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Description

fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]

Gene Synonyms

FBN, MASS, MFS1, OCTD, SGS, WMS

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
FBN1-201ENST00000316623.10116092871aaENSP00000325527.5
 
Protein coding
CCDS32232P35555 NM_000138.5MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P1TSL:1
FBN1-205ENST00000560355.1410955aaENSP00000453901.1
 
Protein coding
-H0YN80 -GENCODE basicTSL:1
FBN1-204ENST00000559133.54901853aaENSP00000453958.1
 
Nonsense mediated decay
-H0YND0 -TSL:1CDS 5' incomplete
FBN1-202ENST00000537463.63766302aaENSP00000440294.2
 
Nonsense mediated decay
-F6U495 -TSL:5
FBN1-208ENST00000674301.13678550aaENSP00000501333.1
 
Nonsense mediated decay
-A0A6I8PL22 -CDS 5' incomplete
FBN1-207ENST00000561429.1660No protein-
 
Processed transcript
---TSL:5
FBN1-203ENST00000558230.1482No protein-
 
Processed transcript
---TSL:3
FBN1-210ENST00000682170.15283No protein-
 
Retained intron
----
FBN1-213ENST00000684448.15150No protein-
 
Retained intron
----
FBN1-211ENST00000682767.14399No protein-
 
Retained intron
----
FBN1-209ENST00000682158.12885No protein-
 
Retained intron
----
FBN1-212ENST00000683268.1967No protein-
 
Retained intron
----
FBN1-206ENST00000560820.1579No protein-
 
Retained intron
---TSL:3
Description

MDM2 proto-oncogene [Source:HGNC Symbol;Acc:HGNC:6973]

Gene Synonyms

HDM2, MGC5370

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
MDM2-202ENST00000258149.117490497aaENSP00000258149.6
 
Protein coding
CCDS8986Q00987-11 NM_002392.6MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS ALT2TSL:1
MDM2-203ENST00000299252.8966321aaENSP00000299252.4
 
Protein coding
CCDS61189Q00987-5 -GENCODE basicTSL:1
MDM2-225ENST00000539479.62523491aaENSP00000444430.2
 
Protein coding
-Q00987-1 -GENCODE basicAPPRIS P4TSL:1
MDM2-212ENST00000393416.71748522aaENSP00000377068.3
 
Protein coding
-E7EPE2 -GENCODE basicTSL:5
MDM2-232ENST00000544561.61480455aaENSP00000441841.2
 
Protein coding
-F5GWH7 -GENCODE basicTSL:5
MDM2-209ENST00000393412.71404243aaENSP00000377064.4
 
Protein coding
-Q9H4C5 -GENCODE basicTSL:5
MDM2-206ENST00000350057.91401466aaENSP00000266624.9
 
Protein coding
-J3KN53 -GENCODE basicTSL:1
MDM2-201ENST00000258148.111361442aaENSP00000258148.7
 
Protein coding
-G3XA89 -GENCODE basicTSL:1
MDM2-215ENST00000428863.61037243aaENSP00000410694.3
 
Protein coding
-Q8TE47 -GENCODE basicTSL:5
MDM2-207ENST00000360430.6891296aaENSP00000353611.2
 
Protein coding
-Q00987-2 -GENCODE basicTSL:1
MDM2-233ENST00000545204.286668aaENSP00000444597.2
 
Protein coding
-F5GZB0 -GENCODE basicTSL:5
MDM2-211ENST00000393415.7842256aaENSP00000377067.3
 
Protein coding
-A7UKX8 -TSL:5CDS 3' incomplete
MDM2-205ENST00000348801.7799266aaENSP00000335096.4
 
Protein coding
-A0A0C4DFR5 -TSL:1CDS 5' incomplete
MDM2-208ENST00000393410.5732243aaENSP00000377062.1
 
Protein coding
-Q9H4C5 -GENCODE basicTSL:1
MDM2-217ENST00000478070.269350aaENSP00000430906.2
 
Protein coding
-E5RHE2 -TSL:1CDS 5' incomplete
MDM2-210ENST00000393413.7657218aaENSP00000377065.3
 
Protein coding
-Q00987-4 -GENCODE basicTSL:1
MDM2-222ENST00000523991.5505143aaENSP00000427828.1
 
Protein coding
-E7EMW5 -TSL:1CDS 3' incomplete
MDM2-230ENST00000543323.5427117aaENSP00000439238.1
 
Protein coding
-A0A1B0GXJ6 -TSL:1CDS 3' incomplete
MDM2-221ENST00000517852.5393130aaENSP00000430257.1
 
Protein coding
-Q9H4C3 -GENCODE basicTSL:1
MDM2-213ENST00000393417.8168376aaENSP00000429021.3
 
Nonsense mediated decay
-F6UXB6 -TSL:5
MDM2-204ENST00000311420.13158384aaENSP00000310742.9
 
Nonsense mediated decay
-J3QST1 -TSL:5
MDM2-237ENST00000671567.11527134aaENSP00000499407.1
 
Nonsense mediated decay
-A0A0A8KBA1 --
MDM2-236ENST00000666617.1149964aaENSP00000499763.1
 
Nonsense mediated decay
-A0A0A8K986 --
MDM2-235ENST00000665020.11472185aaENSP00000499718.1
 
Nonsense mediated decay
-A0A0A8KB88 --
MDM2-226ENST00000540352.51315170aaENSP00000445030.1
 
Nonsense mediated decay
-F5H4Q8 -TSL:1
MDM2-223ENST00000536089.5118178aaENSP00000444028.1
 
Nonsense mediated decay
-F5H1M7 -TSL:1
MDM2-228ENST00000542502.5112784aaENSP00000444566.1
 
Nonsense mediated decay
-F5GZC3 -TSL:1
MDM2-218ENST00000481186.6105736aaENSP00000431110.2
 
Nonsense mediated decay
-E5RJQ0 -TSL:5CDS 5' incomplete
MDM2-224ENST00000537182.5101178aaENSP00000443450.1
 
Nonsense mediated decay
-F5H1M7 -TSL:1
MDM2-220ENST00000496959.589760aaENSP00000429692.1
 
Nonsense mediated decay
-Q96DS5 -TSL:1
MDM2-234ENST00000546048.536378aaENSP00000445222.1
 
Nonsense mediated decay
-F5H1M7 -TSL:5
MDM2-231ENST00000544125.1649No protein-
 
Processed transcript
---TSL:2
MDM2-227ENST00000540709.1502No protein-
 
Processed transcript
---TSL:3
MDM2-214ENST00000400501.2406No protein-
 
Processed transcript
---TSL:2
MDM2-219ENST00000493419.1577No protein-
 
Retained intron
---TSL:2
MDM2-229ENST00000543046.1432No protein-
 
Retained intron
---TSL:3
MDM2-216ENST00000471946.1251No protein-
 
Retained intron
---TSL:3
Description

tetratricopeptide repeat domain 7A [Source:HGNC Symbol;Acc:HGNC:19750]

Gene Synonyms

KIAA1140, TTC7

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
TTC7A-201ENST00000319190.115095858aaENSP00000316699.5
 
Protein coding
CCDS33193Q9ULT0-1 NM_020458.4MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P2TSL:2
TTC7A-202ENST00000394850.64306882aaENSP00000378320.2
 
Protein coding
CCDS74511Q9ULT0-4 -GENCODE basicAPPRIS ALT2TSL:1
TTC7A-203ENST00000409245.53033824aaENSP00000386307.1
 
Protein coding
CCDS74510G5E9G4 -GENCODE basicTSL:2
TTC7A-204ENST00000409825.5473966aaENSP00000386521.1
 
Nonsense mediated decay
-H0Y3V7 -TSL:1CDS 5' incomplete
TTC7A-206ENST00000441914.52418330aaENSP00000393022.1
 
Nonsense mediated decay
-H7C055 -TSL:1CDS 5' incomplete
TTC7A-205ENST00000440051.1641108aaENSP00000401467.1
 
Nonsense mediated decay
-H7C1P2 -TSL:5CDS 5' incomplete
TTC7A-214ENST00000651415.13557No protein-
 
Processed transcript
----
TTC7A-213ENST00000651101.13358No protein-
 
Processed transcript
----
TTC7A-216ENST00000652568.12864No protein-
 
Processed transcript
----
TTC7A-215ENST00000652236.12787No protein-
 
Processed transcript
----
TTC7A-207ENST00000461601.52204No protein-
 
Processed transcript
---TSL:2
TTC7A-210ENST00000484337.5753No protein-
 
Processed transcript
---TSL:3
TTC7A-212ENST00000496991.3703No protein-
 
Processed transcript
---TSL:3
TTC7A-208ENST00000474321.6622No protein-
 
Processed transcript
---TSL:5
TTC7A-211ENST00000491786.53615No protein-
 
Retained intron
---TSL:1
TTC7A-209ENST00000484061.53085No protein-
 
Retained intron
---TSL:1
Description

diacylglycerol kinase alpha [Source:HGNC Symbol;Acc:HGNC:2849]

Gene Synonyms

DAGK, DAGK1, DGK-alpha

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
DGKA-201ENST00000331886.102727735aaENSP00000328405.5
 
Protein coding
CCDS8896P23743-1 NM_001345.5MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P1TSL:5
DGKA-202ENST00000394147.52770735aaENSP00000377703.1
 
Protein coding
CCDS8896P23743-1 -GENCODE basicAPPRIS P1TSL:5
DGKA-229ENST00000551156.52671735aaENSP00000450359.1
 
Protein coding
CCDS8896P23743-1 -GENCODE basicAPPRIS P1TSL:1
DGKA-245ENST00000555218.51900545aaENSP00000451743.1
 
Protein coding
-G3V4E1 -TSL:1CDS 3' incomplete
DGKA-239ENST00000552903.2607202aaENSP00000451518.1
 
Protein coding
-H0YJH4 -TSL:3CDS 5' and 3' incomplete
DGKA-233ENST00000551707.5605133aaENSP00000447460.1
 
Protein coding
-F8W1M3 -TSL:5CDS 3' incomplete
DGKA-204ENST00000432422.7591116aaENSP00000402307.3
 
Protein coding
-C9JM35 -TSL:2CDS 3' incomplete
DGKA-244ENST00000555090.556944aaENSP00000452353.1
 
Protein coding
-G3V4I3 -TSL:4CDS 3' incomplete
DGKA-222ENST00000549368.5567147aaENSP00000447050.1
 
Protein coding
-F8W1H7 -TSL:4CDS 3' incomplete
DGKA-241ENST00000553783.5564107aaENSP00000450999.1
 
Protein coding
-G3V327 -TSL:4CDS 3' incomplete
DGKA-205ENST00000546878.555658aaENSP00000446515.1
 
Protein coding
-F8VNZ9 -TSL:4CDS 3' incomplete
DGKA-223ENST00000549629.554894aaENSP00000450977.1
 
Protein coding
-G3V312 -TSL:4CDS 3' incomplete
DGKA-243ENST00000555025.554844aaENSP00000450608.1
 
Protein coding
-G3V4I3 -TSL:4CDS 3' incomplete
DGKA-208ENST00000547015.554221aaENSP00000449178.1
 
Protein coding
-F8VWX8 -TSL:5CDS 3' incomplete
DGKA-248ENST00000557080.550544aaENSP00000451814.1
 
Protein coding
-G3V4I3 -TSL:4CDS 3' incomplete
DGKA-246ENST00000556001.5497133aaENSP00000451266.1
 
Protein coding
-F8W1M3 -TSL:3CDS 3' incomplete
DGKA-203ENST00000402956.72582247aaENSP00000385792.3
 
Nonsense mediated decay
-P23743-3 -TSL:1
DGKA-240ENST00000553084.51734118aaENSP00000446605.1
 
Nonsense mediated decay
-P23743-2 -TSL:1
DGKA-249ENST00000557180.569897aaENSP00000451330.1
 
Nonsense mediated decay
-H0YJE7 -TSL:5CDS 5' incomplete
DGKA-227ENST00000550888.1585116aaENSP00000449923.1
 
Nonsense mediated decay
-C9JM35 -TSL:3
DGKA-217ENST00000548549.5563118aaENSP00000448565.1
 
Nonsense mediated decay
-P23743-2 -TSL:4
DGKA-218ENST00000549079.61961No protein-
 
Processed transcript
---TSL:5
DGKA-221ENST00000549323.6594No protein-
 
Processed transcript
---TSL:3
DGKA-225ENST00000550115.5574No protein-
 
Processed transcript
---TSL:4
DGKA-213ENST00000548378.1540No protein-
 
Processed transcript
---TSL:4
DGKA-236ENST00000552478.55436No protein-
 
Retained intron
---TSL:5
DGKA-234ENST00000551739.54357No protein-
 
Retained intron
---TSL:5
DGKA-230ENST00000551296.54076No protein-
 
Retained intron
---TSL:2
DGKA-212ENST00000548047.52031No protein-
 
Retained intron
---TSL:5
DGKA-220ENST00000549097.51444No protein-
 
Retained intron
---TSL:1
DGKA-210ENST00000547358.51320No protein-
 
Retained intron
---TSL:1
DGKA-214ENST00000548407.6825No protein-
 
Retained intron
---TSL:5
DGKA-237ENST00000552652.2782No protein-
 
Retained intron
---TSL:5
DGKA-235ENST00000552335.6780No protein-
 
Retained intron
---TSL:4
DGKA-242ENST00000554434.6750No protein-
 
Retained intron
---TSL:5
DGKA-238ENST00000552687.6699No protein-
 
Retained intron
---TSL:3
DGKA-231ENST00000551585.1678No protein-
 
Retained intron
---TSL:5
DGKA-206ENST00000546895.5621No protein-
 
Retained intron
---TSL:2
DGKA-215ENST00000548479.1613No protein-
 
Retained intron
---TSL:3
DGKA-209ENST00000547324.5599No protein-
 
Retained intron
---TSL:2
DGKA-207ENST00000546995.5592No protein-
 
Retained intron
---TSL:4
DGKA-224ENST00000549986.5566No protein-
 
Retained intron
---TSL:3
DGKA-211ENST00000547535.5565No protein-
 
Retained intron
---TSL:4
DGKA-232ENST00000551615.5541No protein-
 
Retained intron
---TSL:3
DGKA-247ENST00000556344.5540No protein-
 
Retained intron
---TSL:4
DGKA-216ENST00000548491.1533No protein-
 
Retained intron
---TSL:2
DGKA-219ENST00000549085.1527No protein-
 
Retained intron
---TSL:5
DGKA-226ENST00000550484.1453No protein-
 
Retained intron
---TSL:4
DGKA-228ENST00000550957.1224No protein-
 
Retained intron
---TSL:2
Description

sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]

Gene Synonyms

FEB3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
SCN1A-224ENST00000674923.1119402009aaENSP00000501589.1
 
Protein coding
CCDS54413-NM_001165963.4MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS ALT1
SCN1A-218ENST00000641575.1128741997aaENSP00000492917.1
 
Protein coding
CCDS86891A0A286YF26 -GENCODE basic
SCN1A-201ENST00000303395.9118532009aaENSP00000303540.4
 
Protein coding
CCDS54413P35498-1 -GENCODE basicAPPRIS P4TSL:5
SCN1A-216ENST00000637988.185621998aaENSP00000490780.1
 
Protein coding
CCDS33316P35498-2 -GENCODE basicAPPRIS ALT1TSL:5
SCN1A-208ENST00000635750.182991998aaENSP00000490799.1
 
Protein coding
CCDS33316P35498-2 -GENCODE basicAPPRIS ALT1TSL:5
SCN1A-202ENST00000375405.780971998aaENSP00000364554.3
 
Protein coding
CCDS33316P35498-2 -GENCODE basicAPPRIS ALT1TSL:5
SCN1A-203ENST00000409050.159461981aaENSP00000386312.1
 
Protein coding
CCDS54414P35498-3 -GENCODE basicTSL:5
SCN1A-219ENST00000641603.1125061915aaENSP00000492945.1
 
Protein coding
-A0A286YEQ8 -GENCODE basic
SCN1A-209ENST00000635776.1101071618aaENSP00000490692.1
 
Protein coding
-A0A1B0GVX7 -GENCODE basicTSL:5
SCN1A-217ENST00000640036.181311998aaENSP00000491573.1
 
Protein coding
-A0A1W2PPJ3 -GENCODE basicTSL:5
SCN1A-214ENST00000637285.21333aaENSP00000490612.1
 
Protein coding
---TSL:5CDS 3' incomplete
SCN1A-220ENST00000641996.112903149aaENSP00000493054.1
 
Nonsense mediated decay
-A0A286YFA8 --
SCN1A-211ENST00000636194.18508829aaENSP00000490288.1
 
Nonsense mediated decay
-A0A1B0GUX7 -TSL:5
SCN1A-222ENST00000671940.18315629aaENSP00000500336.1
 
Nonsense mediated decay
-A0A5F9ZHI6 --
SCN1A-213ENST00000637038.14268331aaENSP00000490184.1
 
Nonsense mediated decay
-A0A1B0GUN7 -TSL:5CDS 5' incomplete
SCN1A-212ENST00000636759.13606145aaENSP00000490895.1
 
Nonsense mediated decay
-A0A1B0GWE6 -TSL:5
SCN1A-210ENST00000635893.116830aaENSP00000489986.1
 
Nonsense mediated decay
-A0A1B0GU68 -TSL:5CDS 5' incomplete
SCN1A-221ENST00000642141.1921No protein-
 
Processed transcript
----
SCN1A-223ENST00000673490.110569No protein-
 
Retained intron
----
SCN1A-215ENST00000637968.14614No protein-
 
Retained intron
---TSL:5
SCN1A-206ENST00000507401.2711No protein-
 
Retained intron
---TSL:3
SCN1A-207ENST00000625916.1560No protein-
 
Retained intron
---TSL:4
SCN1A-204ENST00000473295.2544No protein-
 
Retained intron
---TSL:4
SCN1A-205ENST00000491429.1542No protein-
 
Retained intron
---TSL:4
Statistics

Exons: 26, Coding exons: 26, Transcript length: 8,097 bps, Translation length: 1,998 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS33316

Uniprot

This transcript corresponds to the following Uniprot identifiers: P35498

Transcript Support Level (TSL)

TSL:5

Version

ENST00000375405.7

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays

    HASH(0x24d0d930)