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Human (GRCh37.p13)
Description

Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:969]

Location

Chromosome 15: 72,978,527-73,030,817 forward strand.

GRCh37:CM000677.1

About this gene

This gene has 20 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
BBS4-001ENST00000268057.42490519aaENSP00000268057.4
 
Protein coding
CCDS10246Q96RK4 NM_033028
NP_149017
GENCODE basic
BBS4-203ENST00000542334.11974347aaENSP00000445964.1
 
Protein coding
CCDS58377Q96RK4 NM_001252678
NP_001239607
GENCODE basic
BBS4-201ENST00000395205.22472527aaENSP00000378631.2
 
Protein coding
-Q96RK4 -GENCODE basic
BBS4-202ENST00000539603.11876507aaENSP00000442492.1
 
Protein coding
-F5H7I8 -GENCODE basic
BBS4-016ENST00000569338.1843281aaENSP00000456758.1
 
Protein coding
-H3BSL2 -CDS 5' and 3' incomplete
BBS4-011ENST00000566829.1551141aaENSP00000455958.1
 
Protein coding
-H3BQV7 -CDS 3' incomplete
BBS4-013ENST00000566197.1541180aaENSP00000457479.1
 
Protein coding
---CDS 5' and 3' incomplete
BBS4-003ENST00000566400.1205520aaENSP00000456759.1
 
Nonsense mediated decay
-H3BRY9 --
BBS4-002ENST00000567279.1187667aaENSP00000456664.1
 
Nonsense mediated decay
-H3BSE2 --
BBS4-005ENST00000562084.1186477aaENSP00000454718.1
 
Nonsense mediated decay
-H3BN76 --
BBS4-008ENST00000561914.1777103aaENSP00000457795.1
 
Nonsense mediated decay
-H3BUU1 --
BBS4-017ENST00000565160.1681142aaENSP00000455412.1
 
Nonsense mediated decay
-H3BPP7 --
BBS4-009ENST00000569440.157933aaENSP00000457958.1
 
Nonsense mediated decay
-H3BV56 --
BBS4-019ENST00000566938.156320aaENSP00000456463.1
 
Nonsense mediated decay
-H3BRY9 --
BBS4-010ENST00000563600.155750aaENSP00000457753.1
 
Nonsense mediated decay
-H3BUQ7 --
BBS4-012ENST00000564239.1527No protein-
 
Processed transcript
----
BBS4-007ENST00000569001.1349No protein-
 
Processed transcript
----
BBS4-004ENST00000562219.11004No protein-
 
Retained intron
----
BBS4-014ENST00000568535.1781No protein-
 
Retained intron
----
BBS4-015ENST00000569151.1272No protein-
 
Retained intron
----

Gene-based displays