Evidence Details for MTMR14
Basic Information Top
| Gene Symbol: | MTMR14 ( C3orf29,FLJ11546,FLJ22405,FLJ46453,FLJ90311 ) |
|---|---|
| Gene Full Name: | myotubularin related protein 14 |
| Band: | 3p25.3 |
| Quick Links | Entrez ID:64419; OMIM: 611089; Uniprot ID:MTMRE_HUMAN; ENSEMBL ID: ENSG00000163719; HGNC ID: 26190 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MTMR14|64419|nucleotide
ATGGCCGGCGCTCGGGCCGCCGCCGCCGCTGCCTCGGCGGGGTCCTCGGCCTCTTCAGGCAACCAGCCGCCTCAGGAGCTGGGGCTTGGGGAGCTGCTGGAGGAG
TTCTCCCGGACTCAGTACCGGGCCAAGGATGGCAGCGGGACCGGCGGCTCTAAGGTTGAGCGCATTGAGAAGAGATGTCTGGAGCTGTTTGGCCGAGACTACTGT
TTCAGCGTGATTCCAAACACGAATGGGGATATCTGTGGCCACTATCCCCGGCACATCGTGTTCCTGGAGTATGAGAGTTCTGAGAAGGAGAAAGACACGTTTGAG
AGTACCGTACAGGTGAGCAAGTTGCAAGACCTCATCCACCGCAGCAAGATGGCCCGGTGCAGAGGACGGTTTGTCTGCCCAGTAATCCTGTTCAAGGGCAAGCAC
ATTTGCAGGTCGGCCACACTGGCTGGATGGGGAGAGCTGTATGGACGCTCAGGCTACAACTATTTTTTCTCAGGGGGTGCAGATGATGCCTGGGCAGATGTGGAG
GACGTCACGGAGGAGGACTGTGCTCTTCGAAGTGGTGACACGCATCTTTTTGATAAGGTCAGAGGCTATGACATCAAGCTGCTTCGATACCTGTCAGTCAAATAC
ATCTGTGACCTGATGGTGGAGAACAAGAAGGTGAAGTTTGGCATGAATGTAACCTCCTCTGAGAAGGTGGACAAAGCCCAGCGCTATGCCGACTTCACTCTCCTC
TCCATCCCGTATCCAGGCTGTGAATTTTTCAAGGAATATAAAGATCGGGATTACATGGCAGAAGGGCTCATATTTAACTGGAAGCAGGACTACGTTGATGCCCCA
TTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGTGTTGGGATCTGGTGCAACAAACACAAAACTACCTGAAGCTGCTGCTT
TCCTTAGTTAACAGTGATGATGACAGCGGGCTGCTGGTACACTGTATCTCAGGCTGGGATCGGACCCCCCTCTTCATCTCCCTCCTGCGCCTTTCCTTGTGGGCT
GATGGGCTCATCCACACGTCCCTGAAGCCCACTGAGATCCTCTACCTCACTGTGGCCTATGACTGGTTCCTCTTCGGGCACATGTTGGTAGATCGGCTCAGCAAA
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ATGGCCGGCGCTCGGGCCGCCGCCGCCGCTGCCTCGGCGGGGTCCTCGGCCTCTTCAGGCAACCAGCCGCCTCAGGAGCTGGGGCTTGGGGAGCTGCTGGAGGAG
TTCTCCCGGACTCAGTACCGGGCCAAGGATGGCAGCGGGACCGGCGGCTCTAAGGTTGAGCGCATTGAGAAGAGATGTCTGGAGCTGTTTGGCCGAGACTACTGT
TTCAGCGTGATTCCAAACACGAATGGGGATATCTGTGGCCACTATCCCCGGCACATCGTGTTCCTGGAGTATGAGAGTTCTGAGAAGGAGAAAGACACGTTTGAG
AGTACCGTACAGGTGAGCAAGTTGCAAGACCTCATCCACCGCAGCAAGATGGCCCGGTGCAGAGGACGGTTTGTCTGCCCAGTAATCCTGTTCAAGGGCAAGCAC
ATTTGCAGGTCGGCCACACTGGCTGGATGGGGAGAGCTGTATGGACGCTCAGGCTACAACTATTTTTTCTCAGGGGGTGCAGATGATGCCTGGGCAGATGTGGAG
GACGTCACGGAGGAGGACTGTGCTCTTCGAAGTGGTGACACGCATCTTTTTGATAAGGTCAGAGGCTATGACATCAAGCTGCTTCGATACCTGTCAGTCAAATAC
ATCTGTGACCTGATGGTGGAGAACAAGAAGGTGAAGTTTGGCATGAATGTAACCTCCTCTGAGAAGGTGGACAAAGCCCAGCGCTATGCCGACTTCACTCTCCTC
TCCATCCCGTATCCAGGCTGTGAATTTTTCAAGGAATATAAAGATCGGGATTACATGGCAGAAGGGCTCATATTTAACTGGAAGCAGGACTACGTTGATGCCCCA
TTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGTGTTGGGATCTGGTGCAACAAACACAAAACTACCTGAAGCTGCTGCTT
TCCTTAGTTAACAGTGATGATGACAGCGGGCTGCTGGTACACTGTATCTCAGGCTGGGATCGGACCCCCCTCTTCATCTCCCTCCTGCGCCTTTCCTTGTGGGCT
GATGGGCTCATCCACACGTCCCTGAAGCCCACTGAGATCCTCTACCTCACTGTGGCCTATGACTGGTTCCTCTTCGGGCACATGTTGGTAGATCGGCTCAGCAAA
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>MTMR14|64419|protein
MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKDGSGTGGSKVERIEKRCLELFGRDYCFSVIPNTNGDICGHYPRHIVFLEYESSEKEKDTFE
STVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKHICRSATLAGWGELYGRSGYNYFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKY
ICDLMVENKKVKFGMNVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAPLSIPDFLTHSLNIDWSQYQCWDLVQQTQNYLKLLL
SLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWADGLIHTSLKPTEILYLTVAYDWFLFGHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARD
GGFTLEDICMLRRKDRGSTTSLGSDFSLVMESSPGATGSFTYEAVELVPAGAPTQAAWRKSHSSSPQSVLWNRPQPSEDRLPSQQGLAEARSSSSSSSNHSDNFF
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MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKDGSGTGGSKVERIEKRCLELFGRDYCFSVIPNTNGDICGHYPRHIVFLEYESSEKEKDTFE
STVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKHICRSATLAGWGELYGRSGYNYFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKY
ICDLMVENKKVKFGMNVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAPLSIPDFLTHSLNIDWSQYQCWDLVQQTQNYLKLLL
SLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWADGLIHTSLKPTEILYLTVAYDWFLFGHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARD
GGFTLEDICMLRRKDRGSTTSLGSDFSLVMESSPGATGSFTYEAVELVPAGAPTQAAWRKSHSSSPQSVLWNRPQPSEDRLPSQQGLAEARSSSSSSSNHSDNFF
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Evidence summary TopClick 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) | 0 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top