GTF2E2 (general transcription factor IIE subunit 2)

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Gene: GTF2E2 (general transcription factor IIE subunit 2) Homo sapiens

Analyze

Symbol:

GTF2E2

Name:

general transcription factor IIE subunit 2

RGD ID:

1320859

HGNC Page

HGNC:4651

Description:

Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nuclear speck. Part of transcription factor TFIID complex. Implicated in nonphotosensitive trichothiodystrophy 6.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FE; general transcription factor IIE, polypeptide 2, beta 34kDa; TF2E2; TFIIE beta subunit; TFIIE-B; TFIIE-beta; transcription initiation factor IIE subunit beta; TTD6

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Related Pseudogenes:

LOC100422440

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	30,578,318 - 30,658,236 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	8	30,578,318 - 30,658,236 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	30,435,835 - 30,515,753 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	30,555,573 - 30,635,280 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	30,555,574 - 30,635,274	NCBI
Celera	8	29,394,512 - 29,474,259 (-)	NCBI
Cytogenetic Map	8	p12	NCBI
HuRef	8	28,980,483 - 29,060,402 (-)	NCBI		HuRef
CHM1_1	8	30,638,171 - 30,717,889 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	30,857,764 - 30,937,703 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

nonphotosensitive trichothiodystrophy 6 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4-dinitrotoluene (ISO)

2-methylcholine (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

5-aza-2'-deoxycytidine (EXP)

aflatoxin B1 (EXP)

Aroclor 1254 (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chlordecone (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

clofibrate (ISO)

cyclosporin A (EXP)

deguelin (EXP)

dicrotophos (EXP)

ellagic acid (EXP)

ethanol (ISO)

ethyl methanesulfonate (EXP)

flutamide (ISO)

formaldehyde (EXP)

ivermectin (EXP)

methidathion (ISO)

paracetamol (ISO)

phenobarbital (EXP)

picoxystrobin (EXP)

quercetin (EXP)

resveratrol (EXP)

rotenone (EXP)

tetrachloromethane (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

transcription by RNA polymerase II (IDA)

transcription initiation at RNA polymerase II promoter (IBA,IEA,TAS)

Cellular Component

cytosol (IDA)

nuclear speck (IDA)

nucleoplasm (IDA,TAS)

nucleus (IEA)

transcription factor TFIID complex (IDA)

transcription factor TFIIE complex (IBA,IEA)

Molecular Function

DNA binding (IEA)

protein binding (IPI)

RNA binding (HDA)

RNA polymerase II general transcription initiation factor activity (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

RNA polymerase II transcription initiation pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal pyramidal sign (IAGP)

Abnormality of prenatal development or birth (IAGP)

Absence of subcutaneous fat (IAGP)

Alopecia of scalp (IAGP)

Anemia (IAGP)

Aplasia/Hypoplasia of the nails (IAGP)

Astigmatism (IAGP)

Autosomal recessive inheritance (IAGP)

Bilateral microphthalmos (IAGP)

Bilateral sensorineural hearing impairment (IAGP)

Bird-like facies (IAGP)

Brittle hair (IAGP)

Broad-based gait (IAGP)

Bronchospasm (IAGP)

Cardiomyopathy (IAGP)

Carious teeth (IAGP)

Cerebral cortical atrophy (IAGP)

Cerebral dysmyelination (IAGP)

Clubbing (IAGP)

Coarse facial features (IAGP)

Concave nail (IAGP)

Congenital exfoliative erythroderma (IAGP)

Coronal craniosynostosis (IAGP)

Coxa valga (IAGP)

Craniosynostosis (IAGP)

Cryptorchidism (IAGP)

Cutaneous photosensitivity (IAGP)

Defective DNA repair after ultraviolet radiation damage (IAGP)

Delayed skeletal maturation (IAGP)

Developmental cataract (IAGP)

Diffuse cerebellar atrophy (IAGP)

Dry skin (IAGP)

Dysarthria (IAGP)

Dysphonia (IAGP)

Dystrophic fingernails (IAGP)

Ectropion (IAGP)

Eczema (IAGP)

Enamel hypoplasia (IAGP)

Epicanthus (IAGP)

Esotropia (IAGP)

Fragile nails (IAGP)

Gait ataxia (IAGP)

Generalized hyperreflexia (IAGP)

Generalized hypotonia (IAGP)

Generalized-onset seizure (IAGP)

Global developmental delay (IAGP)

Gonadal dysgenesis (IAGP)

High, narrow palate (IAGP)

Hypertelorism (IAGP)

Hypoplasia of mandible relative to maxilla (IAGP)

Hyporeflexia (IAGP)

Hypotelorism (IAGP)

Ichthyosis (IAGP)

Impaired social reciprocity (IAGP)

Increased bone mineral density (IAGP)

Increased mean corpuscular hemoglobin concentration (IAGP)

Intellectual disability, moderate (IAGP)

Intention tremor (IAGP)

Intrauterine growth retardation (IAGP)

Joint dislocation (IAGP)

Keratoconjunctivitis sicca (IAGP)

Long-tract signs (IAGP)

Low-set nipples (IAGP)

Macular degeneration (IAGP)

Microcephaly (IAGP)

Microcornea (IAGP)

Mild intrauterine growth retardation (IAGP)

Motor delay (IAGP)

Multiple joint contractures (IAGP)

Myopia (IAGP)

Neutropenia (IAGP)

Numerous pigmented freckles (IAGP)

Nystagmus (IAGP)

Osteopenia (IAGP)

Panhypogammaglobulinemia (IAGP)

Paraplegia/paraparesis (IAGP)

Partial agenesis of the corpus callosum (IAGP)

Peripheral neuropathy (IAGP)

Periventricular leukomalacia (IAGP)

Pes cavus (IAGP)

Photophobia (IAGP)

Prematurely aged appearance (IAGP)

Protruding ear (IAGP)

Psychomotor retardation (IAGP)

Recurrent bronchopulmonary infections (IAGP)

Retrognathia (IAGP)

Ridged nail (IAGP)

Short stature (IAGP)

Slow-growing hair (IAGP)

Small for gestational age (IAGP)

Sparse scalp hair (IAGP)

Spasticity (IAGP)

Split nail (IAGP)

Squamous cell carcinoma (IAGP)

Thoracic kyphosis (IAGP)

Tiger tail banding (IAGP)

Umbilical hernia (IAGP)

Ventricular septal defect (IAGP)

Ventriculomegaly (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Structural insights into transcription initiation by RNA polymerase II.	Grunberg S and Hahn S, Trends Biochem Sci. 2013 Dec;38(12):603-11. doi: 10.1016/j.tibs.2013.09.002. Epub 2013 Oct 11.
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1939271	PMID:1956398	PMID:1956404	PMID:2026628	PMID:2251258	PMID:2449431	PMID:3029109	PMID:7651391	PMID:7876263	PMID:7926747	PMID:8152490	PMID:8628277
PMID:8786118	PMID:8849451	PMID:8934526	PMID:8946909	PMID:8999876	PMID:9054383	PMID:9089417	PMID:9121429	PMID:9271120	PMID:9405375	PMID:9618479	PMID:9677423
PMID:10777215	PMID:10792464	PMID:10827951	PMID:11113176	PMID:11416139	PMID:11509574	PMID:12477932	PMID:12665589	PMID:15489334	PMID:16547462	PMID:17643375	PMID:18029348
PMID:19106100	PMID:19210545	PMID:19861958	PMID:20125193	PMID:21244100	PMID:21489275	PMID:21832049	PMID:21873635	PMID:21988832	PMID:22404213	PMID:22658674	PMID:22678362
PMID:22863883	PMID:22939629	PMID:23064645	PMID:23934736	PMID:25308091	PMID:25492609	PMID:26344197	PMID:26996949	PMID:27193682	PMID:27602723	PMID:27639436	PMID:28514442
PMID:28515276	PMID:28700943	PMID:28973399	PMID:28986522	PMID:29117863	PMID:29121065	PMID:29568061	PMID:30021884	PMID:30585729	PMID:30890647	PMID:30940648	PMID:31527615
PMID:31527668	PMID:32296183	PMID:32416067	PMID:32645484	PMID:32694731	PMID:33658012	PMID:33916271	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34581812
PMID:34795231	PMID:34944018

Genomics

Comparative Map Data

GTF2E2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	30,578,318 - 30,658,236 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	8	30,578,318 - 30,658,236 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	30,435,835 - 30,515,753 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	30,555,573 - 30,635,280 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	30,555,574 - 30,635,274	NCBI
Celera	8	29,394,512 - 29,474,259 (-)	NCBI
Cytogenetic Map	8	p12	NCBI
HuRef	8	28,980,483 - 29,060,402 (-)	NCBI		HuRef
CHM1_1	8	30,638,171 - 30,717,889 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	30,857,764 - 30,937,703 (-)	NCBI

Gtf2e2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	34,221,942 - 34,267,201 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	8	34,221,861 - 34,267,201 (+)	Ensembl
GRCm38	8	33,731,914 - 33,777,173 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	33,731,833 - 33,777,173 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	34,842,386 - 34,887,645 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	8	35,197,977 - 35,243,099 (+)	NCBI			mm8
Celera	8	36,366,841 - 36,414,460 (+)	NCBI		Celera
Cytogenetic Map	8	A4	NCBI

Gtf2e2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	16	58,399,307 - 58,449,467 (-)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	16	58,399,107 - 58,449,371 (-)	Ensembl
Rnor_6.0	16	62,113,846 - 62,164,339 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	62,113,854 - 62,164,135 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	61,778,116 - 61,827,126 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	62,168,709 - 62,218,868 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	16	62,168,793 - 62,215,640 (-)	NCBI
Celera	16	56,436,672 - 56,485,957 (-)	NCBI		Celera
Cytogenetic Map	16	q12.3	NCBI

Gtf2e2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955463	7,000,868 - 7,084,207 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955463	7,000,868 - 7,080,778 (-)	NCBI	ChiLan1.0	ChiLan1.0

GTF2E2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	8	27,071,634 - 27,151,147 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	27,071,634 - 27,151,147 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	8	29,881,879 - 29,961,554 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

GTF2E2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	33,697,872 - 33,778,247 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	33,707,420 - 33,777,851 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	34,160,349 - 34,240,505 (+)	NCBI
ROS_Cfam_1.0	16	35,726,970 - 35,807,607 (+)	NCBI
ROS_Cfam_1.0 Ensembl	16	35,726,875 - 35,807,601 (+)	Ensembl
UMICH_Zoey_3.1	16	33,825,507 - 33,905,842 (+)	NCBI
UNSW_CanFamBas_1.0	16	34,395,537 - 34,475,827 (+)	NCBI
UU_Cfam_GSD_1.0	16	34,516,308 - 34,596,621 (+)	NCBI

Gtf2e2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404943	56,834,974 - 56,953,968 (+)	NCBI
SpeTri2.0	NW_004936792	409,637 - 484,010 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GTF2E2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	54,444,470 - 54,531,213 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	54,444,480 - 54,525,566 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	61,839,232 - 61,920,626 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GTF2E2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	28,690,056 - 28,772,470 (-)	NCBI	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666052	13,333,790 - 13,418,142 (+)	NCBI	Vero_WHO_p1.0

Gtf2e2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624839	7,247,596 - 7,329,480 (-)	Ensembl	HetGla_female_1.0		hetGla2
HetGla 1.0	NW_004624839	7,248,183 - 7,328,582 (-)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

G36444

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,503,184 - 30,503,285	UniSTS	GRCh37
Build 36	8	30,622,726 - 30,622,827	RGD	NCBI36
Celera	8	29,461,703 - 29,461,804	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	29,047,709 - 29,047,810	UniSTS

G32125

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,438,829 - 30,438,995	UniSTS	GRCh37
Build 36	8	30,558,371 - 30,558,537	RGD	NCBI36
Celera	8	29,397,310 - 29,397,476	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	28,983,281 - 28,983,447	UniSTS

RH11463

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,436,177 - 30,436,277	UniSTS	GRCh37
Build 36	8	30,555,719 - 30,555,819	RGD	NCBI36
Celera	8	29,394,658 - 29,394,758	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	28,980,629 - 28,980,729	UniSTS
GeneMap99-GB4 RH Map	8	118.6	UniSTS

RH93000

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,441,976 - 30,442,137	UniSTS	GRCh37
Build 36	8	30,561,518 - 30,561,679	RGD	NCBI36
Celera	8	29,400,477 - 29,400,638	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	28,986,428 - 28,986,589	UniSTS
GeneMap99-GB4 RH Map	8	118.6	UniSTS

RH103819

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,503,405 - 30,503,498	UniSTS	GRCh37
Build 36	8	30,622,947 - 30,623,040	RGD	NCBI36
Celera	8	29,461,924 - 29,462,017	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	29,047,930 - 29,048,023	UniSTS
GeneMap99-GB4 RH Map	8	118.5	UniSTS

D8S1862

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,436,092 - 30,436,434	UniSTS	GRCh37
Build 36	8	30,555,634 - 30,555,976	RGD	NCBI36
Celera	8	29,394,573 - 29,394,915	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	28,980,544 - 28,980,886	UniSTS
Stanford-G3 RH Map	8	1390.0	UniSTS
Whitehead-YAC Contig Map	8		UniSTS
NCBI RH Map	8	413.5	UniSTS
GeneMap99-G3 RH Map	8	1480.0	UniSTS

D8S2166

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,441,185 - 30,441,356	UniSTS	GRCh37
Build 36	8	30,560,727 - 30,560,898	RGD	NCBI36
Celera	8	29,399,686 - 29,399,857	RGD
HuRef	8	28,985,637 - 28,985,808	UniSTS

D8S2241

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,500,125 - 30,500,281	UniSTS	GRCh37
Build 36	8	30,619,667 - 30,619,823	RGD	NCBI36
Celera	8	29,458,644 - 29,458,800	RGD
HuRef	8	29,044,650 - 29,044,806	UniSTS

D8S2214

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,457,616 - 30,457,697	UniSTS	GRCh37
Build 36	8	30,577,158 - 30,577,239	RGD	NCBI36
Celera	8	29,416,115 - 29,416,196	RGD
HuRef	8	29,002,062 - 29,002,143	UniSTS

RH47774

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,507,771 - 30,507,903	UniSTS	GRCh37
Build 36	8	30,627,313 - 30,627,445	RGD	NCBI36
Celera	8	29,466,290 - 29,466,422	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	29,052,429 - 29,052,561	UniSTS
GeneMap99-GB4 RH Map	8	118.5	UniSTS
NCBI RH Map	8	410.4	UniSTS

WI-19229

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	30,436,184 - 30,436,440	UniSTS	GRCh37
Build 36	8	30,555,726 - 30,555,982	RGD	NCBI36
Celera	8	29,394,665 - 29,394,921	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	28,980,636 - 28,980,892	UniSTS
GeneMap99-GB4 RH Map	8	118.5	UniSTS
Whitehead-RH Map	8	121.9	UniSTS
NCBI RH Map	8	414.6	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	700
Count of miRNA genes:	521
Interacting mature miRNAs:	565
Transcripts:	ENST00000355904, ENST00000518445, ENST00000518599, ENST00000522833, ENST00000523499
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2381

1830

1598

488

1466

343

3683

1126

2156

371

1447

1606

159

1200

2119

Low

1157

126

136

484

122

673

1069

1560

669

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_052833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017013363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017013364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA483281	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC102945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC103959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH010055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX421791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S67861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X63469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000355904 ⟹ ENSP00000348168

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	30,578,318 - 30,658,236 (-)	Ensembl

RefSeq Acc Id:

ENST00000518445 ⟹ ENSP00000429312

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	30,612,470 - 30,657,618 (-)	Ensembl

RefSeq Acc Id:

ENST00000518599 ⟹ ENSP00000429921

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	30,607,104 - 30,657,005 (-)	Ensembl

RefSeq Acc Id:

ENST00000522833

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	30,584,503 - 30,612,365 (-)	Ensembl

RefSeq Acc Id:

ENST00000523499 ⟹ ENSP00000428981

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	30,607,057 - 30,658,032 (-)	Ensembl

RefSeq Acc Id:

NM_001348353 ⟹ NP_001335282

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,584,425 - 30,657,618 (-)	NCBI
T2T-CHM13v2.0	8	30,863,870 - 30,937,079 (-)	NCBI

Sequence:

show sequence

TGCTCATACGCGGACTGCTTTCTAGGCTACCTTTTGGAGATTTGCATTATGGATCCAAGCCTGT
TGAGAGAAAGGGAGCTGTTCAAAAAACGAGCTCTTTCTACTCCTGTAGTAGAAAAACGTTCAGC
ATCTTCTGAGTCATCATCATCATCGTCAAAGAAGAAGAAAACAAAGGTAGAACATGGAGGATCG
TCAGGCTCTAAACAAAATTCTGATCATAGCAATGGATCATTTAACTTGAAAGCTTTGTCAGGAA
GCTCTGGATATAAGTTTGGTGTTCTTGCTAAGATTGTGAATTACATGAAGACACGGCATCAGCG
AGGAGATACGCATCCTCTAACCTTAGATGAAATTTTGGATGAAACACAACATTTAGATATTGGA
CTCAAGCAGAAACAATGGCTAATGACTGAGGCTTTAGTCAACAATCCCAAAATTGAAGTAATAG
ATGGGAAGTATGCTTTCAAGCCCAAGTACAACGTGAGAGATAAGAAGGCCCTACTTAGGCTCTT
AGATCAGCATGACCAGCGAGGATTAGGAGGAATTCTTTTAGAAGACATAGAAGAAGCACTGCCC
AATTCCCAGAAAGCTGTCAAGGCTTTGGGGGACCAGATACTATTTGTAAATCGTCCCGATAAGA
AGAAAATACTTTTCTTCAATGATAAGAGCTGTCAGTTTTCTGTGGATGAAGGCTGGAGTGCAAT
GGCGTGATCTCGGCTCACCGCAACCTCTGCCTTCCGGACTCAAGCGATTCTCCTTCCTCAGCCT
CCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAATAGAG
ATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCTGCCT
TGGCCTCCTAAAGTGCTTGGATTACAGAGCCACCACGCTCGGCGAGGCAGGTATTATTATTATC
CTCACTTTACAGATGAAGAAATGGAGGCAGAAAAATTAAGATGTTTGCACCACTTTGTGCAGGA
AATGTGGTAACTGAGGTCACAGCCAGGCCATCTGGCTCTGAGGCCTGCACCACACTGTTGTGCT
ACTTTTGCATTTACGGGAAAGGGCTAAGCACAGACAAAATGTGAGTGCGTTATTTGGGAATTTT
AAGCAAAGCCTCATTGGTAAGTTGGCTCATTTTCTTCCCTTCTATGGCAGTTACACAGTTTTTT
ATTCTTAACTCATGTGGGACAAGGAAGGGTCTTTTGAAATGAAAGGATCAAATCTGAGCTTTTA
AATTCTAGTCTGTTTTCTCCTCTTTTCTGCTAAGAGAGTAGATTTCTAAATCAGTTCTGATTTT
ATTTACCCTTACGGTTTAGAGTGTGCCTGACTTTCATGATACTTGGCTGTCTTCTGCCATAATA
AAGTGTCTGCCTTTAAA

hide sequence

RefSeq Acc Id:

NM_002095 ⟹ NP_002086

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,578,318 - 30,658,236 (-)	NCBI
GRCh37	8	30,436,031 - 30,515,738 (-)	ENTREZGENE
Build 36	8	30,555,573 - 30,635,280 (-)	NCBI Archive
HuRef	8	28,980,483 - 29,060,402 (-)	ENTREZGENE
CHM1_1	8	30,638,171 - 30,717,889 (-)	NCBI
T2T-CHM13v2.0	8	30,857,764 - 30,937,703 (-)	NCBI

Sequence:

show sequence

ACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGCCTCAG
CTACCGCCGCTGCCGCCGCCGCCGCCGCCACCGCCAGTGGTGAGACCCCGACCTGGCGGGTCAG
CGCTGGGCGTGCGTGCGGGCAGGCGGGGGCGCTGACGAGAAGCAGGAAGAGGGTGCAGTGCCGG
CGTGGGCGGCCGGCCGAGGCGGAGGCGCAGGAAGGGGGCGGCGAGTCGTGCGAGGCTGCCCTTC
TCACTCAGCATTATGGATCCAAGCCTGTTGAGAGAAAGGGAGCTGTTCAAAAAACGAGCTCTTT
CTACTCCTGTAGTAGAAAAACGTTCAGCATCTTCTGAGTCATCATCATCATCGTCAAAGAAGAA
GAAAACAAAGGTAGAACATGGAGGATCGTCAGGCTCTAAACAAAATTCTGATCATAGCAATGGA
TCATTTAACTTGAAAGCTTTGTCAGGAAGCTCTGGATATAAGTTTGGTGTTCTTGCTAAGATTG
TGAATTACATGAAGACACGGCATCAGCGAGGAGATACGCATCCTCTAACCTTAGATGAAATTTT
GGATGAAACACAACATTTAGATATTGGACTCAAGCAGAAACAATGGCTAATGACTGAGGCTTTA
GTCAACAATCCCAAAATTGAAGTAATAGATGGGAAGTATGCTTTCAAGCCCAAGTACAACGTGA
GAGATAAGAAGGCCCTACTTAGGCTCTTAGATCAGCATGACCAGCGAGGATTAGGAGGAATTCT
TTTAGAAGACATAGAAGAAGCACTGCCCAATTCCCAGAAAGCTGTCAAGGCTTTGGGGGACCAG
ATACTATTTGTAAATCGTCCCGATAAGAAGAAAATACTTTTCTTCAATGATAAGAGCTGTCAGT
TTTCTGTGGATGAAGAATTTCAGAAACTGTGGAGGAGTGTCACTGTAGATTCCATGGACGAGGA
GAAAATTGAAGAATATCTGAAGCGACAGGGTATTTCTTCCATGCAGGAATCTGGACCAAAGAAA
GTGGCCCCTATTCAGAGAAGGAAAAAGCCTGCTTCACAGAAAAAGCGACGCTTTAAGACTCATA
ACGAACACTTGGCTGGAGTGCTGAAGGATTACTCTGACATTACTTCCAGCAAATAGGGAACAGT
TTTGCCCTGGAACAGAGTTACAGATACACAATCAAGAGTGTTCTTGCTGATGCTCGGGGTCTGA
AGACTGTCTTCCTATCTGCTTCTTGCGGCTGAGGAGAGGAGCAGTTCAGTTTACAAAACAAGTG
CAAATTACCAAACTCAAAGCTTATTTGAGTAGAATGGGCTCATGGGCAATGTGATGTTCCCTGT
TAACCTTCTGTTACTCCCTGGGAGAAAGGCGCTGAGCGTGGCATGCAGGTGTCTTTGCTGTGTT
TTTCTCCACTTCTAAATGGTTCCTGGTTCCTTTCTTCCTCGTTTGTTACTTTAGAGCAAGTTTG
CCCATAGTCTTGAATGCAATATTTGTTTATTCCAAAAGAACATATTTATAATAAAATCACTGTA
GAAGGATTTTTAAGATGTTAGTGAATTCTGTTTCTTTTCATTCTCGGAAATGGCAGGAAGCAGC
TCCAGTCTCTGATTTCCATGGGTCACGTGCTGGGGATGTGATGAAGCCTGCAGTCTGCACTGTG
TTGCTGAGCACATGGATTTCACCACTGGAACACAGGTGTGCTGCTTGTTAGCAAGCAGAGCAAT
AAAGATGTGCTGGATGTCA

hide sequence

RefSeq Acc Id:

XM_011544509 ⟹ XP_011542811

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,584,425 - 30,658,236 (-)	NCBI

Sequence:

show sequence

CCGGGACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGC
CTCAGCTACCGCCGCTGCCGCCGCCGCCGCCGCCACCGCCAGTGGTGAGACCCCGACCTGGCGG
GTCAGCGCTGGGCGTGCGTGCGGGCAGGCGGGGGCGCTGACGAGAAGCAGGAAGAGGGTGCAGT
GCCGGCGTGGGCGGCCGGCCGAGGCGGAGGCGCAGGAAGGGGGCGGCGAGTCGTGCGAGGCTGC
CCTTCTCACTCAGCATTATGGATCCAAGCCTGTTGAGAGAAAGGGAGCTGTTCAAAAAACGAGC
TCTTTCTACTCCTGTAGTAGAAAAACGTTCAGCATCTTCTGAGTCATCATCATCATCGTCAAAG
AAGAAGAAAACAAAGGTAGAACATGGAGGATCGTCAGGCTCTAAACAAAATTCTGATCATAGCA
ATGGATCATTTAACTTGAAAGCTTTGTCAGGAAGCTCTGGATATAAGTTTGGTGTTCTTGCTAA
GATTGTGAATTACATGAAGACACGGCATCAGCGAGGAGATACGCATCCTCTAACCTTAGATGAA
ATTTTGGATGAAACACAACATTTAGATATTGGACTCAAGCAGAAACAATGGCTAATGACTGAGG
CTTTAGTCAACAATCCCAAAATTGAAGTAATAGATGGGAAGTATGCTTTCAAGCCCAAGTACAA
CGTGAGAGATAAGAAGGCCCTACTTAGGCTCTTAGATCAGCATGACCAGCGAGGATTAGGAGGA
ATTCTTTTAGAAGACATAGAAGAAGCACTGCCCAATTCCCAGAAAGCTGTCAAGGCTTTGGGGG
ACCAGATACTATTTGTAAATCGTCCCGATAAGAAGAAAATACTTTTCTTCAATGATAAGAGCTG
TCAGTTTTCTGTGGATGAAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGCAACCTCTGCC
TTCCGGACTCAAGCGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCA
CCACGCCTGGCTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTC
TCGAACTCCCGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTTGGATTACAGAGCC
ACCACGCTCGGCGAGGCAGGTATTATTATTATCCTCACTTTACAGATGAAGAAATGGAGGCAGA
AAAATTAAGATGTTTGCACCACTTTGTGCAGGAAATGTGGTAACTGAGGTCACAGCCAGGCCAT
CTGGCTCTGAGGCCTGCACCACACTGTTGTGCTACTTTTGCATTTACGGGAAAGGGCTAAGCAC
AGACAAAATGTGAGTGCGTTATTTGGGAATTTTAAGCAAAGCCTCATTGGTAAGTTGGCTCATT
TTCTTCCCTTCTATGGCAGTTACACAGTTTTTTATTCTTAACTCATGTGGGACAAGGAAGGGTC
TTTTGAAATGAAAGGATCAAATCTGAGCTTTTAAATTCTAGTCTGTTTTCTCCTCTTTTCTGCT
AAGAGAGTAGATTTCTAAATCAGTTCTGATTTTATTTACCCTTACGGTTTAGAGTGTGCCTGAC
TTTCATGATACTTGGCTGTCTTCTGCCATAATAAAGTGTCTGCCT

hide sequence

RefSeq Acc Id:

XM_011544510 ⟹ XP_011542812

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,601,710 - 30,658,236 (-)	NCBI

Sequence:

show sequence

CCGGGACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGC
CTCAGCTACCGCCGCTGCCGCCGCCGCCGCCGCCACCGCCAGTGGTGAGACCCCGACCTGGCGG
GTCAGCGCTGGGCGTGCGTGCGGGCAGGCGGGGGCGCTGACGAGAAGCAGGAAGAGGGTGCAGT
GCCGGCGTGGGCGGCCGGCCGAGGCGGAGGCGCAGGAAGGGGGCGGCGAGTCGTGCGAGGCTGC
CCTTCTCACTCAGCATTATGGATCCAAGCCTGTTGAGAGAAAGGGAGCTGTTCAAAAAACGAGC
TCTTTCTACTCCTGTAGTAGAAAAACGTTCAGCATCTTCTGAGTCATCATCATCATCGTCAAAG
AAGAAGAAAACAAAGGTAGAACATGGAGGATCGTCAGGCTCTAAACAAAATTCTGATCATAGCA
ATGGATCATTTAACTTGAAAGCTTTGTCAGGAAGCTCTGGATATAAGTTTGGTGTTCTTGCTAA
GATTGTGAATTACATGAAGACACGGCATCAGCGAGGAGATACGCATCCTCTAACCTTAGATGAA
ATTTTGGATGAAACACAACATTTAGATATTGGACTCAAGCAGAAACAATGGCTAATGACTGAGG
CTTTAGTCAACAATCCCAAAATTGAAGTAATAGATGGGAAGTATGCTTTCAAGCCCAAGTACAA
CGTGAGAGATAAGAAGGCCCTACTTAGGCTCTTAGATCAGCATGACCAGCGAGGATTAGGAGGA
ATTCTTTTAGAAGACATAGAAGAAGCACTGCCCAATTCCCAGAAAGCTGTCAAGGCTTTGGGGG
ACCAGATACTATTTGTAAATCGTCCCGATAAGAAGAAAATACTTTTCTTCAATGATAAGAGCTG
TCAGTTTTCTGTGGATGAAGAGTCACCATGAAGATGATAGCCACCA

hide sequence

RefSeq Acc Id:

XM_017013363 ⟹ XP_016868852

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,578,318 - 30,655,184 (-)	NCBI

Sequence:

show sequence

TGCTGTATCCCCCAGGCTGGAGGGCAGTGGCGGGATCTCAGCTTACTGCAACCTCTGCTGGACT
CAAACAGTTCTCGTGTCTCAGCGTTCTGAGTAGCCCGGACTACACCATTATGGATCCAAGCCTG
TTGAGAGAAAGGGAGCTGTTCAAAAAACGAGCTCTTTCTACTCCTGTAGTAGAAAAACGTTCAG
CATCTTCTGAGTCATCATCATCATCGTCAAAGAAGAAGAAAACAAAGGTAGAACATGGAGGATC
GTCAGGCTCTAAACAAAATTCTGATCATAGCAATGGATCATTTAACTTGAAAGCTTTGTCAGGA
AGCTCTGGATATAAGTTTGGTGTTCTTGCTAAGATTGTGAATTACATGAAGACACGGCATCAGC
GAGGAGATACGCATCCTCTAACCTTAGATGAAATTTTGGATGAAACACAACATTTAGATATTGG
ACTCAAGCAGAAACAATGGCTAATGACTGAGGCTTTAGTCAACAATCCCAAAATTGAAGTAATA
GATGGGAAGTATGCTTTCAAGCCCAAGTACAACGTGAGAGATAAGAAGGCCCTACTTAGGCTCT
TAGATCAGCATGACCAGCGAGGATTAGGAGGAATTCTTTTAGAAGACATAGAAGAAGCACTGCC
CAATTCCCAGAAAGCTGTCAAGGCTTTGGGGGACCAGATACTATTTGTAAATCGTCCCGATAAG
AAGAAAATACTTTTCTTCAATGATAAGAGCTGTCAGTTTTCTGTGGATGAAGAATTTCAGAAAC
TGTGGAGGAGTGTCACTGTAGATTCCATGGACGAGGAGAAAATTGAAGAATATCTGAAGCGACA
GGGTATTTCTTCCATGCAGGAATCTGGACCAAAGAAAGTGGCCCCTATTCAGAGAAGGAAAAAG
CCTGCTTCACAGAAAAAGCGACGCTTTAAGACTCATAACGAACACTTGGCTGGAGTGCTGAAGG
ATTACTCTGACATTACTTCCAGCAAATAGGGAACAGTTTTGCCCTGGAACAGAGTTACAGATAC
ACAATCAAGAGTGTTCTTGCTGATGCTCGGGGTCTGAAGACTGTCTTCCTATCTGCTTCTTGCG
GCTGAGGAGAGGAGCAGTTCAGTTTACAAAACAAGTGCAAATTACCAAACTCAAAGCTTATTTG
AGTAGAATGGGCTCATGGGCAATGTGATGTTCCCTGTTAACCTTCTGTTACTCCCTGGGAGAAA
GGCGCTGAGCGTGGCATGCAGGTGTCTTTGCTGTGTTTTTCTCCACTTCTAAATGGTTCCTGGT
TCCTTTCTTCCTCGTTTGTTACTTTAGAGCAAGTTTGCCCATAGTCTTGAATGCAATATTTGTT
TATTCCAAAAGAACATATTTATAATAAAATCACTGTAGAAGGATTTTTAA

hide sequence

RefSeq Acc Id:

XM_017013364 ⟹ XP_016868853

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,578,318 - 30,657,618 (-)	NCBI

Sequence:

show sequence

ATACGCGGACTGCTTTCTAGGCTACCTTTTGGAGATTTGCATTATGGATCCAAGCCTGTTGAGA
GAAAGGGAGCTGTTCAAAAAACGAGCTCTTTCTACTCCTGTAGTAGAAAAACGTTCAGCATCTT
CTGAGTCATCATCATCATCGTCAAAGAAGAAGAAAACAAAGGTAGAACATGGAGGATCGTCAGG
CTCTAAACAAAATTCTGATCATAGCAATGGATCATTTAACTTGAAAGCTTTGTCAGGAAGCTCT
GGATATAAGTTTGGTGTTCTTGCTAAGATTGTGAATTACATGAAGACACGGCATCAGCGAGGAG
ATACGCATCCTCTAACCTTAGATGAAATTTTGGATGAAACACAACATTTAGATATTGGACTCAA
GCAGAAACAATGGCTAATGACTGAGGCTTTAGTCAACAATCCCAAAATTGAAGTAATAGATGGG
AAGTATGCTTTCAAGCCCAAGTACAACGTGAGAGATAAGAAGGCCCTACTTAGGCTCTTAGATC
AGCATGACCAGCGAGGATTAGGAGGAATTCTTTTAGAAGACATAGAAGAAGCACTGCCCAATTC
CCAGAAAGCTGTCAAGGCTTTGGGGGACCAGATACTATTTGTAAATCGTCCCGATAAGAAGAAA
ATACTTTTCTTCAATGATAAGAGCTGTCAGTTTTCTGTGGATGAAGAATTTCAGAAACTGTGGA
GGAGTGTCACTGTAGATTCCATGGACGAGGAGAAAATTGAAGAATATCTGAAGCGACAGGGTAT
TTCTTCCATGCAGGAATCTGGACCAAAGAAAGTGGCCCCTATTCAGAGAAGGAAAAAGCCTGCT
TCACAGAAAAAGCGACGCTTTAAGACTCATAACGAACACTTGGCTGGAGTGCTGAAGGATTACT
CTGACATTACTTCCAGCAAATAGGGAACAGTTTTGCCCTGGAACAGAGTTACAGATACACAATC
AAGAGTGTTCTTGCTGATGCTCGGGGTCTGAAGACTGTCTTCCTATCTGCTTCTTGCGGCTGAG
GAGAGGAGCAGTTCAGTTTACAAAACAAGTGCAAATTACCAAACTCAAAGCTTATTTGAGTAGA
ATGGGCTCATGGGCAATGTGATGTTCCCTGTTAACCTTCTGTTACTCCCTGGGAGAAAGGCGCT
GAGCGTGGCATGCAGGTGTCTTTGCTGTGTTTTTCTCCACTTCTAAATGGTTCCTGGTTCCTTT
CTTCCTCGTTTGTTACTTTAGAGCAAGTTTGCCCATAGTCTTGAATGCAATATTTGTTTATTCC
AAAAGAACATATTTATAATAAAATCACTGTAGAAGGATTTTTAA

hide sequence

RefSeq Acc Id:

XM_024447138 ⟹ XP_024302906

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,578,318 - 30,653,981 (-)	NCBI

Sequence:

show sequence

GAGTAGCTGGGACTGTAAGCACACATCACCATGCCTGCCTGATTTTTTGTATTTTTGTAGACAG
GAGGTATTACCATGTTGTCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAGTCTGCCCACCTCG
GCTTCCCAAAGTGCTTCAGCCACTATGCCTGGCCTCTTTTTTTCCTATAATGGCTAGTACAGTG
CTTGGCGTGTAATAAGCGCTAATGAAATATTTCTTGAGTACTTGAATAAGTGAATAAATGCAAG
TGCTAGAGAACTAATAATAAAAGCATTATGGATCCAAGCCTGTTGAGAGAAAGGGAGCTGTTCA
AAAAACGAGCTCTTTCTACTCCTGTAGTAGAAAAACGTTCAGCATCTTCTGAGTCATCATCATC
ATCGTCAAAGAAGAAGAAAACAAAGGTAGAACATGGAGGATCGTCAGGCTCTAAACAAAATTCT
GATCATAGCAATGGATCATTTAACTTGAAAGCTTTGTCAGGAAGCTCTGGATATAAGTTTGGTG
TTCTTGCTAAGATTGTGAATTACATGAAGACACGGCATCAGCGAGGAGATACGCATCCTCTAAC
CTTAGATGAAATTTTGGATGAAACACAACATTTAGATATTGGACTCAAGCAGAAACAATGGCTA
ATGACTGAGGCTTTAGTCAACAATCCCAAAATTGAAGTAATAGATGGGAAGTATGCTTTCAAGC
CCAAGTACAACGTGAGAGATAAGAAGGCCCTACTTAGGCTCTTAGATCAGCATGACCAGCGAGG
ATTAGGAGGAATTCTTTTAGAAGACATAGAAGAAGCACTGCCCAATTCCCAGAAAGCTGTCAAG
GCTTTGGGGGACCAGATACTATTTGTAAATCGTCCCGATAAGAAGAAAATACTTTTCTTCAATG
ATAAGAGCTGTCAGTTTTCTGTGGATGAAGAATTTCAGAAACTGTGGAGGAGTGTCACTGTAGA
TTCCATGGACGAGGAGAAAATTGAAGAATATCTGAAGCGACAGGGTATTTCTTCCATGCAGGAA
TCTGGACCAAAGAAAGTGGCCCCTATTCAGAGAAGGAAAAAGCCTGCTTCACAGAAAAAGCGAC
GCTTTAAGACTCATAACGAACACTTGGCTGGAGTGCTGAAGGATTACTCTGACATTACTTCCAG
CAAATAGGGAACAGTTTTGCCCTGGAACAGAGTTACAGATACACAATCAAGAGTGTTCTTGCTG
ATGCTCGGGGTCTGAAGACTGTCTTCCTATCTGCTTCTTGCGGCTGAGGAGAGGAGCAGTTCAG
TTTACAAAACAAGTGCAAATTACCAAACTCAAAGCTTATTTGAGTAGAATGGGCTCATGGGCAA
TGTGATGTTCCCTGTTAACCTTCTGTTACTCCCTGGGAGAAAGGCGCTGAGCGTGGCATGCAGG
TGTCTTTGCTGTGTTTTTCTCCACTTCTAAATGGTTCCTGGTTCCTTTCTTCCTCGTTTGTTAC
TTTAGAGCAAGTTTGCCCATAGTCTTGAATGCAATATTTGTTTATTCCAAAAGAACATATTTAT
AATAAAATCACTGTAGAAGGATTTTTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001335282	(Get FASTA)	NCBI Sequence Viewer
	NP_002086	(Get FASTA)	NCBI Sequence Viewer
	XP_011542811	(Get FASTA)	NCBI Sequence Viewer
	XP_011542812	(Get FASTA)	NCBI Sequence Viewer
	XP_016868852	(Get FASTA)	NCBI Sequence Viewer
	XP_016868853	(Get FASTA)	NCBI Sequence Viewer
	XP_024302906	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB20414	(Get FASTA)	NCBI Sequence Viewer
	AAH30572	(Get FASTA)	NCBI Sequence Viewer
	CAA45069	(Get FASTA)	NCBI Sequence Viewer
	EAW63446	(Get FASTA)	NCBI Sequence Viewer
	EAW63447	(Get FASTA)	NCBI Sequence Viewer
	EAW63448	(Get FASTA)	NCBI Sequence Viewer
	EAW63449	(Get FASTA)	NCBI Sequence Viewer
	P29084	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_002086 ⟸ NM_002095
- Peptide Label:	isoform 1
- UniProtKB:	P29084 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV NRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPI QRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK hide sequence

RefSeq Acc Id:

XP_011542811 ⟸ XM_011544509

- Peptide Label:

isoform X2

- Sequence:

show sequence

MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL
KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP
KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV
NRPDKKKILFFNDKSCQFSVDEGWSAMA

hide sequence

RefSeq Acc Id:

XP_011542812 ⟸ XM_011544510

- Peptide Label:

isoform X3

- Sequence:

show sequence

MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL
KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP
KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV
NRPDKKKILFFNDKSCQFSVDEESP

hide sequence

RefSeq Acc Id:	XP_016868853 ⟸ XM_017013364
- Peptide Label:	isoform X1
- UniProtKB:	P29084 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV NRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPI QRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK hide sequence

RefSeq Acc Id:	XP_016868852 ⟸ XM_017013363
- Peptide Label:	isoform X1
- UniProtKB:	P29084 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV NRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPI QRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK hide sequence

RefSeq Acc Id:

XP_024302906 ⟸ XM_024447138

- Peptide Label:

isoform X1

- Sequence:

show sequence

MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL
KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP
KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV
NRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPI
QRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK

hide sequence

RefSeq Acc Id:

NP_001335282 ⟸ NM_001348353

- Peptide Label:

isoform 2

- Sequence:

show sequence

MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNL
KALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNP
KIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFV
NRPDKKKILFFNDKSCQFSVDEGWSAMA

hide sequence

RefSeq Acc Id:

ENSP00000429921 ⟸ ENST00000518599

RefSeq Acc Id:

ENSP00000429312 ⟸ ENST00000518445

RefSeq Acc Id:

ENSP00000428981 ⟸ ENST00000523499

RefSeq Acc Id:

ENSP00000348168 ⟸ ENST00000355904

Protein Domains

TFIIE beta

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P29084-F1-model_v2	AlphaFold	P29084	1-291	view protein structure

Promoters

RGD ID:

6806791

Promoter ID:

HG_KWN:61052

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_002095

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	30,634,914 - 30,635,414 (-)	MPROMDB

RGD ID:

7213035

Promoter ID:

EPDNEW_H12262

Type:

initiation region

Name:

GTF2E2_4

Description:

general transcription factor IIE subunit 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12263 EPDNEW_H12264 EPDNEW_H12270

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,658,054 - 30,658,114	EPDNEW

RGD ID:

7213033

Promoter ID:

EPDNEW_H12263

Type:

initiation region

Name:

GTF2E2_1

Description:

general transcription factor IIE subunit 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12262 EPDNEW_H12264 EPDNEW_H12270

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	30,658,233 - 30,658,293	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	copy number gain	See cases [RCV000050995]	Chr8:29719897..48521849 [GRCh38] Chr8:29577413..49434409 [GRCh37] Chr8:29633332..49596962 [NCBI36] Chr8:8p12-q11.21	pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	copy number gain	See cases [RCV000050904]	Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	copy number loss	See cases [RCV000054237]	Chr8:24910364..31210737 [GRCh38] Chr8:24767877..31068253 [GRCh37] Chr8:24823781..31187795 [NCBI36] Chr8:8p21.2-12	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	copy number loss	See cases [RCV000136120]	Chr8:24910364..31196357 [GRCh38] Chr8:24767877..31053873 [GRCh37] Chr8:24823781..31173415 [NCBI36] Chr8:8p21.2-12	pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	copy number loss	See cases [RCV000136878]	Chr8:29362097..40231708 [GRCh38] Chr8:29219614..40089227 [GRCh37] Chr8:29275533..40208384 [NCBI36] Chr8:8p12-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	copy number loss	See cases [RCV000138081]	Chr8:25171103..31750600 [GRCh38] Chr8:25028618..31608116 [GRCh37] Chr8:25084535..31727658 [NCBI36] Chr8:8p21.2-12	pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p12(chr8:30368765-36421541)x3	copy number gain	See cases [RCV000139926]	Chr8:30368765..36421541 [GRCh38] Chr8:30226281..36279059 [GRCh37] Chr8:30345823..36398222 [NCBI36] Chr8:8p12	uncertain significance
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro)	single nucleotide variant	Trichothiodystrophy 6, nonphotosensitive [RCV000211060]	Chr8:30612400 [GRCh38] Chr8:30469917 [GRCh37] Chr8:8p12	pathogenic
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr)	single nucleotide variant	Trichothiodystrophy 6, nonphotosensitive [RCV000211077]	Chr8:30607141 [GRCh38] Chr8:30464658 [GRCh37] Chr8:8p12	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	copy number gain	See cases [RCV000446588]	Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	copy number gain	See cases [RCV000448582]	Chr8:24514488..34808438 [GRCh37] Chr8:8p21.2-12	pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	copy number loss	not provided [RCV000509389]	Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12	not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	copy number gain	See cases [RCV000510571]	Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	copy number gain	See cases [RCV000510899]	Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	copy number gain	not provided [RCV000683043]	Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p12(chr8:30335124-33770070)x1	copy number loss	not provided [RCV000683024]	Chr8:30335124..33770070 [GRCh37] Chr8:8p12	pathogenic
GRCh37/hg19 8p12(chr8:29103983-35728509)x1	copy number loss	not provided [RCV000846377]	Chr8:29103983..35728509 [GRCh37] Chr8:8p12	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_002095.6(GTF2E2):c.759+159G>A	single nucleotide variant	not provided [RCV001707069]	Chr8:30580122 [GRCh38] Chr8:30437639 [GRCh37] Chr8:8p12	benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	copy number gain	not provided [RCV000762735]	Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12	likely pathogenic
NM_002095.6(GTF2E2):c.377A>G (p.Asn126Ser)	single nucleotide variant	not provided [RCV001888973]	Chr8:30612471 [GRCh38] Chr8:30469988 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.525G>T (p.Leu175=)	single nucleotide variant	not provided [RCV000915205]	Chr8:30612323 [GRCh38] Chr8:30469840 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.549+5T>C	single nucleotide variant	not provided [RCV000880453]	Chr8:30612294 [GRCh38] Chr8:30469811 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg)	single nucleotide variant	not provided [RCV000888459]	Chr8:30612300 [GRCh38] Chr8:30469817 [GRCh37] Chr8:8p12	likely benign
Single allele	duplication	not provided [RCV000768452]	Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12	likely pathogenic
NM_002095.6(GTF2E2):c.585C>T (p.Pro195=)	single nucleotide variant	not provided [RCV000919780]	Chr8:30607115 [GRCh38] Chr8:30464632 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.135T>C (p.His45=)	single nucleotide variant	not provided [RCV000902027]	Chr8:30653464 [GRCh38] Chr8:30510981 [GRCh37] Chr8:8p12	likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_002095.6(GTF2E2):c.760-225G>A	single nucleotide variant	not provided [RCV001670287]	Chr8:30579262 [GRCh38] Chr8:30436779 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.367-108A>G	single nucleotide variant	not provided [RCV001716403]	Chr8:30612589 [GRCh38] Chr8:30470106 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.367-120T>C	single nucleotide variant	not provided [RCV001620718]	Chr8:30612601 [GRCh38] Chr8:30470118 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.366+10T>G	single nucleotide variant	not provided [RCV000905396]	Chr8:30614598 [GRCh38] Chr8:30472115 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.370T>C (p.Leu124=)	single nucleotide variant	not provided [RCV000908976]	Chr8:30612478 [GRCh38] Chr8:30469995 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.259-335del	deletion	not provided [RCV001687491]	Chr8:30615050 [GRCh38] Chr8:30472567 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.-4-181G>A	single nucleotide variant	not provided [RCV001635719]	Chr8:30653783 [GRCh38] Chr8:30511300 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.550-125A>T	single nucleotide variant	not provided [RCV001638433]	Chr8:30607275 [GRCh38] Chr8:30464792 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.549+102A>G	single nucleotide variant	not provided [RCV001693385]	Chr8:30612197 [GRCh38] Chr8:30469714 [GRCh37] Chr8:8p12	benign
GRCh37/hg19 8p12(chr8:30308545-30873238)x3	copy number gain	not provided [RCV001259471]	Chr8:30308545..30873238 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.398T>C (p.Ile133Thr)	single nucleotide variant	not provided [RCV001316956]	Chr8:30612450 [GRCh38] Chr8:30469967 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.73C>T (p.Arg25Cys)	single nucleotide variant	not provided [RCV001297111]	Chr8:30653526 [GRCh38] Chr8:30511043 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.433G>A (p.Val145Met)	single nucleotide variant	not provided [RCV001326429]	Chr8:30612415 [GRCh38] Chr8:30469932 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.548A>T (p.Lys183Met)	single nucleotide variant	not provided [RCV001346806]	Chr8:30612300 [GRCh38] Chr8:30469817 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.277G>A (p.Asp93Asn)	single nucleotide variant	not provided [RCV001296699]	Chr8:30614697 [GRCh38] Chr8:30472214 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.272G>A (p.Arg91Gln)	single nucleotide variant	not provided [RCV001340310]	Chr8:30614702 [GRCh38] Chr8:30472219 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.93ATC[3] (p.Ser36del)	microsatellite	not provided [RCV001315703]	Chr8:30653495..30653497 [GRCh38] Chr8:30511012..30511014 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.549+11T>G	single nucleotide variant	Trichothiodystrophy 6, nonphotosensitive [RCV001702910]\|not provided [RCV001522367]	Chr8:30612288 [GRCh38] Chr8:30469805 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.550-53del	deletion	not provided [RCV001682272]	Chr8:30607203 [GRCh38] Chr8:30464720 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.760-298G>A	single nucleotide variant	not provided [RCV001674378]	Chr8:30579335 [GRCh38] Chr8:30436852 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.550-66dup	duplication	not provided [RCV001537502]	Chr8:30607202..30607203 [GRCh38] Chr8:30464719..30464720 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.568C>T (p.Leu190=)	single nucleotide variant	not provided [RCV001484552]	Chr8:30607132 [GRCh38] Chr8:30464649 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.473A>G (p.His158Arg)	single nucleotide variant	not provided [RCV001873840]	Chr8:30612375 [GRCh38] Chr8:30469892 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.127G>T (p.Val43Leu)	single nucleotide variant	not provided [RCV001950448]	Chr8:30653472 [GRCh38] Chr8:30510989 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.111GAA[2] (p.Lys40del)	microsatellite	not provided [RCV001964677]	Chr8:30653480..30653482 [GRCh38] Chr8:30510997..30510999 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.533C>T (p.Ser178Phe)	single nucleotide variant	not provided [RCV001913055]	Chr8:30612315 [GRCh38] Chr8:30469832 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.832G>T (p.Ala278Ser)	single nucleotide variant	not provided [RCV001983298]	Chr8:30578965 [GRCh38] Chr8:30436482 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.142T>C (p.Ser48Pro)	single nucleotide variant	not provided [RCV001944558]	Chr8:30653457 [GRCh38] Chr8:30510974 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.866C>G (p.Ser289Cys)	single nucleotide variant	not provided [RCV002014757]	Chr8:30578931 [GRCh38] Chr8:30436448 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.590A>G (p.Lys197Arg)	single nucleotide variant	not provided [RCV001923256]	Chr8:30607110 [GRCh38] Chr8:30464627 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.766A>G (p.Ile256Val)	single nucleotide variant	not provided [RCV001887418]	Chr8:30579031 [GRCh38] Chr8:30436548 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.103T>A (p.Ser35Thr)	single nucleotide variant	not provided [RCV001932039]	Chr8:30653496 [GRCh38] Chr8:30511013 [GRCh37] Chr8:8p12	uncertain significance
NC_000008.10:g.(?_30510930)_(30511115_?)del	deletion	not provided [RCV001976355]	Chr8:30510930..30511115 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.109A>G (p.Lys37Glu)	single nucleotide variant	not provided [RCV002009576]	Chr8:30653490 [GRCh38] Chr8:30511007 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.749C>G (p.Pro250Arg)	single nucleotide variant	not provided [RCV001916119]	Chr8:30580291 [GRCh38] Chr8:30437808 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.58C>G (p.Pro20Ala)	single nucleotide variant	not provided [RCV001977784]	Chr8:30653541 [GRCh38] Chr8:30511058 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.143C>T (p.Ser48Leu)	single nucleotide variant	not provided [RCV001989732]	Chr8:30653456 [GRCh38] Chr8:30510973 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.484G>A (p.Gly162Arg)	single nucleotide variant	not provided [RCV001881338]	Chr8:30612364 [GRCh38] Chr8:30469881 [GRCh37] Chr8:8p12	uncertain significance
NC_000008.10:g.(?_30469796)_(30472252_?)del	deletion	not provided [RCV001917944]	Chr8:30469796..30472252 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.688G>A (p.Glu230Lys)	single nucleotide variant	not provided [RCV001918438]	Chr8:30580352 [GRCh38] Chr8:30437869 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.74G>A (p.Arg25His)	single nucleotide variant	not provided [RCV001997987]	Chr8:30653525 [GRCh38] Chr8:30511042 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.403G>A (p.Gly135Arg)	single nucleotide variant	not provided [RCV002034058]	Chr8:30612445 [GRCh38] Chr8:30469962 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.549+6C>T	single nucleotide variant	not provided [RCV002018028]	Chr8:30612293 [GRCh38] Chr8:30469810 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.673G>A (p.Val225Ile)	single nucleotide variant	not provided [RCV001916131]	Chr8:30580367 [GRCh38] Chr8:30437884 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.412G>A (p.Ala138Thr)	single nucleotide variant	not provided [RCV001870192]	Chr8:30612436 [GRCh38] Chr8:30469953 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.101C>T (p.Ser34Leu)	single nucleotide variant	not provided [RCV001997989]	Chr8:30653498 [GRCh38] Chr8:30511015 [GRCh37] Chr8:8p12	uncertain significance
NC_000008.10:g.(?_30436438)_(31030618_?)dup	duplication	not provided [RCV001975849]	Chr8:30436438..31030618 [GRCh37] Chr8:8p12	uncertain significance
NM_002095.6(GTF2E2):c.167-4G>A	single nucleotide variant	not provided [RCV002087938]	Chr8:30635127 [GRCh38] Chr8:30492644 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.687C>T (p.Asp229=)	single nucleotide variant	not provided [RCV002109269]	Chr8:30580353 [GRCh38] Chr8:30437870 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.657G>A (p.Leu219=)	single nucleotide variant	not provided [RCV002076331]	Chr8:30580383 [GRCh38] Chr8:30437900 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.849T>C (p.Asp283=)	single nucleotide variant	not provided [RCV002190738]	Chr8:30578948 [GRCh38] Chr8:30436465 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.759+8A>G	single nucleotide variant	not provided [RCV002078495]	Chr8:30580273 [GRCh38] Chr8:30437790 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.550-11C>A	single nucleotide variant	not provided [RCV002134523]	Chr8:30607161 [GRCh38] Chr8:30464678 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.258+8C>G	single nucleotide variant	not provided [RCV002151443]	Chr8:30635024 [GRCh38] Chr8:30492541 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.198T>C (p.Ala66=)	single nucleotide variant	not provided [RCV002115832]	Chr8:30635092 [GRCh38] Chr8:30492609 [GRCh37] Chr8:8p12	benign
NM_002095.6(GTF2E2):c.546C>T (p.Val182=)	single nucleotide variant	not provided [RCV002196024]	Chr8:30612302 [GRCh38] Chr8:30469819 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.549+14T>C	single nucleotide variant	not provided [RCV002072785]	Chr8:30612285 [GRCh38] Chr8:30469802 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.451C>T (p.Leu151=)	single nucleotide variant	not provided [RCV002212964]	Chr8:30612397 [GRCh38] Chr8:30469914 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.258+13C>T	single nucleotide variant	not provided [RCV002128628]	Chr8:30635019 [GRCh38] Chr8:30492536 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.549+10_549+11delinsTG	indel	not provided [RCV002171150]	Chr8:30612288..30612289 [GRCh38] Chr8:30469805..30469806 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.282G>A (p.Thr94=)	single nucleotide variant	not provided [RCV002216726]	Chr8:30614692 [GRCh38] Chr8:30472209 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.420G>A (p.Lys140=)	single nucleotide variant	not provided [RCV002161632]	Chr8:30612428 [GRCh38] Chr8:30469945 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.30G>A (p.Glu10=)	single nucleotide variant	not provided [RCV002157623]	Chr8:30653569 [GRCh38] Chr8:30511086 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.318A>C (p.Thr106=)	single nucleotide variant	not provided [RCV002200400]	Chr8:30614656 [GRCh38] Chr8:30472173 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.213T>C (p.Ser71=)	single nucleotide variant	not provided [RCV002123423]	Chr8:30635077 [GRCh38] Chr8:30492594 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.366+16A>G	single nucleotide variant	not provided [RCV002143675]	Chr8:30614592 [GRCh38] Chr8:30472109 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.264G>A (p.Arg88=)	single nucleotide variant	not provided [RCV002119482]	Chr8:30614710 [GRCh38] Chr8:30472227 [GRCh37] Chr8:8p12	likely benign
NM_002095.6(GTF2E2):c.144G>A (p.Ser48=)	single nucleotide variant	not provided [RCV002144229]	Chr8:30653455 [GRCh38] Chr8:30510972 [GRCh37] Chr8:8p12	benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4651	AgrOrtholog
COSMIC	GTF2E2	COSMIC
Ensembl Genes	ENSG00000197265	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000348168	ENTREZGENE
	ENSP00000348168.4	UniProtKB/Swiss-Prot
	ENSP00000428981.1	UniProtKB/TrEMBL
	ENSP00000429312.1	UniProtKB/TrEMBL
	ENSP00000429921	ENTREZGENE
	ENSP00000429921.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000355904	ENTREZGENE
	ENST00000355904.9	UniProtKB/Swiss-Prot
	ENST00000518445.1	UniProtKB/TrEMBL
	ENST00000518599	ENTREZGENE
	ENST00000518599.5	UniProtKB/TrEMBL
	ENST00000523499.5	UniProtKB/TrEMBL
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000197265	GTEx
HGNC ID	HGNC:4651	ENTREZGENE
Human Proteome Map	GTF2E2	Human Proteome Map
InterPro	TFA2_Winged_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TFIIE-bsu	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TFIIE_bsu_DNA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2961	UniProtKB/Swiss-Prot
NCBI Gene	2961	ENTREZGENE
OMIM	189964	OMIM
	616943	OMIM
PANTHER	PTHR12716	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TFA2_Winged_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TFIIE_beta	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA29037	PharmGKB
PIRSF	TFIIE-beta	UniProtKB/Swiss-Prot
PROSITE	TFIIE_BETA_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	E5RH41_HUMAN	UniProtKB/TrEMBL
	E5RIW4_HUMAN	UniProtKB/TrEMBL
	E5RK24_HUMAN	UniProtKB/TrEMBL
	P29084	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	D3DSV2	UniProtKB/Swiss-Prot
	Q9H2B9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	GTF2E2	general transcription factor IIE subunit 2		general transcription factor IIE, polypeptide 2, beta 34kDa	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

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Imported Human Phenotype Annotations - HPO