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ELN
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ELN
Description
elastin
Aliases
ADCL1, SVAS, WBS, WS
Gene Identifiers
mRNA Identifiers
RefSeq (mRNA)
NM_000501.4; NM_001081752.3; NM_001081753.3; NM_001081754.3; NM_001081755.3; NM_001278912.2; NM_001278913.2; NM_001278914.2; NM_001278915.2; NM_001278916.2; NM_001278917.2; NM_001278918.1; NM_001278939.1; XM_005250187.2; XM_005250188.2; XM_011515868.2; XM_011515869.1; XM_011515870.1; XM_011515871.2; XM_011515872.2; XM_011515873.2; XM_011515874.1; XM_011515875.2; XM_011515876.2; XM_011515877.2; XM_017011813.1; XM_017011814.2
Protein Identifiers
RefSeq (protein)
NP_000492.2; NP_001075221.1; NP_001075222.1; NP_001075223.1; NP_001075224.1; NP_001265841.1; NP_001265842.1; NP_001265843.1; NP_001265844.1; NP_001265845.1; NP_001265846.1; NP_001265847.1; NP_001265868.1; XP_005250244.1; XP_005250245.1; XP_011514170.1; XP_011514171.1; XP_011514172.1; XP_011514173.1; XP_011514174.1; XP_011514175.1; XP_011514176.1; XP_011514177.1; XP_011514178.1; XP_011514179.1; XP_016867302.1; XP_016867303.1
Uniprot ID
Ensembl protein ID
Protein Architecture
SMART
Disease Mapping
Druggability
- Candidate cancer driver
- Damaged in 16/7921 TCGA samples
- Damaged in 5/1291 cell lines
- Fewer loss of function mutations
- Equal damaging SNVs/indels
- Fewer structural variants