Evidence Details for LSM14A
Basic Information Top
| Gene Symbol: | LSM14A ( C19orf13,DKFZp434D1335,FAM61A,RAP55,RAP55A ) |
|---|---|
| Gene Full Name: | LSM14A, SCD6 homolog A (S. cerevisiae) |
| Band: | 19q13.11 |
| Quick Links | Entrez ID:26065; OMIM: 610677; Uniprot ID:LS14A_HUMAN; ENSEMBL ID: ENSG00000105216; HGNC ID: 24489 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>LSM14A|26065|nucleotide
ATGAGCGGGGGCACCCCTTACATCGGCAGCAAGATCAGCCTCATCTCCAAGGCGGAGATCCGCTACGAGGGCATCCTCTACACCATCGACACCGAAAACTCCACC
GTAGCCCTTGCCAAAGTTCGATCCTTTGGTACAGAAGACAGACCGACAGATCGTCCAATACCACCTCGAGATGAAGTCTTTGAATACATTATATTCCGTGGGAGT
GACATTAAAGACCTTACTGTTTGTGAGCCACCAAAACCACAGTGTTCTTTGCCTCAAGACCCAGCTATTGTTCAGTCCTCACTAGGCTCATCGACTTCTTCATTC
CAGTCCATGGGTTCTTATGGACCTTTCGGCAGGATGCCCACATACAGTCAGTTCAGTCCGAGTTCCTTAGTTGGGCAGCAGTTTGGTGCTGTTGGTGTTGCTGGA
AGCTCTTTGACATCCTTTGGAACAGAAACATCAAACAGTGGTACCTTACCCCAAAGTAGTGCGGTTGGTTCTGCCTTTACACAGGATACAAGATCTCTAAAAACA
CAGTTATCTCAAGGTCGCTCAAGCCCTCAGTTAGACCCTTTGAGAAAAAGCCCAACCATGGAACAAGCAGTGCAGACCGCCTCAGCCCACTTACCTGCTCCAGCA
GCTGTTGGGAGAAGGAGTCCTGTATCAACCAGGCCTTTGCCATCTGCCAGCCAAAAGGCAGGAGAGAATCAGGAGCACAGGCGAGCTGAAGTACACAAAGTTTCA
AGGCCAGAAAATGAGCAACTCAGAAATGATAACAAGAGACAAGTAGCTCCAGGTGCTCCTTCAGCTCCAAGGAGAGGGCGTGGGGGTCATCGGGGTGGCAGGGGA
AGATTTGGTATTCGGCGAGATGGGCCAATGAAATTTGAGAAAGACTTTGACTTTGAAAGTGCAAATGCACAATTCAACAAGGAAGAGATTGACAGAGAGTTTCAT
AATAAACTTAAATTAAAAGAAGATAAACTTGAGAAACAGGAGAAGCCTGTAAATGGTGAAGATAAAGGAGACTCAGGAGTTGATACCCAAAACAGTGAAGGAAAT
GCCGATGAAGAAGATCCACTTGGACCTAATTGCTATTATGACAAAACTAAATCCTTCTTTGATAATATTTCTTGTGATGACAATAGAGAACGGAGACCAACCTGG
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ATGAGCGGGGGCACCCCTTACATCGGCAGCAAGATCAGCCTCATCTCCAAGGCGGAGATCCGCTACGAGGGCATCCTCTACACCATCGACACCGAAAACTCCACC
GTAGCCCTTGCCAAAGTTCGATCCTTTGGTACAGAAGACAGACCGACAGATCGTCCAATACCACCTCGAGATGAAGTCTTTGAATACATTATATTCCGTGGGAGT
GACATTAAAGACCTTACTGTTTGTGAGCCACCAAAACCACAGTGTTCTTTGCCTCAAGACCCAGCTATTGTTCAGTCCTCACTAGGCTCATCGACTTCTTCATTC
CAGTCCATGGGTTCTTATGGACCTTTCGGCAGGATGCCCACATACAGTCAGTTCAGTCCGAGTTCCTTAGTTGGGCAGCAGTTTGGTGCTGTTGGTGTTGCTGGA
AGCTCTTTGACATCCTTTGGAACAGAAACATCAAACAGTGGTACCTTACCCCAAAGTAGTGCGGTTGGTTCTGCCTTTACACAGGATACAAGATCTCTAAAAACA
CAGTTATCTCAAGGTCGCTCAAGCCCTCAGTTAGACCCTTTGAGAAAAAGCCCAACCATGGAACAAGCAGTGCAGACCGCCTCAGCCCACTTACCTGCTCCAGCA
GCTGTTGGGAGAAGGAGTCCTGTATCAACCAGGCCTTTGCCATCTGCCAGCCAAAAGGCAGGAGAGAATCAGGAGCACAGGCGAGCTGAAGTACACAAAGTTTCA
AGGCCAGAAAATGAGCAACTCAGAAATGATAACAAGAGACAAGTAGCTCCAGGTGCTCCTTCAGCTCCAAGGAGAGGGCGTGGGGGTCATCGGGGTGGCAGGGGA
AGATTTGGTATTCGGCGAGATGGGCCAATGAAATTTGAGAAAGACTTTGACTTTGAAAGTGCAAATGCACAATTCAACAAGGAAGAGATTGACAGAGAGTTTCAT
AATAAACTTAAATTAAAAGAAGATAAACTTGAGAAACAGGAGAAGCCTGTAAATGGTGAAGATAAAGGAGACTCAGGAGTTGATACCCAAAACAGTGAAGGAAAT
GCCGATGAAGAAGATCCACTTGGACCTAATTGCTATTATGACAAAACTAAATCCTTCTTTGATAATATTTCTTGTGATGACAATAGAGAACGGAGACCAACCTGG
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>LSM14A|26065|protein
MSGGTPYIGSKISLISKAEIRYEGILYTIDTENSTVALAKVRSFGTEDRPTDRPIPPRDEVFEYIIFRGSDIKDLTVCEPPKPQCSLPQDPAIVQSSLGSSTSSF
QSMGSYGPFGRMPTYSQFSPSSLVGQQFGAVGVAGSSLTSFGTETSNSGTLPQSSAVGSAFTQDTRSLKTQLSQGRSSPQLDPLRKSPTMEQAVQTASAHLPAPA
AVGRRSPVSTRPLPSASQKAGENQEHRRAEVHKVSRPENEQLRNDNKRQVAPGAPSAPRRGRGGHRGGRGRFGIRRDGPMKFEKDFDFESANAQFNKEEIDREFH
NKLKLKEDKLEKQEKPVNGEDKGDSGVDTQNSEGNADEEDPLGPNCYYDKTKSFFDNISCDDNRERRPTWAEERRLNAETFGIPLRPNRGRGGYRGRGGLGFRGG
RGRGGGRGGTFTAPRGFRGGFRGGRGGREFADFEYRKTTAFGP
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MSGGTPYIGSKISLISKAEIRYEGILYTIDTENSTVALAKVRSFGTEDRPTDRPIPPRDEVFEYIIFRGSDIKDLTVCEPPKPQCSLPQDPAIVQSSLGSSTSSF
QSMGSYGPFGRMPTYSQFSPSSLVGQQFGAVGVAGSSLTSFGTETSNSGTLPQSSAVGSAFTQDTRSLKTQLSQGRSSPQLDPLRKSPTMEQAVQTASAHLPAPA
AVGRRSPVSTRPLPSASQKAGENQEHRRAEVHKVSRPENEQLRNDNKRQVAPGAPSAPRRGRGGHRGGRGRFGIRRDGPMKFEKDFDFESANAQFNKEEIDREFH
NKLKLKEDKLEKQEKPVNGEDKGDSGVDTQNSEGNADEEDPLGPNCYYDKTKSFFDNISCDDNRERRPTWAEERRLNAETFGIPLRPNRGRGGYRGRGGLGFRGG
RGRGGGRGGTFTAPRGFRGGFRGGRGGREFADFEYRKTTAFGP
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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 |
Low Scale Gene Studies Top
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