Genomic Map
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Target Gene Details
Entrez Gene ID: | 1497 |
Gene Name: | cystinosin, lysosomal cystine transporter |
Gene Aliases: |
CTNS-LSB, PQLC4 |
Location: |
Chr.17:3636391-3663103 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CTNS | NM_001031681.2 | NP_001026851.2 | ||
| NM_004937.2 | 1 | 318 | NP_004928.2 | |
| XM_005256485.2 | 1 | 318 | XP_005256542.1 | |
| XM_006721463.2 | XP_006721526.1 | |||
| XM_006721464.2 | 1 | 318 | XP_006721527.1 | |
| XM_011523691.2 | XP_011521993.1 | |||
| XM_011523692.2 | 1 | 318 | XP_011521994.1 | |
| XM_017024254.1 | 1 | 318 | XP_016879743.1 | |
| XM_017024255.1 | 1 | 318 | XP_016879744.1 | |
| XM_017024256.1 | 1 | 318 | XP_016879745.1 | |
| XM_017024257.1 | 1 | 318 | XP_016879746.1 | |
| XM_017024258.1 | 1 | 318 | XP_016879747.1 | |
| AJ222967.1 | CAA11021.1 | |||
| AK292019.1 | ||||
| AK296178.1 | ||||
| AK297525.1 | ||||
| AK309044.1 | ||||
| AK309651.1 | ||||
| BC032850.2 | AAH32850.1 | |||
| DB026195.1 | 1 | 318 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| dgv3085n100 | Chr.17:3595117 - 3665113 on Build GRCh38 | Loss |
 P2RX5-TAX1BP3
TRPV1
SHPK
TAX1BP3
CTNS
|
| esv3639749 | Chr.17:3570544 - 3639124 on Build GRCh38 | Gain |
TRPV1
SHPK
CTNS
|
| esv3639752 | Chr.17:3601104 - 3658235 on Build GRCh38 | Loss |
TRPV1
SHPK
CTNS
|
| dgv882e212 | Chr.17:3585851 - 3654158 on Build GRCh38 | Loss |
TRPV1
SHPK
CTNS
|
| nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain |
TRPV1
ASPA
CAMKK1
EMC6
ITGAE
GSG2
OR3A3
SPATA22
OR1E1
OR3A2
P2RX5-TAX1BP3
NCBP3
SHPK
OR1E2
P2RX5
TRPV3
TAX1BP3
CTNS
|
| esv3572354 | Chr.17:3528675 - 3654158 on Build GRCh38 | Gain |
TRPV1
SHPK
TRPV3
CTNS
|
| esv2762588 | Chr.17:3602274 - 3654159 on Build GRCh38 | Loss |
TRPV1
SHPK
CTNS
|
| dgv5423n54 | Chr.17:3601261 - 3665107 on Build GRCh38 | Loss |
P2RX5-TAX1BP3
TRPV1
SHPK
TAX1BP3
CTNS
|
| nsv516676 | Chr.17:3553441 - 3652130 on Build GRCh38 | Gain+Loss |
TRPV1
SHPK
TRPV3
CTNS
|
| nsv574237 | Chr.17:3486822 - 3729542 on Build GRCh38 | Loss |
P2RX5-TAX1BP3
TRPV1
ASPA
SHPK
EMC6
ITGAE
GSG2
P2RX5
TRPV3
SPATA22
TAX1BP3
CTNS
|
| nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain |
TRPV1
EMC6
P2RX1
ITGAE
OR3A1
OR1A1
OR3A3
SPATA22
OR1G1
OR1E1
OR3A2
P2RX5-TAX1BP3
OR1E2
P2RX5
TRPV3
PAFAH1B1
MIR6776
TAX1BP3
CTNS
LOC101927911
ASPA
LOC105371591
ATP2A3
OR1D5
OR1D4
CAMKK1
GSG2
OR3A4P
CCDC92B
CLUH
OR1A2
NCBP3
RAP1GAP2
SHPK
OR1D2
LOC105371592
MIR1253
|
| esv2662762 | Chr.17:3601001 - 3658179 on Build GRCh38 | Deletion |
TRPV1
SHPK
CTNS
|
| nsv833342 | Chr.17:3626188 - 3806082 on Build GRCh38 | Loss |
P2RX5-TAX1BP3
SHPK
EMC6
ITGAE
GSG2
P2RX5
TAX1BP3
CTNS
|
| dgv358n27 | Chr.17:3601921 - 3664167 on Build GRCh38 | Loss |
P2RX5-TAX1BP3
TRPV1
SHPK
TAX1BP3
CTNS
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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