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: | Within Exon 2 |
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 | |||
XM_005259597.2 | 1 | 546 | XP_005259654.1 | |
XM_005259598.2 | 1 | 546 | XP_005259655.1 | |
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 |
---|---|---|---|
esv3643372 | Chr.19:794878 - 807625 on Build GRCh38 | Gain | PTBP1 MIR4745 |
dgv134n111 | Chr.19:607984 - 967584 on Build GRCh38 | Deletion | PALM PTBP1 RNU6-9 PRSS57 PRTN3 MIR4745 MIR3187 KISS1R ELANE ARID3A MED16 R3HDM4 LOC101928450 PLPPR3 CFD RNF126 FSTL3 MISP FGF22 HCN2 POLRMT AZU1 |
nsv828353 | Chr.19:775335 - 812296 on Build GRCh38 | Loss | LOC101928450 PTBP1 MIR4745 |
nsv578167 | Chr.19:797079 - 850574 on Build GRCh38 | Loss | PLPPR3 PTBP1 PRTN3 MIR4745 MIR3187 AZU1 |
nsv828354 | Chr.19:796933 - 815173 on Build GRCh38 | Gain | PLPPR3 PTBP1 MIR4745 MIR3187 |
esv3893155 | Chr.19:725939 - 804013 on Build GRCh38 | Gain | LOC101928450 PALM PTBP1 MISP |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | ODF3L2 CDC34 CNN2 PTBP1 LOC105372235 THEG GPX4 MIR4745 SHC2 WDR18 ARID3A R3HDM4 PLPPR3 CFD C2CD4C MISP HCN2 POLRMT TPGS1 GRIN3B TMEM259 PALM RNU6-9 PRSS57 PRTN3 MIR3187 KISS1R ELANE MED16 LOC101928450 RNU6-2 BSG RNF126 FSTL3 ARHGAP45 GZMM ABCA7 MADCAM1 FGF22 POLR2E AZU1 |
esv3643364 | Chr.19:724133 - 803706 on Build GRCh38 | Gain | LOC101928450 PALM PTBP1 MISP |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | ODF3L2 CDC34 PTBP1 LOC105372235 MIR4745 SHC2 WDR18 ARID3A R3HDM4 PLPPR3 CFD C2CD4C MISP HCN2 POLRMT TPGS1 GRIN3B PALM RNU6-9 PRSS57 PRTN3 MIR3187 KISS1R ELANE MED16 LOC101928450 BSG RNF126 FSTL3 GZMM MADCAM1 FGF22 AZU1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |