Genomic Map
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Target Gene Details
Entrez Gene ID: | 261734 |
Gene Name: | nephronophthisis 4 |
Gene Aliases: |
POC10, SLSN4 |
Location: |
Chr.1:5862808-5992473 on Build GRCh38 |
Assay Gene Location: | Within Exon 32 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| NPHP4 | NM_001291593.1 | 24 | 3703 | NP_001278522.1 |
| NM_001291594.1 | 23 | 3526 | NP_001278523.1 | |
| NM_015102.4 | 27 | 4013 | NP_055917.1 | |
| NR_111987.1 | 30 | 4560 | ||
| XM_006710563.3 | 27 | 3859 | XP_006710626.1 | |
| XM_011541213.1 | 26 | 3780 | XP_011539515.1 | |
| XM_011541214.1 | 26 | 3741 | XP_011539516.1 | |
| XM_011541215.1 | 25 | 3672 | XP_011539517.1 | |
| XM_011541216.2 | 28 | 4487 | XP_011539518.1 | |
| XM_011541217.2 | 27 | 4351 | XP_011539519.1 | |
| XM_011541218.2 | 28 | 4020 | XP_011539520.1 | |
| XM_017000996.1 | 26 | 3738 | XP_016856485.1 | |
| XM_017000997.1 | 27 | 4282 | XP_016856486.1 | |
| XM_017000998.1 | XP_016856487.1 | |||
| XM_017000999.1 | 27 | 3778 | XP_016856488.1 | |
| XM_017001000.1 | 26 | 3611 | XP_016856489.1 | |
| XM_017001001.1 | 21 | 3050 | XP_016856490.1 | |
| XM_017001003.1 | 19 | 2841 | XP_016856492.1 | |
| AB014573.1 | 22 | 3113 | BAA31648.1 | |
| AF537130.1 | 27 | 4011 | AAN06814.1 | |
| AK124074.1 | 23 | 3479 | ||
| AK127333.1 | 3 | 2008 | BAC86935.1 | |
| AK314326.1 | 24 | 3677 | ||
| AY118228.1 | 27 | 3948 | AAM78558.1 | |
| BC040520.1 | 30 | 4561 | AAH40520.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv545173 | Chr.1:5833391 - 6025293 on Build GRCh38 | Gain |
 NPHP4
KCNAB2
MIR4689
|
| nsv508723 | Chr.1:5777215 - 5971948 on Build GRCh38 | Insertion |
NPHP4
MIR4689
|
| nsv545174 | Chr.1:5844658 - 5971884 on Build GRCh38 | Loss |
NPHP4
MIR4689
|
| nsv831203 | Chr.1:5830030 - 5967902 on Build GRCh38 | Loss |
NPHP4
MIR4689
|
| esv2737584 | Chr.1:5865192 - 5865645 on Build GRCh38 | Deletion |
NPHP4
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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