Genomic Feature
pt32a
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 6: 28019254 - 28019299 (GRCz11) (1) Details
- Nucleotide change
- TGCTCTGCCTCCCTCTGCTGCTGCTGCTGCACCGGGTCAGGCTTCC/CA
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 2 bp inserted / 46 bp deleted in Exon 2 (1)
- Transcript Consequence
- None
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
GCTAGTGTTTATCGCGCATTTAACGTTAGTAATTATTATGTTTAAAGTCGGATTATGTTTAATTATTTACGAAATAAAGGCGAATGGAGATGCATTTTATCTGTTTGTGATGCATCGATTGTAGTTTTTTGTTGGTTTATTTCGATCGTGTTTTTGTATGCGGACACATGATCATACATGTGCTTTACTCTGTTGTTGTGTTGAGTTTGGATCTCAAACATTGCCCCTGAACGAGGCCACAAACGCTCATGTACAACCAGCCCTAGTTAGACACACAATAATACAAATCAAATCGGAATAATTAGGATTGAATAGCGCAGGCGGGTTGGAAGTAAACTGTCGGGCAGTGGCCCTCAAGAAGTGAGCTCACGTATATGTTCTTAAGCACACTGACTGTAGCTCTTTTTGAAGTATGATGTATTCAGTGGACTTCAAGACTGCGCTTGTTGTTTTTTCTTGGCTGACAGACAGAAGATGAGTTCTCAGCAGTTTCCTCGAGC
TGCTCTGCCTCCCTCTGCTGCTGCTGCTGCACCGGGTCAGGCTTCC/CA GCAGACAGCAGCGGTGCAGGAACACATTCAGGTAGGAGGATAGTGATACACCACTCCAATTATTTGCTCATAGTAATAATGTTCTAATACTAAGTTACAAGTAATGTGTTGCACATATATACAATGGTTAAGCAAAGTTTTTTTTAACACGCAGTTGTTAATTCGGAACAATTTATTTATGCTCATCATAATTTTAAAGGGTTCCTATTTTGCCGCTTTTTAACAACAACAACAACAACAAAAAAAAATAGACATTTGGTTTCTGCAGCATGTGTTTGAGAAGTGTCATCTCAAAATTACAACAACATACAAAAGTAGTTTCCCATAAATGTATGTCAAAAAAGGATACATATTTTCATCTTTAATTTAGCCAAGTGTTATCCCTTTTTTTACTGTAATCTAATCCAGAAACTTTTGTTTTTTGATTACTTTTACAAACTTGTTGTGCATACCTTTTAAGTCTCTTGCCAAACAAGTCCATTGTCCAAAATATGGAGATT - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
sap130apt32a/pt32a | Homozygous | ♀+/- ♂+/- | 2 figures from Liu et al., 2017 | ||
sap130apt32a/pt32a | Homozygous | ♀-/- | 3 figures ![]() | FIGURE 3 ![]() | |
sap130apt32a/pt32a; fb9Tg | Complex | ||||
sap130apt32a/pt32a; pt40aTg | Complex | FIGURE 7 ![]() | |||
sap130apt32a/pt32a; twu34Tg | Complex | 5 figures ![]() | |||
hdac1b382/+; sap130apt32a/pt32a; twu34Tg | Complex | FIGURE 9 ![]() | |||
sap130apt32a/pt32a; sap130bpt35b/pt35b | Complex | 2 figures ![]() | |||
sap130apt32a/pt32a; sap130bpt35b/+; twu34Tg | Complex | FIGURE 2 ![]() |
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Supplemental Information
- Genotyping protocol
- None
- DeMoya, R.A., Forman-Rubinsky, R.E., Fontaine, D., Shin, J., Watkins, S.C., Lo, C.W., Tsang, M. (2023) Sin3a associated protein 130 kDa, sap130, plays an evolutionary conserved role in zebrafish heart development. Frontiers in cell and developmental biology. 11:11971091197109
- Liu, X., Yagi, H., Saeed, S., Bais, A.S., Gabriel, G.C., Chen, Z., Peterson, K.A., Li, Y., Schwartz, M.C., Reynolds, W.T., Saydmohammed, M., Gibbs, B., Wu, Y., Devine, W., Chatterjee, B., Klena, N.T., Kostka, D., de Mesy Bentley, K.L., Ganapathiraju, M.K., Dexheimer, P., Leatherbury, L., Khalifa, O., Bhagat, A., Zahid, M., Pu, W., Watkins, S., Grossfeld, P., Murray, S.A., Porter, G.A., Tsang, M., Martin, L.J., Woodrow Benson, D., Aronow, B.J., Lo, C.W. (2017) The complex genetics of hypoplastic left heart syndrome. Nature Genetics. 49(7):1152-1159
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