Human (GRCh38.p14)
Description

hephaestin [Source:HGNC Symbol;Acc:HGNC:4866]

Gene Synonyms

CPL, KIAA0698

Location

Chromosome X: 66,162,483-66,268,910 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 75 transcripts (splice variants), 198 orthologues and 35 paralogues.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000343002.7HEPH-20244311158aaENSP00000343939.2
 
Protein coding
CCDS14384Q9BQS7-1 NM_001367233.3MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P4TSL:1
ENST00000887518.1HEPH-21861291157aaENSP00000557577.1
 
Protein coding
CCDS48133--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000519389.6HEPH-20958911158aaENSP00000430620.2
 
Protein coding
CCDS14384Q9BQS7-1 -GENCODE BasicAPPRIS P4TSL:1
ENST00000887525.1HEPH-22547551158aaENSP00000557584.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887520.1HEPH-22047191158aaENSP00000557579.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000931788.1HEPH-25646641158aaENSP00000601847.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000931789.1HEPH-25746351158aaENSP00000601848.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887519.1HEPH-21946231158aaENSP00000557578.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887522.1HEPH-22245941158aaENSP00000557581.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887523.1HEPH-22345881157aaENSP00000557582.1
 
Protein coding
CCDS48133--GENCODE BasicAPPRIS ALT1
ENST00000887521.1HEPH-22145831157aaENSP00000557580.1
 
Protein coding
CCDS48133--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000887537.1HEPH-23745171158aaENSP00000557596.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE PrimaryGENCODE BasicAPPRIS P4
ENST00000887551.1HEPH-25144731157aaENSP00000557610.1
 
Protein coding
CCDS48133--GENCODE BasicAPPRIS ALT1
ENST00000887544.1HEPH-24444571158aaENSP00000557603.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE PrimaryGENCODE BasicAPPRIS P4
ENST00000887545.1HEPH-24544481157aaENSP00000557604.1
 
Protein coding
CCDS48133--GENCODE BasicAPPRIS ALT1
ENST00000956605.1HEPH-26444131158aaENSP00000626664.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887552.1HEPH-25243421157aaENSP00000557611.1
 
Protein coding
CCDS48133--GENCODE BasicAPPRIS ALT1
ENST00000956615.1HEPH-27443161158aaENSP00000626674.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE PrimaryGENCODE BasicAPPRIS P4
ENST00000887532.1HEPH-23243111169aaENSP00000557591.1
 
Protein coding
--GENCODE Basic
ENST00000441993.7HEPH-20643101157aaENSP00000411687.3
 
Protein coding
CCDS48133Q9BQS7-2 -GENCODE BasicAPPRIS ALT1TSL:1
ENST00000956616.1HEPH-27542981158aaENSP00000626675.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887554.1HEPH-25442561158aaENSP00000557613.1
 
Protein coding
CCDS14384Q1HE23 -GENCODE BasicAPPRIS P4
ENST00000887553.1HEPH-25342521157aaENSP00000557612.1
 
Protein coding
CCDS48133--GENCODE BasicAPPRIS ALT1
ENST00000956613.1HEPH-27242381087aaENSP00000626672.1
 
Protein coding
CCDS94623--GENCODE PrimaryGENCODE Basic
ENST00000336279.9HEPH-2014228891aaENSP00000337418.5
 
Protein coding
CCDS14385Q9BQS7-4 -GENCODE BasicTSL:1
ENST00000887528.1HEPH-22842221114aaENSP00000557587.1
 
Protein coding
--GENCODE Basic
ENST00000887524.1HEPH-22442171047aaENSP00000557583.1
 
Protein coding
--GENCODE Basic
ENST00000931790.1HEPH-25842121086aaENSP00000601849.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000956612.1HEPH-27142101086aaENSP00000626671.1
 
Protein coding
--GENCODE Basic
ENST00000887546.1HEPH-24642091086aaENSP00000557605.1
 
Protein coding
--GENCODE Basic
ENST00000887526.1HEPH-22642051087aaENSP00000557585.1
 
Protein coding
CCDS94623--GENCODE Basic
ENST00000887530.1HEPH-23041721118aaENSP00000557589.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000887550.1HEPH-25041531114aaENSP00000557609.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000931787.1HEPH-25541501046aaENSP00000601846.1
 
Protein coding
--GENCODE Basic
ENST00000887534.1HEPH-23441461114aaENSP00000557593.1
 
Protein coding
--GENCODE Basic
ENST00000887538.1HEPH-23841461047aaENSP00000557597.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000887547.1HEPH-24741131047aaENSP00000557606.1
 
Protein coding
--GENCODE Basic
ENST00000887542.1HEPH-24240991046aaENSP00000557601.1
 
Protein coding
--GENCODE Basic
ENST00000887533.1HEPH-23340901087aaENSP00000557592.1
 
Protein coding
CCDS94623--GENCODE Basic
ENST00000956607.1HEPH-26640861037aaENSP00000626666.1
 
Protein coding
--GENCODE Basic
ENST00000425114.2HEPH-20440671087aaENSP00000398078.2
 
Protein coding
CCDS94623Q5JZ08 -GENCODE BasicTSL:5
ENST00000887535.1HEPH-23540391047aaENSP00000557594.1
 
Protein coding
--GENCODE Basic
ENST00000887529.1HEPH-22939881047aaENSP00000557588.1
 
Protein coding
--GENCODE Basic
ENST00000887549.1HEPH-24939851047aaENSP00000557608.1
 
Protein coding
--GENCODE Basic
ENST00000956606.1HEPH-26539531045aaENSP00000626665.1
 
Protein coding
--GENCODE Basic
ENST00000887531.1HEPH-23139481046aaENSP00000557590.1
 
Protein coding
--GENCODE Basic
ENST00000887539.1HEPH-2393905965aaENSP00000557598.1
 
Protein coding
--GENCODE Basic
ENST00000931792.1HEPH-2603890976aaENSP00000601851.1
 
Protein coding
--GENCODE Basic
ENST00000887543.1HEPH-2433884966aaENSP00000557602.1
 
Protein coding
CCDS65277--GENCODE Basic
ENST00000887540.1HEPH-2403880965aaENSP00000557599.1
 
Protein coding
--GENCODE Basic
ENST00000931791.1HEPH-2593880976aaENSP00000601850.1
 
Protein coding
--GENCODE Basic
ENST00000956611.1HEPH-2703877966aaENSP00000626670.1
 
Protein coding
CCDS65277--GENCODE PrimaryGENCODE Basic
ENST00000887527.1HEPH-22738671004aaENSP00000557586.1
 
Protein coding
--GENCODE Basic
ENST00000887548.1HEPH-24838431004aaENSP00000557607.1
 
Protein coding
--GENCODE Basic
ENST00000931793.1HEPH-26138261003aaENSP00000601852.1
 
Protein coding
--GENCODE Basic
ENST00000956609.1HEPH-2683738926aaENSP00000626668.1
 
Protein coding
--GENCODE Basic
ENST00000956604.1HEPH-2633708966aaENSP00000626663.1
 
Protein coding
CCDS65277--GENCODE Basic
ENST00000419594.6HEPH-2033694966aaENSP00000413211.2
 
Protein coding
CCDS65277E7ES21 -GENCODE BasicTSL:1
ENST00000931794.1HEPH-26236431087aaENSP00000601853.1
 
Protein coding
CCDS94623--GENCODE Basic
ENST00000956610.1HEPH-2693642895aaENSP00000626669.1
 
Protein coding
--GENCODE Basic
ENST00000887536.1HEPH-2363588854aaENSP00000557595.1
 
Protein coding
--GENCODE Basic
ENST00000956608.1HEPH-2673555855aaENSP00000626667.1
 
Protein coding
--GENCODE Basic
ENST00000887541.1HEPH-2413550855aaENSP00000557600.1
 
Protein coding
--GENCODE Basic
ENST00000684603.1HEPH-2162919910aaENSP00000507800.1
 
Protein coding
A0A804HK72 -CDS 5' incomplete
ENST00000956614.1HEPH-2732285462aaENSP00000626673.1
 
Protein coding
--GENCODE Basic
ENST00000682927.1HEPH-2116751658aaENSP00000507905.1
 
Nonsense mediated decay
A0A804HKF4 --
ENST00000683049.1HEPH-2125829967aaENSP00000507032.1
 
Nonsense mediated decay
A0A804HIE6 --
ENST00000682362.1HEPH-2104976497aaENSP00000507411.1
 
Nonsense mediated decay
A0A804HJ98 --
ENST00000684042.1HEPH-214462760aaENSP00000507110.1
 
Nonsense mediated decay
F8WBZ8 --
ENST00000458621.6HEPH-2074546868aaENSP00000396907.2
 
Nonsense mediated decay
Q5JZ07 -TSL:2
ENST00000684625.1HEPH-2173654284aaENSP00000507338.1
 
Nonsense mediated decay
A0A804HJ33 -CDS 5' incomplete
ENST00000429547.6HEPH-20556960aaENSP00000392319.2
 
Nonsense mediated decay
F8WBZ8 -TSL:4
ENST00000683420.1HEPH-2133640No protein-
 
Protein coding CDS not defined
---
ENST00000684071.1HEPH-2154854No protein-
 
Retained intron
---
ENST00000471121.1HEPH-208802No protein-
 
Retained intron
--TSL:2