WARS1 (tryptophanyl-tRNA synthetase 1)

Gene: WARS1 (tryptophanyl-tRNA synthetase 1) Homo sapiens

Analyze

Symbol:

WARS1

Name:

tryptophanyl-tRNA synthetase 1

RGD ID:

1317961

HGNC Page

HGNC:12729

Description:

Enables several functions, including kinase inhibitor activity; protein homodimerization activity; and tryptophan-tRNA ligase activity. Involved in positive regulation of gene expression; positive regulation of protein-containing complex assembly; and regulation of angiogenesis. Located in cytosol and nucleus. Part of protein-containing complex. Implicated in autosomal dominant distal hereditary motor neuronopathy 9.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GAMMA-2; HMN9; HMND9; hWRS; IFI53; IFP53; interferon-induced protein 53; NEDMSBA; trpRS; tryptophan tRNA ligase 1, cytoplasmic; tryptophan--tRNA ligase; tryptophan--tRNA ligase, cytoplasmic; tryptophanyl-tRNA synthetase; tryptophanyl-tRNA synthetase, cytoplasmic; WARS

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Wars1 (tryptophanyl-tRNA synthetase1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Wars1 (tryptophanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Wars1 (tryptophanyl-tRNA synthetase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	WARS1 (tryptophanyl-tRNA synthetase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	WARS1 (tryptophanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Wars1 (tryptophanyl-tRNA synthetase 1)	NCBI	Ortholog
Sus scrofa (pig):	WARS1 (tryptophanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	WARS1 (tryptophanyl-tRNA synthetase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Wars1 (tryptophanyl-tRNA synthetase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Wars1 (tryptophanyl-tRNA synthetase 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Wars1 (tryptophanyl-tRNA synthetase1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	wars (tryptophanyl-tRNA synthetase)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	TrpRS	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	WRS1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	wars-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	wars1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	wars1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	wars1.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

WARS1P1

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	14	100,333,790 - 100,376,327 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	100,333,790 - 100,376,805 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	100,800,127 - 100,842,664 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	99,869,878 - 99,912,433 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	99,869,877 - 99,911,680	NCBI
Celera	14	80,854,751 - 80,897,310 (-)	NCBI		Celera
Cytogenetic Map	14	q32.2	NCBI
HuRef	14	80,981,470 - 81,024,059 (-)	NCBI		HuRef
CHM1_1	14	100,737,895 - 100,780,446 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant distal hereditary motor neuronopathy 9 (IAGP)

Developmental Disabilities (IAGP)

genetic disease (IAGP)

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES (IAGP)

schizophrenia (IAGP)

thyroid gland papillary carcinoma (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-epigallocatechin 3-gallate (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

1,4-dichlorobenzene (ISO)

1-nitropyrene (EXP)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

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

2,4,6-trinitrotoluene (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

4-amino-2,6-dinitrotoluene (ISO)

4-hydroxyphenyl retinamide (EXP,ISO)

5-fluorouracil (EXP)

acetylsalicylic acid (EXP)

acrylamide (EXP,ISO)

all-trans-retinoic acid (EXP)

AM-251 (EXP)

antimycin A (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

atrazine (EXP)

benzatropine (EXP)

benzo[a]pyrene (EXP)

bicalutamide (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

Brodifacoum (ISO)

butan-1-ol (EXP)

cadmium dichloride (EXP,ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

chloroacetaldehyde (EXP)

chlorpromazine (ISO)

cidofovir anhydrous (EXP)

cisplatin (EXP)

clodronic acid (EXP)

clofibric acid (ISO)

clozapine (EXP)

cobalt dichloride (EXP,ISO)

cocaine (ISO)

copper(II) sulfate (EXP)

corticosterone (ISO)

Cuprizon (EXP)

cyclosporin A (EXP,ISO)

deguelin (EXP)

deoxynivalenol (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

diethylstilbestrol (EXP)

dioxygen (EXP)

disodium selenite (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

ellagic acid (EXP)

endosulfan (ISO)

enzyme inhibitor (EXP)

estriol (EXP)

estrone (EXP)

ethyl methanesulfonate (EXP)

fenpyroximate (EXP)

FR900359 (EXP)

gallic acid (EXP)

genistein (EXP)

gentamycin (ISO)

glafenine (ISO)

haloperidol (EXP)

ibuprofen (ISO)

ifosfamide (EXP)

ivermectin (EXP)

L-ascorbic acid (EXP)

lamivudine (EXP)

lead diacetate (ISO)

lipopolysaccharide (EXP)

metformin (ISO)

methylmercury chloride (EXP)

mitoxantrone (EXP)

N-methyl-4-phenylpyridinium (EXP,ISO)

N-methyl-N'-nitro-N-nitrosoguanidine (EXP)

nickel atom (EXP)

Nonylphenol (EXP)

paracetamol (EXP,ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

phenylmercury acetate (EXP)

picoxystrobin (EXP)

piroxicam (EXP)

potassium bromate (EXP)

potassium chromate (EXP)

Propiverine (ISO)

pyrimidifen (EXP)

resveratrol (EXP,ISO)

rotenone (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

sunitinib (EXP)

T-2 toxin (EXP)

tamibarotene (EXP)

tamoxifen (EXP)

temozolomide (EXP)

tetrachloromethane (ISO)

thapsigargin (EXP,ISO)

thifluzamide (EXP)

thioacetamide (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

zidovudine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

angiogenesis (IEA)

negative regulation of cell population proliferation (TAS)

positive regulation of gene expression (IDA)

positive regulation of protein-containing complex assembly (IMP)

regulation of angiogenesis (IDA)

translation (IEA,TAS)

tRNA aminoacylation for protein translation (IEA)

tryptophanyl-tRNA aminoacylation (IBA,IEA,NAS,TAS)

Cellular Component

cytoplasm (IBA,IEA,TAS)

cytosol (IDA,TAS)

extracellular exosome (HDA)

nucleus (HDA,IDA)

protein-containing complex (IMP)

Molecular Function

aminoacyl-tRNA ligase activity (IEA)

ATP binding (IEA)

kinase inhibitor activity (IDA)

ligase activity (IEA)

protein binding (IPI)

protein domain specific binding (IPI)

protein homodimerization activity (IDA)

protein kinase binding (IPI)

tryptophan-tRNA ligase activity (IBA,IEA,IMP,NAS)

Molecular Pathway Annotations Click to see Annotation Detail View

tryptophan metabolic pathway (EXP,IEA)

External Pathway Database Links

KEGG Pathway

Tryptophan metabolism

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cortical bone morphology (IAGP)

Absent Achilles reflex (IAGP)

Absent patellar reflexes (IAGP)

Absent speech (IAGP)

Agenesis of corpus callosum (IAGP)

Ataxia (IAGP)

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Bilateral tonic-clonic seizure (IAGP)

Congenital onset (IAGP)

Delayed CNS myelination (IAGP)

Delayed speech and language development (IAGP)

Difficulty walking (IAGP)

Distal lower limb amyotrophy (IAGP)

Distal lower limb muscle weakness (IAGP)

Distal upper limb amyotrophy (IAGP)

Distal upper limb muscle weakness (IAGP)

Dysplastic corpus callosum (IAGP)

Global developmental delay (IAGP)

Gray matter heterotopia (IAGP)

Growth delay (IAGP)

Hyperintensity of cerebral white matter on MRI (IAGP)

Hyperreflexia (IAGP)

Hypoplasia of the frontal lobes (IAGP)

Hyporeflexia (IAGP)

Hypotonia (IAGP)

Inability to walk (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Intellectual disability, severe (IAGP)

Juvenile onset (IAGP)

Large earlobe (IAGP)

Leukoencephalopathy (IAGP)

Long palpebral fissure (IAGP)

Microcephaly (IAGP)

Motor axonal neuropathy (IAGP)

Pachygyria (IAGP)

Pes cavus (IAGP)

Prominent nasal bridge (IAGP)

Prominent nose (IAGP)

Reduced cerebral white matter volume (IAGP)

Schizophrenia (IAGP)

Secondary microcephaly (IAGP)

Seizure (IAGP)

Short stature (IAGP)

Sloping forehead (IAGP)

Slowly progressive (IAGP)

Spasticity (IAGP)

Synophrys (IAGP)

Thin upper lip vermilion (IAGP)

Unilateral renal agenesis (IAGP)

Unsteady gait (IAGP)

Upslanted palpebral fissure (IAGP)

Ventriculomegaly (IAGP)

Vesicoureteral reflux (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1286667	PMID:1373391	PMID:1537332	PMID:1761529	PMID:1763065	PMID:1765274	PMID:7685728	PMID:7925483	PMID:8496617	PMID:8646895	PMID:8724762	PMID:8864140
PMID:9731757	PMID:11474204	PMID:11773625	PMID:11773626	PMID:11829477	PMID:11834741	PMID:12416978	PMID:12477932	PMID:14630953	PMID:14660560	PMID:14671330	PMID:14702039
PMID:15489334	PMID:15628863	PMID:15939065	PMID:16009940	PMID:16083285	PMID:16130169	PMID:16169070	PMID:16341674	PMID:16702215	PMID:16724112	PMID:16798914	PMID:17877375
PMID:17999956	PMID:18180246	PMID:19363598	PMID:19768679	PMID:19900940	PMID:19913121	PMID:20010843	PMID:20301532	PMID:20458337	PMID:20562859	PMID:20628086	PMID:20963594
PMID:21044950	PMID:21442253	PMID:21630459	PMID:21832049	PMID:21873635	PMID:21900206	PMID:21926542	PMID:22079093	PMID:22504299	PMID:22586326	PMID:22863883	PMID:22939629
PMID:22990118	PMID:23463506	PMID:23533145	PMID:23651343	PMID:23670221	PMID:24515434	PMID:25515538	PMID:25921289	PMID:26209610	PMID:26344197	PMID:26641092	PMID:26885983
PMID:27432908	PMID:27591049	PMID:27748732	PMID:28190767	PMID:28369220	PMID:28675297	PMID:29467282	PMID:29511261	PMID:29666190	PMID:29791485	PMID:29955894	PMID:30153112
PMID:30196744	PMID:30355684	PMID:30463901	PMID:30575818	PMID:30809309	PMID:30948266	PMID:30995489	PMID:31033497	PMID:31091453	PMID:31519766	PMID:31540324	PMID:31786502
PMID:31980649	PMID:32513696	PMID:32529326	PMID:32707033	PMID:32850835	PMID:32899943	PMID:32994395	PMID:33024031	PMID:33397691	PMID:33545068	PMID:33567341	PMID:33754909
PMID:33916271	PMID:34315543	PMID:34597346	PMID:35013556	PMID:35256949	PMID:35446349	PMID:35509820	PMID:35545034	PMID:35696571	PMID:35790048	PMID:35815345	PMID:35831314
PMID:35906200	PMID:35914814	PMID:35944360	PMID:36042349	PMID:36215168	PMID:36232890	PMID:36517590	PMID:36537216	PMID:37567323	PMID:37774976	PMID:37827155	PMID:37895133
PMID:38113892	PMID:38247871

Genomics

Comparative Map Data

WARS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	100,333,790 - 100,376,805 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	100,800,127 - 100,842,664 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	99,869,878 - 99,912,433 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	99,869,877 - 99,911,680	NCBI
Celera	14	80,854,751 - 80,897,310 (-)	NCBI		Celera
Cytogenetic Map	14	q32.2	NCBI
HuRef	14	80,981,470 - 81,024,059 (-)	NCBI		HuRef
CHM1_1	14	100,737,895 - 100,780,446 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI		T2T-CHM13v2.0

Wars1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	108,825,956 - 108,860,095 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	108,825,956 - 108,860,100 (-)	Ensembl		GRCm39 Ensembl
GRCm38	12	108,860,030 - 108,894,175 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	108,860,030 - 108,894,174 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	110,098,240 - 110,132,384 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	109,307,841 - 109,341,004 (-)	NCBI		MGSCv36	mm8
Celera	12	110,098,849 - 110,127,409 (-)	NCBI		Celera
Cytogenetic Map	12	F1	NCBI
cM Map	12	59.66	NCBI

Wars1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	133,540,463 - 133,571,645 (-)	NCBI		GRCr8
mRatBN7.2	6	127,776,088 - 127,807,273 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	127,776,090 - 127,807,269 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	127,899,086 - 127,930,096 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	128,194,132 - 128,225,140 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	127,553,503 - 127,584,499 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	132,771,026 - 132,802,262 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	132,771,021 - 132,802,210 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	141,941,102 - 141,972,312 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	133,200,866 - 133,232,048 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	133,207,052 - 133,238,235 (-)	NCBI
Celera	6	125,326,985 - 125,358,157 (-)	NCBI		Celera
Cytogenetic Map	6	q32	NCBI

Wars1
(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_004955438	21,414,815 - 21,445,042 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955438	21,414,878 - 21,445,417 (-)	NCBI	ChiLan1.0	ChiLan1.0

WARS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	15	101,485,389 - 101,526,405 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	100,701,881 - 100,742,894 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	80,954,852 - 80,996,316 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	100,268,845 - 100,310,662 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	100,268,845 - 100,310,662 (-)	Ensembl	panpan1.1		panPan2

WARS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	68,610,105 - 68,644,616 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	68,610,090 - 68,643,467 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	68,128,827 - 68,162,983 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	68,893,954 - 68,928,323 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	68,893,953 - 68,928,235 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	68,555,815 - 68,590,006 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	68,621,956 - 68,656,146 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	69,019,419 - 69,053,607 (-)	NCBI		UU_Cfam_GSD_1.0

Wars1
(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_024408640	6,065,559 - 6,097,465 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936604	3,984,872 - 4,016,911 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936604	3,985,002 - 4,016,870 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

WARS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	121,212,981 - 121,238,113 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	121,212,981 - 121,238,144 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	128,677,569 - 128,702,996 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

WARS1
(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	24	78,296,154 - 78,340,683 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	78,295,741 - 78,339,732 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666053	65,436,415 - 65,479,619 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Wars1
(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_004624734	3,782,733 - 3,817,852 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624734	3,777,866 - 3,815,369 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in WARS1
57 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	copy number loss	See cases [RCV000050938]	Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	copy number loss	See cases [RCV000050696]	Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2(chr14:100031805-100808500)x1	copy number loss	See cases [RCV000051949]	Chr14:100031805..100808500 [GRCh38] Chr14:100498142..101274837 [GRCh37] Chr14:99567895..100344590 [NCBI36] Chr14:14q32.2	uncertain significance
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	copy number gain	See cases [RCV000052295]	Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|See cases [RCV000052298]	Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q32.2(chr14:97210132-100471765)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052090]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052090]\|See cases [RCV000052090]	Chr14:97210132..100471765 [GRCh38] Chr14:97676469..100938102 [GRCh37] Chr14:96746222..100007855 [NCBI36] Chr14:14q32.2	uncertain significance
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3	copy number gain	See cases [RCV000052294]	Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	copy number gain	See cases [RCV000052296]	Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	copy number loss	See cases [RCV000133831]	Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	copy number gain	See cases [RCV000135410]	Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	copy number gain	See cases [RCV000135400]	Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	copy number gain	See cases [RCV000135875]	Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	copy number gain	See cases [RCV000135896]	Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	copy number loss	See cases [RCV000136032]	Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	copy number gain	See cases [RCV000138230]	Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	copy number loss	See cases [RCV000139723]	Chr14:100262836..102500697 [GRCh38] Chr14:100729173..102967034 [GRCh37] Chr14:99798926..102036787 [NCBI36] Chr14:14q32.2-32.31	pathogenic
GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3	copy number gain	See cases [RCV000140891]	Chr14:100236766..100743192 [GRCh38] Chr14:100703103..101209529 [GRCh37] Chr14:99772856..100279282 [NCBI36] Chr14:14q32.2	uncertain significance
GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	copy number loss	See cases [RCV000141596]	Chr14:99794337..100944567 [GRCh38] Chr14:100260674..101410904 [GRCh37] Chr14:99330427..100480657 [NCBI36] Chr14:14q32.2-32.31	pathogenic
GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	copy number loss	See cases [RCV000142774]	Chr14:99930669..101022599 [GRCh38] Chr14:100397006..101488936 [GRCh37] Chr14:99466759..100558689 [NCBI36] Chr14:14q32.2-32.31	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	copy number gain	not provided [RCV000767752]	Chr14:100575917..107281934 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3	copy number gain	See cases [RCV000446497]	Chr14:98051841..107285437 [GRCh37] Chr14:14q32.2-32.33	likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	copy number loss	See cases [RCV000511171]	Chr14:100661319..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	copy number gain	See cases [RCV000512497]	Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33	pathogenic
NM_004184.4(WARS1):c.770A>G (p.His257Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV000509593]\|See cases [RCV001197135]	Chr14:100346802 [GRCh38] Chr14:100813139 [GRCh37] Chr14:14q32.2	pathogenic\|likely pathogenic
GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3	copy number gain	not provided [RCV000683622]	Chr14:98924025..101159952 [GRCh37] Chr14:14q32.2	uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_004184.4(WARS1):c.1255-128C>G	single nucleotide variant	not provided [RCV001610961]	Chr14:100335164 [GRCh38] Chr14:100801501 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.1038C>G (p.Ala346=)	single nucleotide variant	WARS1-related condition [RCV003919044]\|not provided [RCV003312290]	Chr14:100342473 [GRCh38] Chr14:100808810 [GRCh37] Chr14:14q32.2	likely benign
GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	copy number gain	not provided [RCV000767823]	Chr14:99737888..101847855 [GRCh37] Chr14:14q32.2-32.31	likely pathogenic
NM_004184.4(WARS1):c.25C>G (p.Leu9Val)	single nucleotide variant	WARS1-related condition [RCV003926241]\|not provided [RCV000964530]\|not specified [RCV001699486]	Chr14:100369161 [GRCh38] Chr14:100835498 [GRCh37] Chr14:14q32.2	benign\|likely benign
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	copy number gain	not provided [RCV000848687]	Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33	pathogenic
GRCh37/hg19 14q32.2(chr14:100744400-100910248)x3	copy number gain	not provided [RCV000845724]	Chr14:100744400..100910248 [GRCh37] Chr14:14q32.2	uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	copy number gain	not provided [RCV000849272]	Chr14:99794230..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
NM_004184.4(WARS1):c.339C>A (p.Asp113Glu)	single nucleotide variant	Inborn genetic diseases [RCV003240667]	Chr14:100360637 [GRCh38] Chr14:100826974 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.1255-50A>G	single nucleotide variant	not provided [RCV001655443]	Chr14:100335086 [GRCh38] Chr14:100801423 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.826+6A>G	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV002243294]\|WARS1-related condition [RCV003980659]\|not provided [RCV001534396]	Chr14:100346740 [GRCh38] Chr14:100813077 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.423-77C>T	single nucleotide variant	not provided [RCV001641966]	Chr14:100354643 [GRCh38] Chr14:100820980 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.940-157T>A	single nucleotide variant	not provided [RCV001681963]	Chr14:100342728 [GRCh38] Chr14:100809065 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.1003C>T (p.Leu335=)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV002243391]\|WARS1-related condition [RCV003975902]\|not provided [RCV001678014]	Chr14:100342508 [GRCh38] Chr14:100808845 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.1254+35T>C	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV002243376]\|not provided [RCV001660766]	Chr14:100337027 [GRCh38] Chr14:100803364 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.1255-171T>C	single nucleotide variant	not provided [RCV001670100]	Chr14:100335207 [GRCh38] Chr14:100801544 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.1114-116G>T	single nucleotide variant	not provided [RCV001670637]	Chr14:100337318 [GRCh38] Chr14:100803655 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.940-137_940-136dup	duplication	not provided [RCV001654775]	Chr14:100342706..100342707 [GRCh38] Chr14:100809043..100809044 [GRCh37] Chr14:14q32.2	benign
GRCh37/hg19 14q32.2(chr14:100317190-101012999)	copy number loss	Gabriele de Vries syndrome [RCV001004104]	Chr14:100317190..101012999 [GRCh37] Chr14:14q32.2	pathogenic
NM_004184.4(WARS1):c.1114-203G>C	single nucleotide variant	not provided [RCV001681093]	Chr14:100337405 [GRCh38] Chr14:100803742 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.1114-143A>G	single nucleotide variant	not provided [RCV001650421]	Chr14:100337345 [GRCh38] Chr14:100803682 [GRCh37] Chr14:14q32.2	benign
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	copy number loss	See cases [RCV001195078]	Chr14:96829290..107287663 [GRCh37] Chr14:14q32.2-32.33	pathogenic
NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV001200896]	Chr14:100360563 [GRCh38] Chr14:100826900 [GRCh37] Chr14:14q32.2	pathogenic
NM_004184.4(WARS1):c.941A>G (p.Asp314Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV001251628]	Chr14:100342570 [GRCh38] Chr14:100808907 [GRCh37] Chr14:14q32.2	pathogenic
NM_004184.4(WARS1):c.964G>A (p.Asp322Asn)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV001537882]	Chr14:100342547 [GRCh38] Chr14:100808884 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.422+118G>C	single nucleotide variant	not provided [RCV001617294]	Chr14:100360436 [GRCh38] Chr14:100826773 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.100-139A>G	single nucleotide variant	not provided [RCV001695176]	Chr14:100362060 [GRCh38] Chr14:100828397 [GRCh37] Chr14:14q32.2	benign
NM_004184.4(WARS1):c.398G>A (p.Arg133His)	single nucleotide variant	not provided [RCV003238457]	Chr14:100360578 [GRCh38] Chr14:100826915 [GRCh37] Chr14:14q32.2	uncertain significance
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	copy number loss	not provided [RCV001827727]	Chr14:95871795..102457523 [GRCh37] Chr14:14q32.13-32.31	pathogenic
NC_000014.8:g.(?_99375322)_(101142891_?)dup	duplication	not provided [RCV001997468]	Chr14:99375322..101142891 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.713T>A (p.Leu238Gln)	single nucleotide variant	not provided [RCV003234373]	Chr14:100353699 [GRCh38] Chr14:100820036 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.313+5G>A	single nucleotide variant	See cases [RCV002287815]	Chr14:100361703 [GRCh38] Chr14:100828040 [GRCh37] Chr14:14q32.2	likely benign
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_004184.4(WARS1):c.841C>T (p.Pro281Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 9 [RCV002290098]	Chr14:100343373 [GRCh38] Chr14:100809710 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.317G>T (p.Arg106Leu)	single nucleotide variant	Developmental delay [RCV003154295]	Chr14:100360659 [GRCh38] Chr14:100826996 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.827-1253_827-1215del	deletion	Schizophrenia [RCV002463515]	Chr14:100344602..100344640 [GRCh38] Chr14:100810939..100810977 [GRCh37] Chr14:14q32.2	uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	copy number gain	not provided [RCV002472581]	Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33	pathogenic
NM_004184.4(WARS1):c.1230C>T (p.Asp410=)	single nucleotide variant	WARS1-related condition [RCV003933799]\|not provided [RCV002511785]	Chr14:100337086 [GRCh38] Chr14:100803423 [GRCh37] Chr14:14q32.2	benign\|likely benign
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)	single nucleotide variant	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities [RCV003223371]	Chr14:100342514 [GRCh38] Chr14:100808851 [GRCh37] Chr14:14q32.2	pathogenic\|uncertain significance
NM_004184.4(WARS1):c.446C>A (p.Ala149Asp)	single nucleotide variant	Inborn genetic diseases [RCV003188538]	Chr14:100354543 [GRCh38] Chr14:100820880 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.1A>G (p.Met1Val)	single nucleotide variant	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities [RCV003223372]	Chr14:100369185 [GRCh38] Chr14:100835522 [GRCh37] Chr14:14q32.2	pathogenic
NM_004184.4(WARS1):c.1235A>G (p.Lys412Arg)	single nucleotide variant	Inborn genetic diseases [RCV003208820]	Chr14:100337081 [GRCh38] Chr14:100803418 [GRCh37] Chr14:14q32.2	likely benign
NM_004184.4(WARS1):c.435G>T (p.Gln145His)	single nucleotide variant	not provided [RCV003487315]	Chr14:100354554 [GRCh38] Chr14:100820891 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)	single nucleotide variant	Inborn genetic diseases [RCV003205457]\|Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities [RCV003223358]	Chr14:100360579 [GRCh38] Chr14:100826916 [GRCh37] Chr14:14q32.2	pathogenic\|likely pathogenic\|uncertain significance
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)	single nucleotide variant	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities [RCV003223370]	Chr14:100334949 [GRCh38] Chr14:100801286 [GRCh37] Chr14:14q32.2	pathogenic\|uncertain significance
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)	single nucleotide variant	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities [RCV003223373]	Chr14:100335036 [GRCh38] Chr14:100801373 [GRCh37] Chr14:14q32.2	pathogenic
NM_004184.4(WARS1):c.561_564delinsAAA (p.Phe187fs)	indel	not provided [RCV003325055]	Chr14:100353848..100353851 [GRCh38] Chr14:100820185..100820188 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.1297G>A (p.Ala433Thr)	single nucleotide variant	Inborn genetic diseases [RCV003309261]	Chr14:100334994 [GRCh38] Chr14:100801331 [GRCh37] Chr14:14q32.2	likely benign
GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect [RCV003325926]	Chr14:100397006..101488936 [GRCh37] Chr14:14q32.2-32.31	pathogenic
NM_004184.4(WARS1):c.1306G>A (p.Glu436Lys)	single nucleotide variant	not provided [RCV003332701]	Chr14:100334985 [GRCh38] Chr14:100801322 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.1062C>A (p.Asp354Glu)	single nucleotide variant	Inborn genetic diseases [RCV003360242]	Chr14:100342449 [GRCh38] Chr14:100808786 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.316C>T (p.Arg106Trp)	single nucleotide variant	Inborn genetic diseases [RCV003361772]	Chr14:100360660 [GRCh38] Chr14:100826997 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.700A>G (p.Ile234Val)	single nucleotide variant	Inborn genetic diseases [RCV003356188]	Chr14:100353712 [GRCh38] Chr14:100820049 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.817G>A (p.Asp273Asn)	single nucleotide variant	not provided [RCV003456875]	Chr14:100346755 [GRCh38] Chr14:100813092 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.312T>A (p.Ile104=)	single nucleotide variant	not provided [RCV003456876]	Chr14:100361709 [GRCh38] Chr14:100828046 [GRCh37] Chr14:14q32.2	likely benign
GRCh37/hg19 14q32.2(chr14:100744130-100910267)x3	copy number gain	not provided [RCV003485054]	Chr14:100744130..100910267 [GRCh37] Chr14:14q32.2	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	copy number gain	not provided [RCV003485051]	Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33	pathogenic
NM_004184.4(WARS1):c.631G>T (p.Ala211Ser)	single nucleotide variant	not provided [RCV003480098]	Chr14:100353781 [GRCh38] Chr14:100820118 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.1113+9T>C	single nucleotide variant	not provided [RCV003390450]	Chr14:100342389 [GRCh38] Chr14:100808726 [GRCh37] Chr14:14q32.2	likely benign
NM_004184.4(WARS1):c.1348A>C (p.Lys450Gln)	single nucleotide variant	not provided [RCV003390449]	Chr14:100334943 [GRCh38] Chr14:100801280 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.602A>G (p.Tyr201Cys)	single nucleotide variant	not provided [RCV003393618]	Chr14:100353810 [GRCh38] Chr14:100820147 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.669C>T (p.Ile223=)	single nucleotide variant	WARS1-related condition [RCV003954140]\|not provided [RCV003393617]	Chr14:100353743 [GRCh38] Chr14:100820080 [GRCh37] Chr14:14q32.2	likely benign
NM_004184.4(WARS1):c.303T>C (p.Asp101=)	single nucleotide variant	not provided [RCV003393619]	Chr14:100361718 [GRCh38] Chr14:100828055 [GRCh37] Chr14:14q32.2	likely benign
NM_004184.4(WARS1):c.162G>A (p.Ala54=)	single nucleotide variant	not provided [RCV003393620]	Chr14:100361859 [GRCh38] Chr14:100828196 [GRCh37] Chr14:14q32.2	likely benign
GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	copy number gain	not specified [RCV003987047]	Chr14:97705251..103682578 [GRCh37] Chr14:14q32.2-32.32	uncertain significance
GRCh37/hg19 14q32.2(chr14:100678749-101242671)x1	copy number loss	not specified [RCV003987059]	Chr14:100678749..101242671 [GRCh37] Chr14:14q32.2	pathogenic
NM_004184.4(WARS1):c.699C>G (p.Phe233Leu)	single nucleotide variant	WARS1-related condition [RCV003896487]	Chr14:100353713 [GRCh38] Chr14:100820050 [GRCh37] Chr14:14q32.2	uncertain significance
NM_004184.4(WARS1):c.1398G>T (p.Leu466=)	single nucleotide variant	WARS1-related condition [RCV003923934]	Chr14:100334893 [GRCh38] Chr14:100801230 [GRCh37] Chr14:14q32.2	likely benign
NM_004184.4(WARS1):c.875C>T (p.Ser292Leu)	single nucleotide variant	WARS1-related condition [RCV003921593]	Chr14:100343339 [GRCh38] Chr14:100809676 [GRCh37] Chr14:14q32.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	8427
Count of miRNA genes:	1231
Interacting mature miRNAs:	1521
Transcripts:	ENST00000344102, ENST00000355338, ENST00000358655, ENST00000392882, ENST00000553395, ENST00000553413, ENST00000553524, ENST00000553545, ENST00000553581, ENST00000553769, ENST00000553808, ENST00000553934, ENST00000554084, ENST00000554331, ENST00000554509, ENST00000554601, ENST00000554605, ENST00000554772, ENST00000554820, ENST00000554950, ENST00000555031, ENST00000555063, ENST00000555410, ENST00000555464, ENST00000555813, ENST00000556209, ENST00000556295, ENST00000556338, ENST00000556435, ENST00000556504, ENST00000556579, ENST00000556645, ENST00000556660, ENST00000556695, ENST00000556698, ENST00000556783, ENST00000557094, ENST00000557135, ENST00000557239, ENST00000557297, ENST00000557347, ENST00000557614, ENST00000557722
Prediction methods:	Microtar, 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.

Markers in Region

RH65341

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,803,218 - 100,803,401	UniSTS	GRCh37
Build 36	14	99,872,971 - 99,873,154	RGD	NCBI36
Celera	14	80,857,844 - 80,858,027	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	80,984,564 - 80,984,747	UniSTS
GeneMap99-GB4 RH Map	14	279.99	UniSTS
NCBI RH Map	14	1086.1	UniSTS

RH70848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,800,866 - 100,801,004	UniSTS	GRCh37
Build 36	14	99,870,619 - 99,870,757	RGD	NCBI36
Celera	14	80,855,492 - 80,855,630	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	80,982,211 - 80,982,349	UniSTS
GeneMap99-GB4 RH Map	14	277.83	UniSTS
NCBI RH Map	14	1086.1	UniSTS

WI-12109

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,800,835 - 100,800,961	UniSTS	GRCh37
Build 36	14	99,870,588 - 99,870,714	RGD	NCBI36
Celera	14	80,855,461 - 80,855,587	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	80,982,180 - 80,982,306	UniSTS
GeneMap99-GB4 RH Map	14	277.83	UniSTS
Whitehead-RH Map	14	352.6	UniSTS
NCBI RH Map	14	1086.1	UniSTS

RH103649

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,832,135 - 100,832,317	UniSTS	GRCh37
Build 36	14	99,901,888 - 99,902,070	RGD	NCBI36
Celera	14	80,886,770 - 80,886,952	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	81,013,526 - 81,013,708	UniSTS
GeneMap99-GB4 RH Map	14	279.88	UniSTS

WARS_8724

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,800,131 - 100,800,862	UniSTS	GRCh37
Build 36	14	99,869,884 - 99,870,615	RGD	NCBI36
Celera	14	80,854,757 - 80,855,488	RGD
HuRef	14	80,981,476 - 80,982,207	UniSTS

G35834

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,835,348 - 100,835,457	UniSTS	GRCh37
Build 36	14	99,905,101 - 99,905,210	RGD	NCBI36
Celera	14	80,889,982 - 80,890,091	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	81,016,734 - 81,016,843	UniSTS

WI-12287

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,800,151 - 100,800,276	UniSTS	GRCh37
Build 36	14	99,869,904 - 99,870,029	RGD	NCBI36
Celera	14	80,854,777 - 80,854,902	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	80,981,496 - 80,981,621	UniSTS
GeneMap99-GB4 RH Map	14	279.06	UniSTS
Whitehead-RH Map	14	352.6	UniSTS
NCBI RH Map	14	1090.8	UniSTS

RH44843

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	100,808,442 - 100,808,558	UniSTS	GRCh37
Build 36	14	99,878,195 - 99,878,311	RGD	NCBI36
Celera	14	80,863,066 - 80,863,183	RGD
Cytogenetic Map	14	q32.31	UniSTS
HuRef	14	80,989,790 - 80,989,907	UniSTS
GeneMap99-GB4 RH Map	14	277.83	UniSTS
NCBI RH Map	14	1086.1	UniSTS

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

2428

2918

1574

476

1887

319

4340

2180

3237

411

1441

1609

173

1204

2783

Low

152

148

146

495

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_173701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_213645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_213646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005268044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006720249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011537133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011537136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017021627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017021629	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431764	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431765	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK025487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL135838	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL157871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AV710027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG717903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM561448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM834473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ891525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M61715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M77804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S82904	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S82905	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X59892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X62570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X63742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67924	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X82107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000344102 ⟹ ENSP00000339485

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,333,828 - 100,375,608 (-)	Ensembl

RefSeq Acc Id:

ENST00000355338 ⟹ ENSP00000347495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,333,818 - 100,376,805 (-)	Ensembl

RefSeq Acc Id:

ENST00000358655 ⟹ ENSP00000351481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,333,802 - 100,376,335 (-)	Ensembl

RefSeq Acc Id:

ENST00000392882 ⟹ ENSP00000376620

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,333,790 - 100,375,347 (-)	Ensembl

RefSeq Acc Id:

ENST00000553395 ⟹ ENSP00000451490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,346,769 - 100,375,607 (-)	Ensembl

RefSeq Acc Id:

ENST00000553413 ⟹ ENSP00000452550

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,360,654 - 100,376,311 (-)	Ensembl

RefSeq Acc Id:

ENST00000553524 ⟹ ENSP00000451349

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,539 - 100,376,334 (-)	Ensembl

RefSeq Acc Id:

ENST00000553545 ⟹ ENSP00000451716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,730 - 100,375,607 (-)	Ensembl

RefSeq Acc Id:

ENST00000553581 ⟹ ENSP00000452358

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,369,109 - 100,376,308 (-)	Ensembl

RefSeq Acc Id:

ENST00000553769 ⟹ ENSP00000451906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,708 - 100,376,309 (-)	Ensembl

RefSeq Acc Id:

ENST00000553808

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,193 - 100,375,473 (-)	Ensembl

RefSeq Acc Id:

ENST00000553934 ⟹ ENSP00000452379

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,369,087 - 100,375,744 (-)	Ensembl

RefSeq Acc Id:

ENST00000554084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,352,883 - 100,361,923 (-)	Ensembl

RefSeq Acc Id:

ENST00000554331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,302 - 100,376,330 (-)	Ensembl

RefSeq Acc Id:

ENST00000554509 ⟹ ENSP00000451894

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,807 - 100,375,347 (-)	Ensembl

RefSeq Acc Id:

ENST00000554601 ⟹ ENSP00000451891

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,342,050 - 100,346,829 (-)	Ensembl

RefSeq Acc Id:

ENST00000554605 ⟹ ENSP00000450978

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,817 - 100,376,309 (-)	Ensembl

RefSeq Acc Id:

ENST00000554772 ⟹ ENSP00000451469

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,360,603 - 100,376,307 (-)	Ensembl

RefSeq Acc Id:

ENST00000554820 ⟹ ENSP00000450563

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,763 - 100,375,475 (-)	Ensembl

RefSeq Acc Id:

ENST00000554950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,334,927 - 100,354,423 (-)	Ensembl

RefSeq Acc Id:

ENST00000555031 ⟹ ENSP00000450623

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,856 - 100,375,593 (-)	Ensembl

RefSeq Acc Id:

ENST00000555063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,401 - 100,376,343 (-)	Ensembl

RefSeq Acc Id:

ENST00000555410 ⟹ ENSP00000450934

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,560 - 100,375,355 (-)	Ensembl

RefSeq Acc Id:

ENST00000555464

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,370,379 - 100,375,547 (-)	Ensembl

RefSeq Acc Id:

ENST00000555813 ⟹ ENSP00000451953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,831 - 100,375,344 (-)	Ensembl

RefSeq Acc Id:

ENST00000556209 ⟹ ENSP00000451027

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,810 - 100,376,285 (-)	Ensembl

RefSeq Acc Id:

ENST00000556295 ⟹ ENSP00000451377

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,847 - 100,375,467 (-)	Ensembl

RefSeq Acc Id:

ENST00000556338 ⟹ ENSP00000451544

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,445 - 100,375,612 (-)	Ensembl

RefSeq Acc Id:

ENST00000556435 ⟹ ENSP00000452519

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,353,828 - 100,376,302 (-)	Ensembl

RefSeq Acc Id:

ENST00000556504 ⟹ ENSP00000451251

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,346,778 - 100,376,287 (-)	Ensembl

RefSeq Acc Id:

ENST00000556579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,360,524 - 100,376,299 (-)	Ensembl

RefSeq Acc Id:

ENST00000556645 ⟹ ENSP00000451887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,334,493 - 100,376,251 (-)	Ensembl

RefSeq Acc Id:

ENST00000556660 ⟹ ENSP00000451402

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,360,632 - 100,374,942 (-)	Ensembl

RefSeq Acc Id:

ENST00000556695 ⟹ ENSP00000451777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,845 - 100,374,949 (-)	Ensembl

RefSeq Acc Id:

ENST00000556698 ⟹ ENSP00000450427

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,531 - 100,375,347 (-)	Ensembl

RefSeq Acc Id:

ENST00000556783 ⟹ ENSP00000451679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,360,642 - 100,376,305 (-)	Ensembl

RefSeq Acc Id:

ENST00000557094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,703 - 100,375,473 (-)	Ensembl

RefSeq Acc Id:

ENST00000557135 ⟹ ENSP00000451460

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,334,479 - 100,375,347 (-)	Ensembl

RefSeq Acc Id:

ENST00000557239

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,354,531 - 100,376,308 (-)	Ensembl

RefSeq Acc Id:

ENST00000557297 ⟹ ENSP00000451599

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,353,826 - 100,375,333 (-)	Ensembl

RefSeq Acc Id:

ENST00000557347 ⟹ ENSP00000451922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,361,802 - 100,375,475 (-)	Ensembl

RefSeq Acc Id:

ENST00000557614

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,336,841 - 100,342,534 (-)	Ensembl

RefSeq Acc Id:

ENST00000557722 ⟹ ENSP00000450500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,353,774 - 100,376,311 (-)	Ensembl

RefSeq Acc Id:

ENST00000627608 ⟹ ENSP00000487316

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	100,368,442 - 100,369,185 (-)	Ensembl

RefSeq Acc Id:

NM_004184 ⟹ NP_004175

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,375,347 (-)	NCBI
GRCh37	14	100,800,125 - 100,842,680 (-)	ENTREZGENE
Build 36	14	99,869,878 - 99,911,680 (-)	NCBI Archive
HuRef	14	80,981,470 - 81,024,059 (-)	ENTREZGENE
CHM1_1	14	100,737,895 - 100,779,693 (-)	NCBI
T2T-CHM13v2.0	14	94,566,811 - 94,608,445 (-)	NCBI

Sequence:

show sequence

ACTCTCAGCAGCTCAACTGCCCAGCGTGACCAGTGGCCACCTCTGCAGTGTCTTCCACAACCTG
GTCTTGACTCGTCTGCTGAACAAATCCTCTGACCTCAGGCCGGCTGTGAACGTAGTTCCTGAGA
GATAGCAAACATGCCCAACAGTGAGCCCGCATCTCTGCTGGAGCTGTTCAACAGCATCGCCACA
CAAGGGGAGCTCGTAAGGTCCCTCAAAGCGGGAAATGCGTCAAAGGATGAAATTGATTCTGCAG
TAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGAGGATTACAAGGCTGA
CTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAGATGCCACAGAAGCTGAAGAG
GATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAGACTACGATAAGCTCA
TTGTTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAATAGAGAGAGCCACCGG
CCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACACAGAGATATGAATCAGGTT
CTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACACGGGCCGGGGCCCCTCTTCTGAAG
CAATGCATGTAGGTCACCTCATTCCATTTATTTTCACAAAGTGGCTCCAGGATGTATTTAACGT
GCCCTTGGTCATCCAGATGACGGATGACGAGAAGTATCTGTGGAAGGACCTGACCCTGGACCAG
GCCTATAGCTATGCTGTGGAGAATGCCAAGGACATCATCGCCTGTGGCTTTGACATCAACAAGA
CTTTCATATTCTCTGACCTGGACTACATGGGGATGAGCTCAGGTTTCTACAAAAATGTGGTGAA
GATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTTCGGCTTCACTGACAGCGACTGC
ATTGGGAAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTCCTTCAGCAACTCATTCCCACAGA
TCTTCCGAGACAGGACGGATATCCAGTGCCTTATCCCATGTGCCATTGACCAGGATCCTTACTT
TAGAATGACAAGGGACGTCGCCCCCAGGATCGGCTATCCTAAACCAGCCCTGCTGCACTCCACC
TTCTTCCCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAGCGACCCCAACTCCTCCATCT
TCCTCACCGACACGGCCAAGCAGATCAAAACCAAGGTCAATAAGCATGCGTTTTCTGGAGGGAG
AGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATGTGGACGTGTCTTTCATGTAC
CTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAGGAAGGATTACACCAGCGGAG
CCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTGCAGCCCTTGATCGCAGAGCA
CCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGTTCATGACTCCCCGGAAGCTG
TCCTTCGACTTTCAGTAGCACTCGTTTTACATATGCTTATAAAAGAAGTGATGTATCAGTAATG
TATCAATAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAGGCTTCTGTCTCATGGTAATTACT
GGGCCTGGCCTCTGTAAGCCTGTGTATGTTATCAATACTGTTTCTTCCTGTGAGTTCCATTATT
TCTATCTCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTGGCTAACATTGCATGGTCGGATAG
AGAAGTCCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAGTGGAGCCTTTGGCTGGAAGTCCA
TGGGCCACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTCCAAGTATACTCTTAAGACCCACT
CTGTTTAAAAATATATATTCTATGTATGCGTATATGGAATTGAAATGTCATTATTGTAACCTAG
AAAGTGCTTTGAAATATTGATGTGGGGAGGTTTATTGAGCACAAGATGTATTTCAGCCCATGCC
CCCTCCCAAAAAGAAATTGATAAGTAAAAGCTTCGTTATACATTTGACTAAGAAATCACCCAGC
TTTAAAGCTGCTTTTAACAATGAAGATTGAACAGAGTTCAGCAATTTTGATTAAATTAAGACTT
GGGGGTGAAACTTTCCAGTTTACTGAACTCCAGACCATGCATGTAGTCCACTCCAGAAATCATG
CTCGCTTCCCTTGGCACACCAGTGTTCTCCTGCCAAATGACCCTAGACCCTCTGTCCTGCAGAG
TCAGGGTGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAGTCCTGGCCTCCGCAGATGCTTCA
TTTTGACCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTGCCCTGGCTGTGTCCCTGGACGGG
TGGACTTAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAGGCCCTCACAGATGTCTAGGCAGG
CCTCATTTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAAAGCCAAATCTCAGGGAAGTCCTT
GGTTGATGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCCTGTCACCCAGTAGAGTAAATAAA
CTTCCTTGGCTCCTG

hide sequence

RefSeq Acc Id:

NM_173701 ⟹ NP_776049

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI
GRCh37	14	100,800,125 - 100,842,680 (-)	ENTREZGENE
Build 36	14	99,869,878 - 99,912,433 (-)	NCBI Archive
HuRef	14	80,981,470 - 81,024,059 (-)	ENTREZGENE
CHM1_1	14	100,737,895 - 100,780,446 (-)	NCBI
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

Sequence:

show sequence

GTTTCCACGGACGCCCAGGAGACAGCCGGTTGCTGAGCCGGGAGCGCTGACTGGCCCGGCTGGG
CAGGTCTTGACTCGTCTGCTGAACAAATCCTCTGACCTCAGGCCGGCTGTGAACGTAGTTCCTG
AGAGATAGCAAACATGCCCAACAGTGAGCCCGCATCTCTGCTGGAGCTGTTCAACAGCATCGCC
ACACAAGGGGAGCTCGTAAGGTCCCTCAAAGCGGGAAATGCGTCAAAGGATGAAATTGATTCTG
CAGTAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGAGGATTACAAGGC
TGACTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAGATGCCACAGAAGCTGAA
GAGGATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAGACTACGATAAGC
TCATTGTTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAATAGAGAGAGCCAC
CGGCCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACACAGAGATATGAATCAG
GTTCTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACACGGGCCGGGGCCCCTCTTCTG
AAGCAATGCATGTAGGTCACCTCATTCCATTTATTTTCACAAAGTGGCTCCAGGATGTATTTAA
CGTGCCCTTGGTCATCCAGATGACGGATGACGAGAAGTATCTGTGGAAGGACCTGACCCTGGAC
CAGGCCTATAGCTATGCTGTGGAGAATGCCAAGGACATCATCGCCTGTGGCTTTGACATCAACA
AGACTTTCATATTCTCTGACCTGGACTACATGGGGATGAGCTCAGGTTTCTACAAAAATGTGGT
GAAGATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTTCGGCTTCACTGACAGCGAC
TGCATTGGGAAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTCCTTCAGCAACTCATTCCCAC
AGATCTTCCGAGACAGGACGGATATCCAGTGCCTTATCCCATGTGCCATTGACCAGGATCCTTA
CTTTAGAATGACAAGGGACGTCGCCCCCAGGATCGGCTATCCTAAACCAGCCCTGCTGCACTCC
ACCTTCTTCCCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAGCGACCCCAACTCCTCCA
TCTTCCTCACCGACACGGCCAAGCAGATCAAAACCAAGGTCAATAAGCATGCGTTTTCTGGAGG
GAGAGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATGTGGACGTGTCTTTCATG
TACCTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAGGAAGGATTACACCAGCG
GAGCCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTGCAGCCCTTGATCGCAGA
GCACCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGTTCATGACTCCCCGGAAG
CTGTCCTTCGACTTTCAGTAGCACTCGTTTTACATATGCTTATAAAAGAAGTGATGTATCAGTA
ATGTATCAATAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAGGCTTCTGTCTCATGGTAATT
ACTGGGCCTGGCCTCTGTAAGCCTGTGTATGTTATCAATACTGTTTCTTCCTGTGAGTTCCATT
ATTTCTATCTCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTGGCTAACATTGCATGGTCGGA
TAGAGAAGTCCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAGTGGAGCCTTTGGCTGGAAGT
CCATGGGCCACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTCCAAGTATACTCTTAAGACCC
ACTCTGTTTAAAAATATATATTCTATGTATGCGTATATGGAATTGAAATGTCATTATTGTAACC
TAGAAAGTGCTTTGAAATATTGATGTGGGGAGGTTTATTGAGCACAAGATGTATTTCAGCCCAT
GCCCCCTCCCAAAAAGAAATTGATAAGTAAAAGCTTCGTTATACATTTGACTAAGAAATCACCC
AGCTTTAAAGCTGCTTTTAACAATGAAGATTGAACAGAGTTCAGCAATTTTGATTAAATTAAGA
CTTGGGGGTGAAACTTTCCAGTTTACTGAACTCCAGACCATGCATGTAGTCCACTCCAGAAATC
ATGCTCGCTTCCCTTGGCACACCAGTGTTCTCCTGCCAAATGACCCTAGACCCTCTGTCCTGCA
GAGTCAGGGTGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAGTCCTGGCCTCCGCAGATGCT
TCATTTTGACCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTGCCCTGGCTGTGTCCCTGGAC
GGGTGGACTTAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAGGCCCTCACAGATGTCTAGGC
AGGCCTCATTTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAAAGCCAAATCTCAGGGAAGTC
CTTGGTTGATGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCCTGTCACCCAGTAGAGTAAAT
AAACTTCCTTGGCTCCTG

hide sequence

RefSeq Acc Id:

NM_213645 ⟹ NP_998810

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI
GRCh37	14	100,800,125 - 100,842,680 (-)	ENTREZGENE
Build 36	14	99,869,878 - 99,912,433 (-)	NCBI Archive
HuRef	14	80,981,470 - 81,024,059 (-)	ENTREZGENE
CHM1_1	14	100,737,895 - 100,780,446 (-)	NCBI
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

Sequence:

show sequence

GTTTCCACGGACGCCCAGGAGACAGCCGGTTGCTGAGCCGGGAGCGCTGACTGGCCCGGCTGGG
CAGGGATGAAATTGATTCTGCAGTAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCC
GCGGGGGAGGATTACAAGGCTGACTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCC
CAGATGCCACAGAAGCTGAAGAGGATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAA
AGGCATAGACTACGATAAGCTCATTGTTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATA
AACCGAATAGAGAGAGCCACCGGCCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCT
CACACAGAGATATGAATCAGGTTCTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACAC
GGGCCGGGGCCCCTCTTCTGAAGCAATGCATGTAGGTCACCTCATTCCATTTATTTTCACAAAG
TGGCTCCAGGATGTATTTAACGTGCCCTTGGTCATCCAGATGACGGATGACGAGAAGTATCTGT
GGAAGGACCTGACCCTGGACCAGGCCTATAGCTATGCTGTGGAGAATGCCAAGGACATCATCGC
CTGTGGCTTTGACATCAACAAGACTTTCATATTCTCTGACCTGGACTACATGGGGATGAGCTCA
GGTTTCTACAAAAATGTGGTGAAGATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTT
TCGGCTTCACTGACAGCGACTGCATTGGGAAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTC
CTTCAGCAACTCATTCCCACAGATCTTCCGAGACAGGACGGATATCCAGTGCCTTATCCCATGT
GCCATTGACCAGGATCCTTACTTTAGAATGACAAGGGACGTCGCCCCCAGGATCGGCTATCCTA
AACCAGCCCTGCTGCACTCCACCTTCTTCCCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGC
CAGCGACCCCAACTCCTCCATCTTCCTCACCGACACGGCCAAGCAGATCAAAACCAAGGTCAAT
AAGCATGCGTTTTCTGGAGGGAGAGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTG
ATGTGGACGTGTCTTTCATGTACCTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGAT
CAGGAAGGATTACACCAGCGGAGCCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTT
CTGCAGCCCTTGATCGCAGAGCACCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAG
AGTTCATGACTCCCCGGAAGCTGTCCTTCGACTTTCAGTAGCACTCGTTTTACATATGCTTATA
AAAGAAGTGATGTATCAGTAATGTATCAATAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAG
GCTTCTGTCTCATGGTAATTACTGGGCCTGGCCTCTGTAAGCCTGTGTATGTTATCAATACTGT
TTCTTCCTGTGAGTTCCATTATTTCTATCTCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTG
GCTAACATTGCATGGTCGGATAGAGAAGTCCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAG
TGGAGCCTTTGGCTGGAAGTCCATGGGCCACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTC
CAAGTATACTCTTAAGACCCACTCTGTTTAAAAATATATATTCTATGTATGCGTATATGGAATT
GAAATGTCATTATTGTAACCTAGAAAGTGCTTTGAAATATTGATGTGGGGAGGTTTATTGAGCA
CAAGATGTATTTCAGCCCATGCCCCCTCCCAAAAAGAAATTGATAAGTAAAAGCTTCGTTATAC
ATTTGACTAAGAAATCACCCAGCTTTAAAGCTGCTTTTAACAATGAAGATTGAACAGAGTTCAG
CAATTTTGATTAAATTAAGACTTGGGGGTGAAACTTTCCAGTTTACTGAACTCCAGACCATGCA
TGTAGTCCACTCCAGAAATCATGCTCGCTTCCCTTGGCACACCAGTGTTCTCCTGCCAAATGAC
CCTAGACCCTCTGTCCTGCAGAGTCAGGGTGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAG
TCCTGGCCTCCGCAGATGCTTCATTTTGACCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTG
CCCTGGCTGTGTCCCTGGACGGGTGGACTTAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAG
GCCCTCACAGATGTCTAGGCAGGCCTCATTTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAA
AGCCAAATCTCAGGGAAGTCCTTGGTTGATGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCC
TGTCACCCAGTAGAGTAAATAAACTTCCTTGGCTCCTG

hide sequence

RefSeq Acc Id:

NM_213646 ⟹ NP_998811

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,375,347 (-)	NCBI
GRCh37	14	100,800,125 - 100,842,680 (-)	ENTREZGENE
Build 36	14	99,869,878 - 99,911,680 (-)	NCBI Archive
HuRef	14	80,981,470 - 81,024,059 (-)	ENTREZGENE
CHM1_1	14	100,737,895 - 100,779,693 (-)	NCBI
T2T-CHM13v2.0	14	94,566,811 - 94,608,445 (-)	NCBI

Sequence:

show sequence

ACTCTCAGCAGCTCAACTGCCCAGCGTGACCAGTGGCCACCTCTGCAGTGTCTTCCACAACCTG
GGATGAAATTGATTCTGCAGTAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCG
GGGGAGGATTACAAGGCTGACTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAG
ATGCCACAGAAGCTGAAGAGGATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGG
CATAGACTACGATAAGCTCATTGTTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAAC
CGAATAGAGAGAGCCACCGGCCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCAC
ACAGAGATATGAATCAGGTTCTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACACGGG
CCGGGGCCCCTCTTCTGAAGCAATGCATGTAGGTCACCTCATTCCATTTATTTTCACAAAGTGG
CTCCAGGATGTATTTAACGTGCCCTTGGTCATCCAGATGACGGATGACGAGAAGTATCTGTGGA
AGGACCTGACCCTGGACCAGGCCTATAGCTATGCTGTGGAGAATGCCAAGGACATCATCGCCTG
TGGCTTTGACATCAACAAGACTTTCATATTCTCTGACCTGGACTACATGGGGATGAGCTCAGGT
TTCTACAAAAATGTGGTGAAGATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTTCG
GCTTCACTGACAGCGACTGCATTGGGAAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTCCTT
CAGCAACTCATTCCCACAGATCTTCCGAGACAGGACGGATATCCAGTGCCTTATCCCATGTGCC
ATTGACCAGGATCCTTACTTTAGAATGACAAGGGACGTCGCCCCCAGGATCGGCTATCCTAAAC
CAGCCCTGCTGCACTCCACCTTCTTCCCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAG
CGACCCCAACTCCTCCATCTTCCTCACCGACACGGCCAAGCAGATCAAAACCAAGGTCAATAAG
CATGCGTTTTCTGGAGGGAGAGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATG
TGGACGTGTCTTTCATGTACCTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAG
GAAGGATTACACCAGCGGAGCCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTG
CAGCCCTTGATCGCAGAGCACCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGT
TCATGACTCCCCGGAAGCTGTCCTTCGACTTTCAGTAGCACTCGTTTTACATATGCTTATAAAA
GAAGTGATGTATCAGTAATGTATCAATAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAGGCT
TCTGTCTCATGGTAATTACTGGGCCTGGCCTCTGTAAGCCTGTGTATGTTATCAATACTGTTTC
TTCCTGTGAGTTCCATTATTTCTATCTCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTGGCT
AACATTGCATGGTCGGATAGAGAAGTCCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAGTGG
AGCCTTTGGCTGGAAGTCCATGGGCCACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTCCAA
GTATACTCTTAAGACCCACTCTGTTTAAAAATATATATTCTATGTATGCGTATATGGAATTGAA
ATGTCATTATTGTAACCTAGAAAGTGCTTTGAAATATTGATGTGGGGAGGTTTATTGAGCACAA
GATGTATTTCAGCCCATGCCCCCTCCCAAAAAGAAATTGATAAGTAAAAGCTTCGTTATACATT
TGACTAAGAAATCACCCAGCTTTAAAGCTGCTTTTAACAATGAAGATTGAACAGAGTTCAGCAA
TTTTGATTAAATTAAGACTTGGGGGTGAAACTTTCCAGTTTACTGAACTCCAGACCATGCATGT
AGTCCACTCCAGAAATCATGCTCGCTTCCCTTGGCACACCAGTGTTCTCCTGCCAAATGACCCT
AGACCCTCTGTCCTGCAGAGTCAGGGTGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAGTCC
TGGCCTCCGCAGATGCTTCATTTTGACCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTGCCC
TGGCTGTGTCCCTGGACGGGTGGACTTAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAGGCC
CTCACAGATGTCTAGGCAGGCCTCATTTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAAAGC
CAAATCTCAGGGAAGTCCTTGGTTGATGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCCTGT
CACCCAGTAGAGTAAATAAACTTCCTTGGCTCCTG

hide sequence

RefSeq Acc Id:

XM_011537136 ⟹ XP_011535438

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,375,347 (-)	NCBI

Sequence:

show sequence

ATAAGAAACCCTTAGCTGAATGCAGGGTGGGGAGAACGAAAGACAAAAGCATCTTTTTTCAGAA
GGGAAACTGAAAGAAAGAGGGGAAGAGTATTAAAGACCATTTCTGGCTGGGCAGGGCACTCTCA
GCAGCTCAACTGCCCAGCGTGACCAGTGGCCACCTCTGCAGTGTCTTCCACAACCTGGGTGAAT
CTACTTCTCTTAACAAAGTCTCAATGTCCTATTTGCAATTTATGTGGTAAACACTGAAGACAAT
GGTCCTTAACCTTTTGGCATCTCAGCCTCCTTTCGAAAGGATGAAATTGATTCTGCAGTAAAGA
TGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGAGGATTACAAGGCTGACTGTCC
TCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAGATGCCACAGAAGCTGAAGAGGATTTT
GTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAGACTACGATAAGCTCATTGTTC
GGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAATAGAGAGAGCCACCGGCCAAAG
ACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACACAGAGATATGAATCAGGTTCTTGAT
GCCTATGAAAATAAGAAGCCATTTTATCTGTACACGGGCCGGGGCCCCTCTTCTGAAGCAATGC
ATGTAGGTCACCTCATTCCATTTATTTTCACAAAGTGGCTCCAGGATGTATTTAACGTGCCCTT
GGTCATCCAGATGACGGATGACGAGAAGTATCTGTGGAAGGACCTGACCCTGGACCAGGCCTAT
AGCTATGCTGTGGAGAATGCCAAGGACATCATCGCCTGTGGCTTTGACATCAACAAGACTTTCA
TATTCTCTGACCTGGACTACATGGGGATGAGCTCAGGTTTCTACAAAAATGTGGTGAAGATTCA
AAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTTCGGCTTCACTGACAGCGACTGCATTGGG
AAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTCCTTCAGCAACTCATTCCCACAGATCTTCC
GAGACAGGACGGATATCCAGTGCCTTATCCCATGTGCCATTGACCAGGATCCTTACTTTAGAAT
GACAAGGGACGTCGCCCCCAGGATCGGCTATCCTAAACCAGCCCTGCTGCACTCCACCTTCTTC
CCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAGCGACCCCAACTCCTCCATCTTCCTCA
CCGACACGGCCAAGCAGATCAAAACCAAGGTCAATAAGCATGCGTTTTCTGGAGGGAGAGACAC
CATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATGTGGACGTGTCTTTCATGTACCTGACC
TTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAGGAAGGATTACACCAGCGGAGCCATGC
TCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTGCAGCCCTTGATCGCAGAGCACCAGGC
CCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGTTCATGACTCCCCGGAAGCTGTCCTTC
GACTTTCAGTAGCACTCGTTTTACATATGCTTATAAAAGAAGTGATGTATCAGTAATGTATCAA
TAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAGGCTTCTGTCTCATGGTAATTACTGGGCCT
GGCCTCTGTAAGCCTGTGTATGTTATCAATACTGTTTCTTCCTGTGAGTTCCATTATTTCTATC
TCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTGGCTAACATTGCATGGTCGGATAGAGAAGT
CCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAGTGGAGCCTTTGGCTGGAAGTCCATGGGCC
ACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTCCAAGTATACTCTTAAGACCCACTCTGTTT
AAAAATATATATTCTATGTATGCGTATATGGAATTGAAATGTCATTATTGTAACCTAGAAAGTG
CTTTGAAATATTGATGTGGGGAGGTTTATTGAGCACAAGATGTATTTCAGCCCATGCCCCCTCC
CAAAAAGAAATTGATAAGTAAAAGCTTCGTTATACATTTGACTAAGAAATCACCCAGCTTTAAA
GCTGCTTTTAACAATGAAGATTGAACAGAGTTCAGCAATTTTGATTAAATTAAGACTTGGGGGT
GAAACTTTCCAGTTTACTGAACTCCAGACCATGCATGTAGTCCACTCCAGAAATCATGCTCGCT
TCCCTTGGCACACCAGTGTTCTCCTGCCAAATGACCCTAGACCCTCTGTCCTGCAGAGTCAGGG
TGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAGTCCTGGCCTCCGCAGATGCTTCATTTTGA
CCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTGCCCTGGCTGTGTCCCTGGACGGGTGGACT
TAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAGGCCCTCACAGATGTCTAGGCAGGCCTCAT
TTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAAAGCCAAATCTCAGGGAAGTCCTTGGTTGA
TGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCCTGTCACCCAGTAGAGTAAATAAACTTCCT
TGGCTCCTGC

hide sequence

RefSeq Acc Id:

XM_017021627 ⟹ XP_016877116

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

Sequence:

show sequence

GACTGGCCCGGCTGGGCAGGAAGGGAAACTGAAAGAAAGAGGGGAAGAGTATTAAAGACCATTT
CTGGCTGGGCAGGGCACTCTCAGCAGCTCAACTGCCCAGCGTGACCAGTGGCCACCTCTGCAGT
GTCTTCCACAACCTGGTCTTGACTCGTCTGCTGAACAAATCCTCTGACCTCAGGCCGGCTGTGA
ACGTAGTTCCTGAGAGATAGCAAACATGCCCAACAGTGAGCCCGCATCTCTGCTGGAGCTGTTC
AACAGCATCGCCACACAAGGGGAGCTCGTAAGGTCCCTCAAAGCGGGAAATGCGTCAAAGGATG
AAATTGATTCTGCAGTAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGA
GGATTACAAGGCTGACTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAGATGCC
ACAGAAGCTGAAGAGGATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAG
ACTACGATAAGCTCATTGTTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAAT
AGAGAGAGCCACCGGCCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACACAGA
GATATGAATCAGGTTCTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACACGGGCCGGG
GCCCCTCTTCTGAAGCAATGCATGTAGGTCACCTCATTCCATTTATTTTCACAAAGTGGCTCCA
GGATGTATTTAACGTGCCCTTGGTCATCCAGATGACGGATGACGAGAAGTATCTGTGGAAGGAC
CTGACCCTGGACCAGGCCTATAGCTATGCTGTGGAGAATGCCAAGGACATCATCGCCTGTGGCT
TTGACATCAACAAGACTTTCATATTCTCTGACCTGGACTACATGGGGATGAGCTCAGGTTTCTA
CAAAAATGTGGTGAAGATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTTCGGCTTC
ACTGACAGCGACTGCATTGGGAAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTCCTTCAGCA
ACTCATTCCCACAGATCTTCCGAGACAGGACGGATATCCAGTGCCTTATCCCATGTGCCATTGA
CCAGGATCCTTACTTTAGAATGACAAGGGACGTCGCCCCCAGGATCGGCTATCCTAAACCAGCC
CTGCTGCACTCCACCTTCTTCCCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAGCGACC
CCAACTCCTCCATCTTCCTCACCGACACGGCCAAGCAGATCAAAACCAAGGTCAATAAGCATGC
GTTTTCTGGAGGGAGAGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATGTGGAC
GTGTCTTTCATGTACCTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAGGAAGG
ATTACACCAGCGGAGCCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTGCAGCC
CTTGATCGCAGAGCACCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGTTCATG
ACTCCCCGGAAGCTGTCCTTCGACTTTCAGTAGCACTCGTTTTACATATGCTTATAAAAGAAGT
GATGTATCAGTAATGTATCAATAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAGGCTTCTGT
CTCATGGTAATTACTGGGCCTGGCCTCTGTAAGCCTGTGTATGTTATCAATACTGTTTCTTCCT
GTGAGTTCCATTATTTCTATCTCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTGGCTAACAT
TGCATGGTCGGATAGAGAAGTCCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAGTGGAGCCT
TTGGCTGGAAGTCCATGGGCCACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTCCAAGTATA
CTCTTAAGACCCACTCTGTTTAAAAATATATATTCTATGTATGCGTATATGGAATTGAAATGTC
ATTATTGTAACCTAGAAAGTGCTTTGAAATATTGATGTGGGGAGGTTTATTGAGCACAAGATGT
ATTTCAGCCCATGCCCCCTCCCAAAAAGAAATTGATAAGTAAAAGCTTCGTTATACATTTGACT
AAGAAATCACCCAGCTTTAAAGCTGCTTTTAACAATGAAGATTGAACAGAGTTCAGCAATTTTG
ATTAAATTAAGACTTGGGGGTGAAACTTTCCAGTTTACTGAACTCCAGACCATGCATGTAGTCC
ACTCCAGAAATCATGCTCGCTTCCCTTGGCACACCAGTGTTCTCCTGCCAAATGACCCTAGACC
CTCTGTCCTGCAGAGTCAGGGTGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAGTCCTGGCC
TCCGCAGATGCTTCATTTTGACCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTGCCCTGGCT
GTGTCCCTGGACGGGTGGACTTAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAGGCCCTCAC
AGATGTCTAGGCAGGCCTCATTTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAAAGCCAAAT
CTCAGGGAAGTCCTTGGTTGATGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCCTGTCACCC
AGTAGAGTAAATAAACTTCCTTGGCTCCTGC

hide sequence

RefSeq Acc Id:

XM_024449707 ⟹ XP_024305475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

Sequence:

show sequence

GCCGGTTGCTGAGCCGGGAGCGCTGACTGGCCCGGCTGGGCAGGATGTTCCTGAACTCCAAGTT
GAAAAACCTCTGAAGTTCAACTCAATTCTGAAAGTCAACAAAGAAATAAAGGAGGATGTCAATA
GTCTTGACTCGTCTGCTGAACAAATCCTCTGACCTCAGGCCGGCTGTGAACGTAGTTCCTGAGA
GATAGCAAACATGCCCAACAGTGAGCCCGCATCTCTGCTGGAGCTGTTCAACAGCATCGCCACA
CAAGGGGAGCTCGTAAGGTCCCTCAAAGCGGGAAATGCGTCAAAGGATGAAATTGATTCTGCAG
TAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGAGGATTACAAGGCTGA
CTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAGATGCCACAGAAGCTGAAGAG
GATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAGACTACGATAAGCTCA
TTGTTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAATAGAGAGAGCCACCGG
CCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACACAGAGATATGAATCAGGTT
CTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACACGGGCCGGGGCCCCTCTTCTGAAG
CAATGCATGTAGGTCACCTCATTCCATTTATTTTCACAAAGTGGCTCCAGGATGTATTTAACGT
GCCCTTGGTCATCCAGATGACGGATGACGAGAAGTATCTGTGGAAGGACCTGACCCTGGACCAG
GCCTATAGCTATGCTGTGGAGAATGCCAAGGACATCATCGCCTGTGGCTTTGACATCAACAAGA
CTTTCATATTCTCTGACCTGGACTACATGGGGATGAGCTCAGGTTTCTACAAAAATGTGGTGAA
GATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTTCGGCTTCACTGACAGCGACTGC
ATTGGGAAGATCAGTTTTCCTGCCATCCAGGCTGCTCCCTCCTTCAGCAACTCATTCCCACAGA
TCTTCCGAGACAGGACGGATATCCAGTGCCTTATCCCATGTGCCATTGACCAGGATCCTTACTT
TAGAATGACAAGGGACGTCGCCCCCAGGATCGGCTATCCTAAACCAGCCCTGCTGCACTCCACC
TTCTTCCCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAGCGACCCCAACTCCTCCATCT
TCCTCACCGACACGGCCAAGCAGATCAAAACCAAGGTCAATAAGCATGCGTTTTCTGGAGGGAG
AGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATGTGGACGTGTCTTTCATGTAC
CTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAGGAAGGATTACACCAGCGGAG
CCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTGCAGCCCTTGATCGCAGAGCA
CCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGTTCATGACTCCCCGGAAGCTG
TCCTTCGACTTTCAGTAGCACTCGTTTTACATATGCTTATAAAAGAAGTGATGTATCAGTAATG
TATCAATAATCCCAGCCCAGTCAAAGCACCGCCACCTGTAGGCTTCTGTCTCATGGTAATTACT
GGGCCTGGCCTCTGTAAGCCTGTGTATGTTATCAATACTGTTTCTTCCTGTGAGTTCCATTATT
TCTATCTCTTATGGGCAAAGCATTGTGGGTAATTGGTGCTGGCTAACATTGCATGGTCGGATAG
AGAAGTCCAGCTGTGAGTCTCTCCCCAAAGCAGCCCCACAGTGGAGCCTTTGGCTGGAAGTCCA
TGGGCCACCCTGTTCTTGTCCATGGAGGACTCCGAGGGTTCCAAGTATACTCTTAAGACCCACT
CTGTTTAAAAATATATATTCTATGTATGCGTATATGGAATTGAAATGTCATTATTGTAACCTAG
AAAGTGCTTTGAAATATTGATGTGGGGAGGTTTATTGAGCACAAGATGTATTTCAGCCCATGCC
CCCTCCCAAAAAGAAATTGATAAGTAAAAGCTTCGTTATACATTTGACTAAGAAATCACCCAGC
TTTAAAGCTGCTTTTAACAATGAAGATTGAACAGAGTTCAGCAATTTTGATTAAATTAAGACTT
GGGGGTGAAACTTTCCAGTTTACTGAACTCCAGACCATGCATGTAGTCCACTCCAGAAATCATG
CTCGCTTCCCTTGGCACACCAGTGTTCTCCTGCCAAATGACCCTAGACCCTCTGTCCTGCAGAG
TCAGGGTGGCTTTTCCCCTGACTGTGTCCGATGCCAAGGAGTCCTGGCCTCCGCAGATGCTTCA
TTTTGACCCTTGGCTGCAGTGGAAGTCAGCACAGAGCAGTGCCCTGGCTGTGTCCCTGGACGGG
TGGACTTAGCTAGGGAGAAAGTCGAGGCAGCAGCCCTCGAGGCCCTCACAGATGTCTAGGCAGG
CCTCATTTCATCACGCAGCATGTGCAGGCCTGGAAGAGCAAAGCCAAATCTCAGGGAAGTCCTT
GGTTGATGTATCTGGGTCTCCTCTGGAGCACTCTGCCCTCCTGTCACCCAGTAGAGTAAATAAA
CTTCCTTGGCTCCTGC

hide sequence

RefSeq Acc Id:

XM_047431757 ⟹ XP_047287713

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_047431758 ⟹ XP_047287714

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_047431759 ⟹ XP_047287715

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_047431760 ⟹ XP_047287716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,375,347 (-)	NCBI

RefSeq Acc Id:

XM_047431761 ⟹ XP_047287717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,375,347 (-)	NCBI

RefSeq Acc Id:

XM_047431762 ⟹ XP_047287718

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_047431763 ⟹ XP_047287719

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_047431764 ⟹ XP_047287720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_047431765 ⟹ XP_047287721

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,333,790 - 100,376,327 (-)	NCBI

RefSeq Acc Id:

XM_054376696 ⟹ XP_054232671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376697 ⟹ XP_054232672

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376698 ⟹ XP_054232673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376699 ⟹ XP_054232674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376700 ⟹ XP_054232675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376701 ⟹ XP_054232676

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,608,445 (-)	NCBI

RefSeq Acc Id:

XM_054376702 ⟹ XP_054232677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,608,445 (-)	NCBI

RefSeq Acc Id:

XM_054376703 ⟹ XP_054232678

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376704 ⟹ XP_054232679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,609,425 (-)	NCBI

RefSeq Acc Id:

XM_054376705 ⟹ XP_054232680

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	94,566,811 - 94,608,445 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_004175	(Get FASTA)	NCBI Sequence Viewer
	NP_776049	(Get FASTA)	NCBI Sequence Viewer
	NP_998810	(Get FASTA)	NCBI Sequence Viewer
	NP_998811	(Get FASTA)	NCBI Sequence Viewer
	XP_011535438	(Get FASTA)	NCBI Sequence Viewer
	XP_016877116	(Get FASTA)	NCBI Sequence Viewer
	XP_024305475	(Get FASTA)	NCBI Sequence Viewer
	XP_047287713	(Get FASTA)	NCBI Sequence Viewer
	XP_047287714	(Get FASTA)	NCBI Sequence Viewer
	XP_047287715	(Get FASTA)	NCBI Sequence Viewer
	XP_047287716	(Get FASTA)	NCBI Sequence Viewer
	XP_047287717	(Get FASTA)	NCBI Sequence Viewer
	XP_047287718	(Get FASTA)	NCBI Sequence Viewer
	XP_047287719	(Get FASTA)	NCBI Sequence Viewer
	XP_047287720	(Get FASTA)	NCBI Sequence Viewer
	XP_047287721	(Get FASTA)	NCBI Sequence Viewer
	XP_054232671	(Get FASTA)	NCBI Sequence Viewer
	XP_054232672	(Get FASTA)	NCBI Sequence Viewer
	XP_054232673	(Get FASTA)	NCBI Sequence Viewer
	XP_054232674	(Get FASTA)	NCBI Sequence Viewer
	XP_054232675	(Get FASTA)	NCBI Sequence Viewer
	XP_054232676	(Get FASTA)	NCBI Sequence Viewer
	XP_054232677	(Get FASTA)	NCBI Sequence Viewer
	XP_054232678	(Get FASTA)	NCBI Sequence Viewer
	XP_054232679	(Get FASTA)	NCBI Sequence Viewer
	XP_054232680	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA61298	(Get FASTA)	NCBI Sequence Viewer
	AAA67324	(Get FASTA)	NCBI Sequence Viewer
	AAB39380	(Get FASTA)	NCBI Sequence Viewer
	AAB39381	(Get FASTA)	NCBI Sequence Viewer
	AAH17489	(Get FASTA)	NCBI Sequence Viewer
	AAH95453	(Get FASTA)	NCBI Sequence Viewer
	ADO22387	(Get FASTA)	NCBI Sequence Viewer
	BAF83830	(Get FASTA)	NCBI Sequence Viewer
	BAG51626	(Get FASTA)	NCBI Sequence Viewer
	BAG62020	(Get FASTA)	NCBI Sequence Viewer
	CAA42545	(Get FASTA)	NCBI Sequence Viewer
	CAA44450	(Get FASTA)	NCBI Sequence Viewer
	CAB94198	(Get FASTA)	NCBI Sequence Viewer
	CAB94199	(Get FASTA)	NCBI Sequence Viewer
	CAD62335	(Get FASTA)	NCBI Sequence Viewer
	EAW81700	(Get FASTA)	NCBI Sequence Viewer
	EAW81701	(Get FASTA)	NCBI Sequence Viewer
	EAW81702	(Get FASTA)	NCBI Sequence Viewer
	EAW81703	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000339485
	ENSP00000339485.5
	ENSP00000347495
	ENSP00000347495.2
	ENSP00000351481
	ENSP00000351481.4
	ENSP00000376620
	ENSP00000376620.2
	ENSP00000450427.1
	ENSP00000450500.1
	ENSP00000450563.1
	ENSP00000450623.1
	ENSP00000450934.1
	ENSP00000450978.1
	ENSP00000451027.1
	ENSP00000451251.1
	ENSP00000451349.1
	ENSP00000451377.1
	ENSP00000451402.1
	ENSP00000451460
	ENSP00000451460.1
	ENSP00000451469.1
	ENSP00000451490.1
	ENSP00000451544.1
	ENSP00000451599.1
	ENSP00000451679.1
	ENSP00000451716.1
	ENSP00000451777.1
	ENSP00000451887.1
	ENSP00000451891.1
	ENSP00000451894.1
	ENSP00000451906.2
	ENSP00000451922.1
	ENSP00000451953.1
	ENSP00000452358.1
	ENSP00000452379.1
	ENSP00000452519.1
	ENSP00000452550.1
	ENSP00000487316.1
GenBank Protein	P23381	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_998810 ⟸ NM_213645
- Peptide Label:	isoform b
- UniProtKB:	P23381 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLVSLKMSYKAAAGEDYKADCPPGNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIV RFGSSKIDKELINRIERATGQRPHHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAM HVGHLIPFIFTKWLQDVFNVPLVIQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTF IFSDLDYMGMSSGFYKNVVKIQKHVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIF RDRTDIQCLIPCAIDQDPYFRMTRDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFL TDTAKQIKTKVNKHAFSGGRDTIEEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAM LTGELKKALIEVLQPLIAEHQARRKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:	NP_776049 ⟸ NM_173701
- Peptide Label:	isoform a
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPNSEPASLLELFNSIATQGELVRSLKAGNASKDEIDSAVKMLVSLKMSYKAAAGEDYKADCPP GNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIVRFGSSKIDKELINRIERATGQRP HHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAMHVGHLIPFIFTKWLQDVFNVPLV IQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTFIFSDLDYMGMSSGFYKNVVKIQK HVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIFRDRTDIQCLIPCAIDQDPYFRMT RDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFLTDTAKQIKTKVNKHAFSGGRDTI EEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAMLTGELKKALIEVLQPLIAEHQAR RKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:	NP_998811 ⟸ NM_213646
- Peptide Label:	isoform b
- UniProtKB:	P23381 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLVSLKMSYKAAAGEDYKADCPPGNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIV RFGSSKIDKELINRIERATGQRPHHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAM HVGHLIPFIFTKWLQDVFNVPLVIQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTF IFSDLDYMGMSSGFYKNVVKIQKHVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIF RDRTDIQCLIPCAIDQDPYFRMTRDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFL TDTAKQIKTKVNKHAFSGGRDTIEEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAM LTGELKKALIEVLQPLIAEHQARRKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:	NP_004175 ⟸ NM_004184
- Peptide Label:	isoform a
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPNSEPASLLELFNSIATQGELVRSLKAGNASKDEIDSAVKMLVSLKMSYKAAAGEDYKADCPP GNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIVRFGSSKIDKELINRIERATGQRP HHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAMHVGHLIPFIFTKWLQDVFNVPLV IQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTFIFSDLDYMGMSSGFYKNVVKIQK HVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIFRDRTDIQCLIPCAIDQDPYFRMT RDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFLTDTAKQIKTKVNKHAFSGGRDTI EEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAMLTGELKKALIEVLQPLIAEHQAR RKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:	XP_011535438 ⟸ XM_011537136
- Peptide Label:	isoform X3
- UniProtKB:	P23381 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLVSLKMSYKAAAGEDYKADCPPGNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIV RFGSSKIDKELINRIERATGQRPHHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAM HVGHLIPFIFTKWLQDVFNVPLVIQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTF IFSDLDYMGMSSGFYKNVVKIQKHVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIF RDRTDIQCLIPCAIDQDPYFRMTRDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFL TDTAKQIKTKVNKHAFSGGRDTIEEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAM LTGELKKALIEVLQPLIAEHQARRKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:	XP_016877116 ⟸ XM_017021627
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPNSEPASLLELFNSIATQGELVRSLKAGNASKDEIDSAVKMLVSLKMSYKAAAGEDYKADCPP GNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIVRFGSSKIDKELINRIERATGQRP HHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAMHVGHLIPFIFTKWLQDVFNVPLV IQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTFIFSDLDYMGMSSGFYKNVVKIQK HVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIFRDRTDIQCLIPCAIDQDPYFRMT RDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFLTDTAKQIKTKVNKHAFSGGRDTI EEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAMLTGELKKALIEVLQPLIAEHQAR RKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:	XP_024305475 ⟸ XM_024449707
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPNSEPASLLELFNSIATQGELVRSLKAGNASKDEIDSAVKMLVSLKMSYKAAAGEDYKADCPP GNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIVRFGSSKIDKELINRIERATGQRP HHFLRRGIFFSHRDMNQVLDAYENKKPFYLYTGRGPSSEAMHVGHLIPFIFTKWLQDVFNVPLV IQMTDDEKYLWKDLTLDQAYSYAVENAKDIIACGFDINKTFIFSDLDYMGMSSGFYKNVVKIQK HVTFNQVKGIFGFTDSDCIGKISFPAIQAAPSFSNSFPQIFRDRTDIQCLIPCAIDQDPYFRMT RDVAPRIGYPKPALLHSTFFPALQGAQTKMSASDPNSSIFLTDTAKQIKTKVNKHAFSGGRDTI EEHRQFGGNCDVDVSFMYLTFFLEDDDKLEQIRKDYTSGAMLTGELKKALIEVLQPLIAEHQAR RKEVTDEIVKEFMTPRKLSFDFQ hide sequence

RefSeq Acc Id:

ENSP00000451953 ⟸ ENST00000555813

RefSeq Acc Id:

ENSP00000450623 ⟸ ENST00000555031

RefSeq Acc Id:

ENSP00000450934 ⟸ ENST00000555410

RefSeq Acc Id:

ENSP00000452519 ⟸ ENST00000556435

RefSeq Acc Id:

ENSP00000451544 ⟸ ENST00000556338

RefSeq Acc Id:

ENSP00000451027 ⟸ ENST00000556209

RefSeq Acc Id:

ENSP00000451377 ⟸ ENST00000556295

RefSeq Acc Id:

ENSP00000451679 ⟸ ENST00000556783

RefSeq Acc Id:

ENSP00000451777 ⟸ ENST00000556695

RefSeq Acc Id:

ENSP00000450427 ⟸ ENST00000556698

RefSeq Acc Id:

ENSP00000451402 ⟸ ENST00000556660

RefSeq Acc Id:

ENSP00000451887 ⟸ ENST00000556645

RefSeq Acc Id:

ENSP00000451251 ⟸ ENST00000556504

RefSeq Acc Id:

ENSP00000451922 ⟸ ENST00000557347

RefSeq Acc Id:

ENSP00000451599 ⟸ ENST00000557297

RefSeq Acc Id:

ENSP00000451460 ⟸ ENST00000557135

RefSeq Acc Id:

ENSP00000450500 ⟸ ENST00000557722

RefSeq Acc Id:

ENSP00000487316 ⟸ ENST00000627608

RefSeq Acc Id:

ENSP00000376620 ⟸ ENST00000392882

RefSeq Acc Id:

ENSP00000347495 ⟸ ENST00000355338

RefSeq Acc Id:

ENSP00000451490 ⟸ ENST00000553395

RefSeq Acc Id:

ENSP00000451906 ⟸ ENST00000553769

RefSeq Acc Id:

ENSP00000452358 ⟸ ENST00000553581

RefSeq Acc Id:

ENSP00000451716 ⟸ ENST00000553545

RefSeq Acc Id:

ENSP00000452550 ⟸ ENST00000553413

RefSeq Acc Id:

ENSP00000451349 ⟸ ENST00000553524

RefSeq Acc Id:

ENSP00000452379 ⟸ ENST00000553934

RefSeq Acc Id:

ENSP00000451894 ⟸ ENST00000554509

RefSeq Acc Id:

ENSP00000450978 ⟸ ENST00000554605

RefSeq Acc Id:

ENSP00000451891 ⟸ ENST00000554601

RefSeq Acc Id:

ENSP00000451469 ⟸ ENST00000554772

RefSeq Acc Id:

ENSP00000450563 ⟸ ENST00000554820

RefSeq Acc Id:

ENSP00000351481 ⟸ ENST00000358655

RefSeq Acc Id:

ENSP00000339485 ⟸ ENST00000344102

RefSeq Acc Id:	XP_047287718 ⟸ XM_047431762
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287719 ⟸ XM_047431763
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287715 ⟸ XM_047431759
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287714 ⟸ XM_047431758
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287713 ⟸ XM_047431757
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287721 ⟸ XM_047431765
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047287720 ⟸ XM_047431764
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287716 ⟸ XM_047431760
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047287717 ⟸ XM_047431761
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232675 ⟸ XM_054376700
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232678 ⟸ XM_054376703
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232679 ⟸ XM_054376704
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232671 ⟸ XM_054376696
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232674 ⟸ XM_054376699
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232673 ⟸ XM_054376698
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232672 ⟸ XM_054376697
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232680 ⟸ XM_054376705
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054232676 ⟸ XM_054376701
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232677 ⟸ XM_054376702
- Peptide Label:	isoform X1
- UniProtKB:	Q9UDI5 (UniProtKB/Swiss-Prot), Q53XB6 (UniProtKB/Swiss-Prot), Q502Y0 (UniProtKB/Swiss-Prot), P78535 (UniProtKB/Swiss-Prot), P23381 (UniProtKB/Swiss-Prot), A6NID3 (UniProtKB/Swiss-Prot), A6NGN1 (UniProtKB/Swiss-Prot), Q9UDL3 (UniProtKB/Swiss-Prot), A0A024R6K8 (UniProtKB/TrEMBL)

Protein Domains

WHEP-TRS

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P23381-F1-model_v2	AlphaFold	P23381	1-471	view protein structure

Promoters

RGD ID:

6792033

Promoter ID:

HG_KWN:20172

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

UC001YHE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	99,889,846 - 99,890,957 (-)	MPROMDB

RGD ID:

6792034

Promoter ID:

HG_KWN:20173

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid

Transcripts:

UC001YHF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	99,905,191 - 99,906,327 (-)	MPROMDB

RGD ID:

6792036

Promoter ID:

HG_KWN:20174

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:

ENST00000335290, NM_004184, NM_173701, NM_213645, NM_213646, UC001YHG.1, UC001YHJ.1, UC001YHM.1, UC010AVX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	99,910,466 - 99,912,537 (-)	MPROMDB

RGD ID:

7228635

Promoter ID:

EPDNEW_H20063

Type:

initiation region

Name:

WARS_1

Description:

tryptophanyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20064 EPDNEW_H20065

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,375,347 - 100,375,407	EPDNEW

RGD ID:

7228637

Promoter ID:

EPDNEW_H20064

Type:

initiation region

Name:

WARS_2

Description:

tryptophanyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20063 EPDNEW_H20065

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,375,475 - 100,375,535	EPDNEW

RGD ID:

7228639

Promoter ID:

EPDNEW_H20065

Type:

initiation region

Name:

WARS_3

Description:

tryptophanyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20063 EPDNEW_H20064

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	100,375,616 - 100,375,676	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12729	AgrOrtholog
COSMIC	WARS1	COSMIC
Ensembl Genes	ENSG00000140105	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000344102	ENTREZGENE
	ENST00000344102.9	UniProtKB/Swiss-Prot
	ENST00000355338	ENTREZGENE
	ENST00000355338.6	UniProtKB/Swiss-Prot
	ENST00000358655	ENTREZGENE
	ENST00000358655.8	UniProtKB/Swiss-Prot
	ENST00000392882	ENTREZGENE
	ENST00000392882.7	UniProtKB/Swiss-Prot
	ENST00000553395.5	UniProtKB/TrEMBL
	ENST00000553413.5	UniProtKB/TrEMBL
	ENST00000553524.5	UniProtKB/TrEMBL
	ENST00000553545.5	UniProtKB/TrEMBL
	ENST00000553581.1	UniProtKB/TrEMBL
	ENST00000553769.6	UniProtKB/TrEMBL
	ENST00000553934.1	UniProtKB/TrEMBL
	ENST00000554509.5	UniProtKB/TrEMBL
	ENST00000554601.1	UniProtKB/TrEMBL
	ENST00000554605.5	UniProtKB/TrEMBL
	ENST00000554772.5	UniProtKB/TrEMBL
	ENST00000554820.5	UniProtKB/TrEMBL
	ENST00000555031.5	UniProtKB/TrEMBL
	ENST00000555410.5	UniProtKB/TrEMBL
	ENST00000555813.5	UniProtKB/TrEMBL
	ENST00000556209.5	UniProtKB/TrEMBL
	ENST00000556295.5	UniProtKB/TrEMBL
	ENST00000556338.5	UniProtKB/TrEMBL
	ENST00000556435.5	UniProtKB/TrEMBL
	ENST00000556504.5	UniProtKB/TrEMBL
	ENST00000556645.5	UniProtKB/Swiss-Prot
	ENST00000556660.5	UniProtKB/TrEMBL
	ENST00000556695.5	UniProtKB/TrEMBL
	ENST00000556698.5	UniProtKB/TrEMBL
	ENST00000556783.5	UniProtKB/TrEMBL
	ENST00000557135	ENTREZGENE
	ENST00000557135.5	UniProtKB/Swiss-Prot
	ENST00000557297.5	UniProtKB/TrEMBL
	ENST00000557347.5	UniProtKB/TrEMBL
	ENST00000557722.5	UniProtKB/TrEMBL
	ENST00000627608.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.620	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	S15/NS1, RNA-binding	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyrosyl-Transfer RNA Synthetase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000140105	GTEx
HGNC ID	HGNC:12729	ENTREZGENE
Human Proteome Map	WARS1	Human Proteome Map
InterPro	aa-tRNA-synth_I_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	aa-tRNA-synth_Ic	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rossmann-like_a/b/a_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	S15_NS1_RNA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Trp-tRNA-ligase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP-TRS_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7453	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	7453	ENTREZGENE
OMIM	191050	OMIM
PANTHER	HIGH MOBILITY GROUP AT-HOOK 2	UniProtKB/TrEMBL
	PROTEIN GVQW1-RELATED	UniProtKB/TrEMBL
	TRYPTOPHAN--TRNA LIGASE, CYTOPLASMIC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRYPTOPHANYL-TRNA SYNTHETASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	tRNA-synt_1b	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP-TRS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA37340	PharmGKB
PRINTS	TRNASYNTHTRP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	AA_TRNA_LIGASE_I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP_TRS_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP_TRS_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	WHEP-TRS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Nucleotidylyl transferase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47060	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024R6K8	ENTREZGENE, UniProtKB/TrEMBL
	A6NGN1	ENTREZGENE
	A6NID3	ENTREZGENE
	G3V227_HUMAN	UniProtKB/TrEMBL
	G3V277_HUMAN	UniProtKB/TrEMBL
	G3V2C0_HUMAN	UniProtKB/TrEMBL
	G3V2F2_HUMAN	UniProtKB/TrEMBL
	G3V2Y7_HUMAN	UniProtKB/TrEMBL
	G3V313_HUMAN	UniProtKB/TrEMBL
	G3V339_HUMAN	UniProtKB/TrEMBL
	G3V3H8_HUMAN	UniProtKB/TrEMBL
	G3V3P2_HUMAN	UniProtKB/TrEMBL
	G3V3R3_HUMAN	UniProtKB/TrEMBL
	G3V3S7_HUMAN	UniProtKB/TrEMBL
	G3V3X0_HUMAN	UniProtKB/TrEMBL
	G3V3Y5_HUMAN	UniProtKB/TrEMBL
	G3V423_HUMAN	UniProtKB/TrEMBL
	G3V456_HUMAN	UniProtKB/TrEMBL
	G3V4A3_HUMAN	UniProtKB/TrEMBL
	G3V4C7_HUMAN	UniProtKB/TrEMBL
	G3V4N0_HUMAN	UniProtKB/TrEMBL
	G3V4N8_HUMAN	UniProtKB/TrEMBL
	G3V4Q0_HUMAN	UniProtKB/TrEMBL
	G3V4S4_HUMAN	UniProtKB/TrEMBL
	G3V5H5_HUMAN	UniProtKB/TrEMBL
	G3V5U1_HUMAN	UniProtKB/TrEMBL
	G3V5W1_HUMAN	UniProtKB/TrEMBL
	H0YJP3_HUMAN	UniProtKB/TrEMBL
	P23381	ENTREZGENE
	P78534_HUMAN	UniProtKB/TrEMBL
	P78535	ENTREZGENE
	Q502Y0	ENTREZGENE
	Q53XB6	ENTREZGENE
	Q9UDI5	ENTREZGENE
	Q9UDL3	ENTREZGENE
	SYWC_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A6NGN1	UniProtKB/Swiss-Prot
	A6NID3	UniProtKB/Swiss-Prot
	P78535	UniProtKB/Swiss-Prot
	Q502Y0	UniProtKB/Swiss-Prot
	Q53XB6	UniProtKB/Swiss-Prot
	Q9UDI5	UniProtKB/Swiss-Prot
	Q9UDL3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-07-23	WARS1	tryptophanyl-tRNA synthetase 1	WARS	tryptophanyl-tRNA synthetase	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

External Pathway Database Links

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

External Pathway Database Links

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

External Pathway Database Links

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

External Pathway Database Links