Assay Details
Target Gene Details
Entrez Gene ID: | 5725 |
Gene Name: | polypyrimidine tract binding protein 1 |
Gene Aliases: |
HNRNP-I, HNRNPI, HNRPI, PTB, PTB-1, PTB-T, PTB2, PTB3, PTB4, pPTB |
Location: |
Chr.19:797392-812327 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTBP1 | NM_002819.4 | NP_002810.1 | ||
NM_031990.3 | NP_114367.1 | |||
NM_031991.3 | NP_114368.1 | |||
AB208910.1 | BAD92147.1 | |||
BC002397.2 | AAH02397.1 | |||
BC004383.1 | AAH04383.1 | |||
BC013694.1 | AAH13694.1 | |||
BQ068293.1 | ||||
X60648.1 | CAA43056.1 | |||
X62006.1 | CAA43973.1 | |||
X65371.1 | CAA46443.1 | |||
X65372.1 | CAA46444.1 | |||
X66975.1 | CAA47386.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1072833 | Chr.19:797399 - 798100 on Build GRCh38 | Deletion |
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esv3643372 | Chr.19:794878 - 807625 on Build GRCh38 | Gain |
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dgv134n111 | Chr.19:607984 - 967584 on Build GRCh38 | Deletion |
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nsv828353 | Chr.19:775335 - 812296 on Build GRCh38 | Loss |
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nsv578167 | Chr.19:797079 - 850574 on Build GRCh38 | Loss |
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nsv828354 | Chr.19:796933 - 815173 on Build GRCh38 | Gain |
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esv3893155 | Chr.19:725939 - 804013 on Build GRCh38 | Gain |
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nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion |
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nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss |
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esv3643364 | Chr.19:724133 - 803706 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)