Description

polycystic kidney disease 1 (autosomal dominant) [Source:HGNC Symbol;Acc:HGNC:9008]

Synonyms

PBP, Pc-1, TRPP1

Location

Chromosome 16: 2,088,710-2,135,898 reverse strand.

GRCh38:CM000678.2

About this gene

This gene has 40 transcripts (splice variants), 66 orthologues, 6 paralogues, is a member of 4 Ensembl protein families and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PKD1-001ENST00000262304141384303aaENSP00000262304
 
Protein coding
CCDS32369P98161 NM_001009944
NP_001009944
TSL:1GENCODE basicAPPRIS P3
PKD1-002ENST00000423118141354302aaENSP00000399501
 
Protein coding
CCDS45385P98161 NM_000296
NP_000287
TSL:1GENCODE basicAPPRIS ALT2
PKD1-028ENST000005679461822607aaENSP00000457984
 
Protein coding
-H3BV77 -CDS 5' and 3' incompleteTSL:5
PKD1-011ENST00000488185737246aaENSP00000456672
 
Protein coding
-H3BSE9 -CDS 5' and 3' incompleteTSL:5
PKD1-015ENST00000483024465155aaENSP00000456670
 
Protein coding
-H3BSE8 -CDS 5' and 3' incompleteTSL:5
PKD1-007ENST0000048793264641122aaENSP00000457132
 
Nonsense mediated decay
-H3BTE0 -CDS 5' incompleteTSL:5
PKD1-025ENST000005685912545200aaENSP00000457162
 
Nonsense mediated decay
-H3BTG3 -CDS 5' incompleteTSL:2
PKD1-040ENST0000056166866545aaENSP00000461391
 
Nonsense mediated decay
-I3L4N0 -CDS 5' incompleteTSL:3
PKD1-037ENST0000056242560891aaENSP00000455753
 
Nonsense mediated decay
-H3BQF4 -CDS 5' incompleteTSL:3
PKD1-027ENST00000561991964No protein-
 
Processed transcript
---TSL:5
PKD1-016ENST00000473780667No protein-
 
Processed transcript
---TSL:5
PKD1-035ENST00000570193596No protein-
 
Processed transcript
---TSL:5
PKD1-017ENST00000483558577No protein-
 
Processed transcript
---TSL:5
PKD1-030ENST00000570150571No protein-
 
Processed transcript
---TSL:5
PKD1-034ENST00000566905559No protein-
 
Processed transcript
---TSL:3
PKD1-018ENST00000475889511No protein-
 
Processed transcript
---TSL:5
PKD1-042ENST00000566784493No protein-
 
Processed transcript
---TSL:5
PKD1-012ENST00000468674490No protein-
 
Processed transcript
---TSL:5
PKD1-033ENST00000564865480No protein-
 
Processed transcript
---TSL:5
PKD1-005ENST000004863394443No protein-
 
Retained intron
---TSL:5
PKD1-004ENST000004965744419No protein-
 
Retained intron
---TSL:5
PKD1-010ENST000004837314193No protein-
 
Retained intron
---TSL:5
PKD1-043ENST000004159383386No protein-
 
Retained intron
---TSL:5
PKD1-009ENST000004716032505No protein-
 
Retained intron
---TSL:5
PKD1-008ENST000004802272353No protein-
 
Retained intron
---TSL:1
PKD1-029ENST000005622972040No protein-
 
Retained intron
---TSL:5
PKD1-044ENST000005656391976No protein-
 
Retained intron
---TSL:5
PKD1-023ENST000004725771140No protein-
 
Retained intron
---TSL:2
PKD1-019ENST00000474088923No protein-
 
Retained intron
---TSL:5
PKD1-031ENST00000569983722No protein-
 
Retained intron
---TSL:5
PKD1-022ENST00000485120696No protein-
 
Retained intron
---TSL:3
PKD1-021ENST00000469851661No protein-
 
Retained intron
---TSL:5
PKD1-024ENST00000472659661No protein-
 
Retained intron
---TSL:3
PKD1-014ENST00000469241659No protein-
 
Retained intron
---TSL:2
PKD1-036ENST00000570253603No protein-
 
Retained intron
---TSL:5
PKD1-039ENST00000567355575No protein-
 
Retained intron
---TSL:4
PKD1-032ENST00000564890574No protein-
 
Retained intron
---TSL:5
PKD1-041ENST00000564313568No protein-
 
Retained intron
---TSL:4
PKD1-020ENST00000483814563No protein-
 
Retained intron
---TSL:2
PKD1-038ENST00000568796447No protein-
 
Retained intron
---TSL:3

Gene-based displays