Evidence Details for POLD2
Basic Information Top
| Gene Symbol: | POLD2 ( - ) |
|---|---|
| Gene Full Name: | polymerase (DNA directed), delta 2, regulatory subunit 50kDa |
| Band: | 7p13 |
| Quick Links | Entrez ID:5425; OMIM: 600815; Uniprot ID:DPOD2_HUMAN; ENSEMBL ID: ENSG00000106628; HGNC ID: 9176 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POLD2|5425|nucleotide
ATGTTTTCTGAGCAGGCTGCCCAGAGGGCCCACACTCTACTGTCCCCACCATCAGCCAACAATGCCACCTTTGCCCGGGTGCCAGTGGCAACCTACACCAACTCC
TCACAACCCTTCCGGCTAGGAGAGCGCAGCTTTAGCCGGCAGTATGCCCACATTTATGCCACCCGCCTCATCCAAATGAGACCCTTCCTGGAGAACCGGGCCCAG
CAGCACTGGGGCAGTGGAGTGGGAGTGAAGAAGCTGTGTGAACTGCAGCCTGAGGAGAAGTGCTGTGTGGTGGGCACTCTGTTCAAGGCCATGCCGCTGCAGCCC
TCCATCCTGCGGGAGGTCAGCGAGGAGCACAACCTGCTCCCCCAGCCTCCTCGGAGTAAATACATACACCCAGATGACGAGCTGGTCTTGGAAGATGAACTGCAG
CGTATCAAACTAAAAGGCACCATTGACGTGTCAAAGCTGGTTACGGGGACTGTCCTGGCTGTGTTTGGCTCCGTGAGAGACGACGGGAAGTTTCTGGTGGAGGAC
TATTGCTTTGCTGACCTTGCTCCCCAGAAGCCCGCACCCCCACTTGACACAGATAGGTTTGTGCTACTGGTGTCCGGCCTGGGCCTGGGTGGCGGTGGAGGCGAG
AGCCTGCTGGGCACCCAGCTGCTGGTGGATGTGGTGACGGGGCAGCTTGGGGACGAAGGGGAGCAGTGCAGCGCCGCCCACGTCTCCCGGGTTATCCTCGCTGGC
AACCTCCTCAGCCACAGCACCCAGAGCAGGGATTCTATCAATAAGGCCAAATACCTCACCAAGAAAACCCAGGCAGCCAGCGTGGAGGCTGTTAAGATGCTGGAT
GAGATCCTCCTGCAGCTGAGCGCCTCAGTGCCCGTGGACGTGATGCCAGGCGAGTTTGATCCCACCAATTACACGCTCCCCCAGCAGCCCCTCCACCCCTGCATG
TTCCCGCTGGCCACTGCCTACTCCACGCTCCAGCTGGTCACCAACCCCTACCAGGCCACCATTGATGGAGTCAGATTTTTGGGGACATCAGGACAGAACGTGAGT
GACATTTTCCGATACAGCAGCATGGAGGATCACTTGGAGATCCTGGAGTGGACCCTGCGGGTCCGTCACATCAGCCCCACAGCCCCTGACACTCTAGGTTGTTAC
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ATGTTTTCTGAGCAGGCTGCCCAGAGGGCCCACACTCTACTGTCCCCACCATCAGCCAACAATGCCACCTTTGCCCGGGTGCCAGTGGCAACCTACACCAACTCC
TCACAACCCTTCCGGCTAGGAGAGCGCAGCTTTAGCCGGCAGTATGCCCACATTTATGCCACCCGCCTCATCCAAATGAGACCCTTCCTGGAGAACCGGGCCCAG
CAGCACTGGGGCAGTGGAGTGGGAGTGAAGAAGCTGTGTGAACTGCAGCCTGAGGAGAAGTGCTGTGTGGTGGGCACTCTGTTCAAGGCCATGCCGCTGCAGCCC
TCCATCCTGCGGGAGGTCAGCGAGGAGCACAACCTGCTCCCCCAGCCTCCTCGGAGTAAATACATACACCCAGATGACGAGCTGGTCTTGGAAGATGAACTGCAG
CGTATCAAACTAAAAGGCACCATTGACGTGTCAAAGCTGGTTACGGGGACTGTCCTGGCTGTGTTTGGCTCCGTGAGAGACGACGGGAAGTTTCTGGTGGAGGAC
TATTGCTTTGCTGACCTTGCTCCCCAGAAGCCCGCACCCCCACTTGACACAGATAGGTTTGTGCTACTGGTGTCCGGCCTGGGCCTGGGTGGCGGTGGAGGCGAG
AGCCTGCTGGGCACCCAGCTGCTGGTGGATGTGGTGACGGGGCAGCTTGGGGACGAAGGGGAGCAGTGCAGCGCCGCCCACGTCTCCCGGGTTATCCTCGCTGGC
AACCTCCTCAGCCACAGCACCCAGAGCAGGGATTCTATCAATAAGGCCAAATACCTCACCAAGAAAACCCAGGCAGCCAGCGTGGAGGCTGTTAAGATGCTGGAT
GAGATCCTCCTGCAGCTGAGCGCCTCAGTGCCCGTGGACGTGATGCCAGGCGAGTTTGATCCCACCAATTACACGCTCCCCCAGCAGCCCCTCCACCCCTGCATG
TTCCCGCTGGCCACTGCCTACTCCACGCTCCAGCTGGTCACCAACCCCTACCAGGCCACCATTGATGGAGTCAGATTTTTGGGGACATCAGGACAGAACGTGAGT
GACATTTTCCGATACAGCAGCATGGAGGATCACTTGGAGATCCTGGAGTGGACCCTGCGGGTCCGTCACATCAGCCCCACAGCCCCTGACACTCTAGGTTGTTAC
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>POLD2|5425|protein
MFSEQAAQRAHTLLSPPSANNATFARVPVATYTNSSQPFRLGERSFSRQYAHIYATRLIQMRPFLENRAQQHWGSGVGVKKLCELQPEEKCCVVGTLFKAMPLQP
SILREVSEEHNLLPQPPRSKYIHPDDELVLEDELQRIKLKGTIDVSKLVTGTVLAVFGSVRDDGKFLVEDYCFADLAPQKPAPPLDTDRFVLLVSGLGLGGGGGE
SLLGTQLLVDVVTGQLGDEGEQCSAAHVSRVILAGNLLSHSTQSRDSINKAKYLTKKTQAASVEAVKMLDEILLQLSASVPVDVMPGEFDPTNYTLPQQPLHPCM
FPLATAYSTLQLVTNPYQATIDGVRFLGTSGQNVSDIFRYSSMEDHLEILEWTLRVRHISPTAPDTLGCYPFYKTDPFIFPECPHVYFCGNTPSFGSKIIRGPED
QTVLLVTVPDFSATQTACLVNLRSLACQPISFSGFGAEDDDLGGLGLGP
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MFSEQAAQRAHTLLSPPSANNATFARVPVATYTNSSQPFRLGERSFSRQYAHIYATRLIQMRPFLENRAQQHWGSGVGVKKLCELQPEEKCCVVGTLFKAMPLQP
SILREVSEEHNLLPQPPRSKYIHPDDELVLEDELQRIKLKGTIDVSKLVTGTVLAVFGSVRDDGKFLVEDYCFADLAPQKPAPPLDTDRFVLLVSGLGLGGGGGE
SLLGTQLLVDVVTGQLGDEGEQCSAAHVSRVILAGNLLSHSTQSRDSINKAKYLTKKTQAASVEAVKMLDEILLQLSASVPVDVMPGEFDPTNYTLPQQPLHPCM
FPLATAYSTLQLVTNPYQATIDGVRFLGTSGQNVSDIFRYSSMEDHLEILEWTLRVRHISPTAPDTLGCYPFYKTDPFIFPECPHVYFCGNTPSFGSKIIRGPED
QTVLLVTVPDFSATQTACLVNLRSLACQPISFSGFGAEDDDLGGLGLGP
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 4 (3) |
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 | ||||||
| Wolpert, 2001 | - | FISH |  |  | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top