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Human (GRCh38.p14)
Description

SWI/SNF related BAF chromatin remodeling complex subunit E1 [Source:HGNC Symbol;Acc:HGNC:11109]

Gene Synonyms

BAF57

Location

Chromosome 17: 40,624,962-40,648,667 reverse strand.

GRCh38:CM000679.2

About this gene

This gene has 73 transcripts (splice variants), 265 orthologues, 20 paralogues and is associated with 62 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000348513.12SMARCE1-2025150411aaENSP00000323967.6
 
Protein coding
CCDS11370Q969G3-1 NM_003079.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00001139621.1SMARCE1-2735999411aaENSP00000806910.1
 
Protein coding
CCDS11370--Ensembl Canonical ExtendedGENCODE BasicAPPRIS P3
ENST00001099156.1SMARCE1-2686067411aaENSP00000768962.1
 
Protein coding
CCDS11370--GENCODE BasicAPPRIS P3
ENST00001048344.1SMARCE1-2606053429aaENSP00000718161.1
 
Protein coding
--GENCODE Basic
ENST00000924673.2SMARCE1-2526035423aaENSP00000594732.1
 
Protein coding
--GENCODE Basic
ENST00001004839.1SMARCE1-2556017417aaENSP00000674656.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000951586.2SMARCE1-2535991411aaENSP00000621645.1
 
Protein coding
CCDS11370--GENCODE BasicAPPRIS P3
ENST00000647508.2SMARCE1-2505894376aaENSP00000496445.1
 
Protein coding
Q969G3-4 -GENCODE Basic
ENST00000643318.2SMARCE1-2235837341aaENSP00000494771.1
 
Protein coding
Q969G3-3 -GENCODE Basic
ENST00000643683.2SMARCE1-2265293411aaENSP00000496094.1
 
Protein coding
CCDS11370Q969G3-1 -GENCODE BasicAPPRIS P3
ENST00000431889.7SMARCE1-2055075393aaENSP00000445370.1
 
Protein coding
B4DGM3 -GENCODE BasicTSL:2
ENST00000646283.2SMARCE1-2425040347aaENSP00000494537.1
 
Protein coding
A0A2R8YES3 -GENCODE Basic
ENST00000264640.10SMARCE1-2013834363aaENSP00000466608.2
 
Protein coding
Q969G3-2 -GENCODE BasicTSL:3
ENST00000643806.2SMARCE1-227367151aaENSP00000493729.1
 
Protein coding
A0A2R8YDD9 -GENCODE Basic
ENST00000644701.2SMARCE1-2333318363aaENSP00000496097.1
 
Protein coding
Q969G3-2 -GENCODE Basic
ENST00001048343.1SMARCE1-2593271346aaENSP00000718160.1
 
Protein coding
--GENCODE Basic
ENST00001086202.1SMARCE1-2623249346aaENSP00000756008.1
 
Protein coding
--GENCODE Basic
ENST00001048347.1SMARCE1-2613223345aaENSP00000718164.1
 
Protein coding
--GENCODE Basic
ENST00000377808.10SMARCE1-2033173328aaENSP00000367039.4
 
Protein coding
Q969G3-5 -GENCODE BasicTSL:1
ENST00000580419.7SMARCE1-2163133311aaENSP00000462475.2
 
Protein coding
A0A2U3TZQ7 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000474246.3SMARCE1-208297777aaENSP00000463405.1
 
Protein coding
J3QL66 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000645104.2SMARCE1-2352953332aaENSP00000496311.1
 
Protein coding
A0A2R8Y7I9 -GENCODE Basic
ENST00001004841.1SMARCE1-2572816347aaENSP00000674658.1
 
Protein coding
--GENCODE Basic
ENST00000647515.1SMARCE1-2512811277aaENSP00000495857.1
 
Protein coding
A0A2R8Y765 -GENCODE Basic
ENST00000447024.7SMARCE1-2062798363aaENSP00000392958.2
 
Protein coding
Q969G3-2 -GENCODE BasicTSL:3
ENST00000400122.8SMARCE1-2042600293aaENSP00000411607.2
 
Protein coding
Q969G3-6 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000644527.1SMARCE1-2322502335aaENSP00000493974.1
 
Protein coding
A0A2R8Y4T4 -GENCODE Basic
ENST00000642459.1SMARCE1-2202376297aaENSP00000496546.1
 
Protein coding
A0A2R8Y7U4 -GENCODE Basic
ENST00001086206.1SMARCE1-2652316363aaENSP00000756012.1
 
Protein coding
--GENCODE Basic
ENST00001128704.1SMARCE1-2722094275aaENSP00000798509.1
 
Protein coding
--GENCODE Basic
ENST00000578044.6SMARCE1-2131704341aaENSP00000464511.1
 
Protein coding
Q969G3-3 -GENCODE BasicTSL:1
ENST00000646482.1SMARCE1-2451320367aaENSP00000496661.1
 
Protein coding
A0A2R8Y855 -GENCODE Basic
ENST00000478349.7SMARCE1-2091086287aaENSP00000463216.2
 
Protein coding
J3QKS7 -TSL:5CDS 3' incomplete
ENST00000580654.6SMARCE1-217888259aaENSP00000464061.2
 
Protein coding
J3QR61 -TSL:5CDS 3' incomplete
ENST00000582955.6SMARCE1-218559135aaENSP00000463282.2
 
Protein coding
J3QKX6 -TSL:5CDS 3' incomplete
ENST00000577721.6SMARCE1-212488109aaENSP00000462857.2
 
Protein coding
J3KT85 -TSL:5CDS 3' incomplete
ENST00000647294.1SMARCE1-248249155aaENSP00000494815.1
 
Nonsense mediated decay
A0A2R8YDQ4 --
ENST00001086205.1SMARCE1-264246256aaENSP00000756011.1
 
Nonsense mediated decay
---
ENST00001086203.1SMARCE1-2632431127aaENSP00000756009.1
 
Nonsense mediated decay
---
ENST00001004838.1SMARCE1-2542415192aaENSP00000674655.1
 
Nonsense mediated decay
---
ENST00000578112.6SMARCE1-214238852aaENSP00000464501.1
 
Nonsense mediated decay
J3QS32 -TSL:5
ENST00000645227.1SMARCE1-238229858aaENSP00000495021.1
 
Nonsense mediated decay
A0A2R8YFC8 --
ENST00001004840.1SMARCE1-256205552aaENSP00000674657.1
 
Nonsense mediated decay
---
ENST00000646856.1SMARCE1-246202652aaENSP00000494505.1
 
Nonsense mediated decay
J3QS32 --
ENST00001004842.1SMARCE1-258202252aaENSP00000674659.1
 
Nonsense mediated decay
---
ENST00000644909.1SMARCE1-2341971115aaENSP00000493649.1
 
Nonsense mediated decay
A0A2R8YD78 --
ENST00001099155.1SMARCE1-267158755aaENSP00000768961.1
 
Nonsense mediated decay
---
ENST00001099154.1SMARCE1-2661404244aaENSP00000768960.1
 
Nonsense mediated decay
---
ENST00001099157.1SMARCE1-2691230185aaENSP00000768963.1
 
Nonsense mediated decay
---
ENST00001099159.1SMARCE1-271106455aaENSP00000768965.1
 
Nonsense mediated decay
---
ENST00000481231.6SMARCE1-21078977aaENSP00000462381.2
 
Nonsense mediated decay
J3QL66 -TSL:3
ENST00001099158.1SMARCE1-27074355aaENSP00000768964.1
 
Nonsense mediated decay
---
ENST00000645478.1SMARCE1-23958496aaENSP00000494214.1
 
Nonsense mediated decay
A0A2R8YEB8 -CDS 5' incomplete
ENST00000644523.1SMARCE1-2312305No protein-
 
Protein coding CDS not defined
---
ENST00000646242.1SMARCE1-2418466No protein-
 
Retained intron
---
ENST00000644443.1SMARCE1-2304146No protein-
 
Retained intron
---
ENST00000646401.1SMARCE1-2433644No protein-
 
Retained intron
---
ENST00000642576.1SMARCE1-2213405No protein-
 
Retained intron
---
ENST00000643030.1SMARCE1-2222906No protein-
 
Retained intron
---
ENST00000469334.6SMARCE1-2072856No protein-
 
Retained intron
--TSL:5
ENST00000643378.1SMARCE1-2242832No protein-
 
Retained intron
---
ENST00000645152.1SMARCE1-2362575No protein-
 
Retained intron
---
ENST00000646448.1SMARCE1-2442519No protein-
 
Retained intron
---
ENST00000643893.1SMARCE1-2282496No protein-
 
Retained intron
---
ENST00000647221.1SMARCE1-2472377No protein-
 
Retained intron
---
ENST00000493660.6SMARCE1-2112319No protein-
 
Retained intron
--TSL:3
ENST00000644257.1SMARCE1-2292271No protein-
 
Retained intron
---
ENST00000643580.1SMARCE1-2251631No protein-
 
Retained intron
---
ENST00000645663.1SMARCE1-2401096No protein-
 
Retained intron
---
ENST00000645155.1SMARCE1-237734No protein-
 
Retained intron
---
ENST00000578995.6SMARCE1-215733No protein-
 
Retained intron
--TSL:2
ENST00000647347.1SMARCE1-249581No protein-
 
Retained intron
---
ENST00000583294.1SMARCE1-219476No protein-
 
Retained intron
--TSL:2