Evidence Details for PABPC1L2A
Basic Information Top
| Gene Symbol: | PABPC1L2A ( MGC168104,PABPC1L2B,RBM32A ) |
|---|---|
| Gene Full Name: | poly(A) binding protein, cytoplasmic 1-like 2A |
| Band: | Xq13.2 |
| Quick Links | Entrez ID:340529; OMIM: NA; Uniprot ID:PAP1M_HUMAN; ENSEMBL ID: ENSG00000186288; HGNC ID: 27989 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PABPC1L2A|340529|nucleotide
ATGGCCTCCCTGTACGTGGGCGACCTGCACCCTGAGGTGACCGAGGCAATGCTGTACGAGAAGTTCAGTCCAGCTGGGCCCATCCTCTCCATCCGCATCTGCAGG
GACAAGATCACCCGCCGCTCATTGGGCTACGCGTATGTCAACTACCAGCAACCGGTGGACGCCAAGCGGGCCCTGGAGACCCTGAACTTTGATGTCATAAAGGGC
AGGCCAGTGCGCATCATGTGGTCCCAGAGGGACCCGTCGCTCCGCAAGAGCGGGGTGGGCAACGTCTTCATCAAGAACCTGGGCAAGACCATCGACAACAAGGCG
CTGTACAACATCTTCTCGGCGTTCGGCAACATCCTCTCCTGCAAAGTGGCCTGTGACGAAAAGGGGCCCAAGGGCTACGGGTTCGTGCACTTCCAAAAGCAGGAA
TCTGCGGAGCGGGCCATCGATGTGATGAATGGCATGTTCCTGAACTACCGCAAAATTTTCGTCGGGAGATTCAAGTCGCATAAAGAACGAGAGGCCGAAAGGGGA
GCCTGGGCCAGGCAGTCCACTAGTGCTGACGTCAAGGATTTCGAGGAAGACACCGACGAGGAGGCCACCTTGCGATGA
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ATGGCCTCCCTGTACGTGGGCGACCTGCACCCTGAGGTGACCGAGGCAATGCTGTACGAGAAGTTCAGTCCAGCTGGGCCCATCCTCTCCATCCGCATCTGCAGG
GACAAGATCACCCGCCGCTCATTGGGCTACGCGTATGTCAACTACCAGCAACCGGTGGACGCCAAGCGGGCCCTGGAGACCCTGAACTTTGATGTCATAAAGGGC
AGGCCAGTGCGCATCATGTGGTCCCAGAGGGACCCGTCGCTCCGCAAGAGCGGGGTGGGCAACGTCTTCATCAAGAACCTGGGCAAGACCATCGACAACAAGGCG
CTGTACAACATCTTCTCGGCGTTCGGCAACATCCTCTCCTGCAAAGTGGCCTGTGACGAAAAGGGGCCCAAGGGCTACGGGTTCGTGCACTTCCAAAAGCAGGAA
TCTGCGGAGCGGGCCATCGATGTGATGAATGGCATGTTCCTGAACTACCGCAAAATTTTCGTCGGGAGATTCAAGTCGCATAAAGAACGAGAGGCCGAAAGGGGA
GCCTGGGCCAGGCAGTCCACTAGTGCTGACGTCAAGGATTTCGAGGAAGACACCGACGAGGAGGCCACCTTGCGATGA
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>PABPC1L2A|340529|protein
MASLYVGDLHPEVTEAMLYEKFSPAGPILSIRICRDKITRRSLGYAYVNYQQPVDAKRALETLNFDVIKGRPVRIMWSQRDPSLRKSGVGNVFIKNLGKTIDNKA
LYNIFSAFGNILSCKVACDEKGPKGYGFVHFQKQESAERAIDVMNGMFLNYRKIFVGRFKSHKEREAERGAWARQSTSADVKDFEEDTDEEATLR
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MASLYVGDLHPEVTEAMLYEKFSPAGPILSIRICRDKITRRSLGYAYVNYQQPVDAKRALETLNFDVIKGRPVRIMWSQRDPSLRKSGVGNVFIKNLGKTIDNKA
LYNIFSAFGNILSCKVACDEKGPKGYGFVHFQKQESAERAIDVMNGMFLNYRKIFVGRFKSHKEREAERGAWARQSTSADVKDFEEDTDEEATLR
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top