | 55 | - | - | - | - | - | - | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing | ||
Nebel RA, 2015 | - | Illumina HiSeq2000 | - | - | autism | 1 | - | - | 1 | Sanger sequencing |
Low Scale Gene Studies Top
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