TRMT10A (tRNA methyltransferase 10A)

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Gene: TRMT10A (tRNA methyltransferase 10A) Homo sapiens

Analyze

Symbol:

TRMT10A

Name:

tRNA methyltransferase 10A

RGD ID:

1319496

HGNC Page

HGNC

Description:

Enables tRNA (guanine(9)-N(1))-methyltransferase activity and tRNA binding activity. Involved in tRNA N1-guanine methylation. Located in actin cytoskeleton; cytosol; and nuclear lumen.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

epididymis secretory protein Li 88; FLJ20325; HEL-S-88; MGC27034; MSSGM; MSSGM1; RG9MTD2; RNA (guanine-9-) methyltransferase domain containing 2; RNA (guanine-9-)-methyltransferase domain-containing protein 2; TRM10; tRNA (guanine(9)-N(1))-methyltransferase TRMT10A; tRNA methyltransferase 10 homolog A

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

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):	Trmt10a (tRNA methyltransferase 10A)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Trmt10a (tRNA methyltransferase 10A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Trmt10a (tRNA methyltransferase 10A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TRMT10A (tRNA methyltransferase 10A)	NCBI	Ortholog
Canis lupus familiaris (dog):	TRMT10A (tRNA methyltransferase 10A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Trmt10a (tRNA methyltransferase 10A)	NCBI	Ortholog
Sus scrofa (pig):	TRMT10A (tRNA methyltransferase 10A)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TRMT10A (tRNA methyltransferase 10A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Trmt10a (tRNA methyltransferase 10A)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Trmt10a (tRNA methyltransferase 10A)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Trmt10a (tRNA methyltransferase 10A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	trmt10a (tRNA methyltransferase 10A)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG14618	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	F25H8.1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	TRM10	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	4	99,546,711 - 99,564,039 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	4	99,546,709 - 99,564,039 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	100,467,868 - 100,485,196 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	100,686,904 - 100,703,848 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	4	100,825,061 - 100,842,003	NCBI
Celera	4	97,765,280 - 97,782,608 (-)	NCBI
Cytogenetic Map	4	q23	NCBI
HuRef	4	96,205,953 - 96,223,232 (-)	NCBI		HuRef
CHM1_1	4	100,444,338 - 100,461,662 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	102,861,479 - 102,878,808 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 (IAGP)

Nervous System Malformations (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-epigallocatechin 3-gallate (EXP)

17alpha-ethynylestradiol (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3,4-methylenedioxymethamphetamine (ISO)

acrylamide (EXP)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (ISO)

butanal (EXP)

C60 fullerene (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chromium(6+) (ISO)

cisplatin (EXP)

coumestrol (EXP)

dicrotophos (EXP)

doxorubicin (EXP)

fenthion (ISO)

fenvalerate (ISO)

fipronil (ISO)

furan (ISO)

gallic acid (EXP)

gentamycin (ISO)

hydrogen peroxide (EXP)

nitrogen dioxide (EXP)

paracetamol (ISO)

PCB138 (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

propanal (EXP)

resveratrol (EXP)

silver atom (ISO)

silver(0) (ISO)

sunitinib (EXP)

tetrachloromethane (ISO)

theophylline (EXP)

thimerosal (EXP)

thioacetamide (ISO)

Triptolide (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

magnesium ion homeostasis (ISO)

methylation (IEA)

tRNA methylation (IDA,IEA)

tRNA N1-guanine methylation (IBA,IMP)

Cellular Component

actin cytoskeleton (IDA)

cytosol (IBA,IDA)

extracellular exosome (HDA)

nucleolus (IDA,IEA)

nucleoplasm (IBA,IDA)

nucleus (IBA,IDA,IEA)

Molecular Function

methyltransferase activity (IEA)

protein binding (IPI)

RNA binding (HDA)

transferase activity (IEA)

tRNA (guanine(9)-N(1))-methyltransferase activity (IEA,IMP)

tRNA (guanine-N1-)-methyltransferase activity (IBA,IDA)

tRNA binding (IBA,IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of the nervous system (IAGP)

Anteverted nares (IAGP)

Autosomal recessive inheritance (IAGP)

Axial hypotonia (IAGP)

Blue sclerae (IAGP)

Brisk reflexes (IAGP)

Broad-based gait (IAGP)

Cerebellar hypoplasia (IAGP)

Clinodactyly (IAGP)

Delayed myelination (IAGP)

Delayed puberty (IAGP)

Delayed thelarche (IAGP)

Deviation of the 5th toe (IAGP)

Diabetes mellitus (IAGP)

Distal muscle weakness (IAGP)

Dorsocervical fat pad (IAGP)

Down-sloping shoulders (IAGP)

Downslanted palpebral fissures (IAGP)

Downturned corners of mouth (IAGP)

Epicanthus (IAGP)

Fine hair (IAGP)

Full cheeks (IAGP)

Global developmental delay (IAGP)

High pitched voice (IAGP)

Hyperinsulinemic hypoglycemia (IAGP)

Hypoglycemia (IAGP)

Hypoplasia of teeth (IAGP)

Hypoplasia of the brainstem (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypotelorism (IAGP)

Hypothyroidism (IAGP)

Intellectual disability (IAGP)

Intellectual disability, severe (IAGP)

Intrauterine growth retardation (IAGP)

Joint laxity (IAGP)

Ketosis (IAGP)

Kyphoscoliosis (IAGP)

Long philtrum (IAGP)

Low anterior hairline (IAGP)

Macrotia (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Motor delay (IAGP)

Narrow face (IAGP)

Narrow forehead (IAGP)

Narrow mouth (IAGP)

Oligodontia (IAGP)

Osteoporosis (IAGP)

Pectus excavatum (IAGP)

Pes valgus (IAGP)

Poor speech (IAGP)

Primary amenorrhea (IAGP)

Primary microcephaly (IAGP)

Proportionate short stature (IAGP)

Round face (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Severe demyelination of the white matter (IAGP)

Severe postnatal growth retardation (IAGP)

Short neck (IAGP)

Short nose (IAGP)

Short philtrum (IAGP)

Short stature (IAGP)

Slender finger (IAGP)

Slender toe (IAGP)

Small for gestational age (IAGP)

Sparse hair (IAGP)

Spastic paraparesis (IAGP)

Synophrys (IAGP)

Thin upper lip vermilion (IAGP)

Wide nose (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
4.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:19056867	PMID:20459617	PMID:21873635	PMID:22658674	PMID:22863883	PMID:23042678	PMID:24204302	PMID:25053765	PMID:26297882	PMID:26496610	PMID:26526202	PMID:29507755
PMID:30247717	PMID:31292261	PMID:32213595	PMID:32296183	PMID:32392304	PMID:33961781

Genomics

Comparative Map Data

TRMT10A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	99,546,711 - 99,564,039 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	4	99,546,709 - 99,564,039 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	100,467,868 - 100,485,196 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	100,686,904 - 100,703,848 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	4	100,825,061 - 100,842,003	NCBI
Celera	4	97,765,280 - 97,782,608 (-)	NCBI
Cytogenetic Map	4	q23	NCBI
HuRef	4	96,205,953 - 96,223,232 (-)	NCBI		HuRef
CHM1_1	4	100,444,338 - 100,461,662 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	102,861,479 - 102,878,808 (-)	NCBI

Trmt10a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	137,849,209 - 137,865,582 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	3	137,849,209 - 137,865,582 (+)	Ensembl
GRCm38	3	138,143,448 - 138,159,821 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	138,143,448 - 138,159,821 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	137,806,502 - 137,822,785 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	3	138,080,925 - 138,097,208 (+)	NCBI			mm8
Celera	3	144,554,497 - 144,570,828 (+)	NCBI		Celera
Cytogenetic Map	3	G3	NCBI

Trmt10a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	2	226,669,445 - 226,684,166 (+)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	2	226,669,832 - 226,684,151 (+)	Ensembl
Rnor_6.0	2	243,422,811 - 243,437,533 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	243,422,811 - 243,438,050 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	261,963,896 - 261,978,618 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	235,670,051 - 235,683,261 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	2	218,825,623 - 218,838,832 (+)	NCBI		Celera
Cytogenetic Map	2	q44	NCBI

Trmt10a
(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_004955496	8,026,569 - 8,037,802 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955496	8,021,747 - 8,037,562 (+)	NCBI	ChiLan1.0	ChiLan1.0

TRMT10A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	4	102,631,501 - 102,648,770 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	102,631,501 - 102,648,454 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	4	91,970,440 - 91,987,722 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

TRMT10A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	21,554,096 - 21,570,894 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	21,555,045 - 21,570,338 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	20,325,736 - 20,343,112 (+)	NCBI
ROS_Cfam_1.0	32	21,774,481 - 21,792,045 (-)	NCBI
ROS_Cfam_1.0 Ensembl	32	21,773,270 - 21,791,576 (-)	Ensembl
UMICH_Zoey_3.1	32	21,751,224 - 21,768,766 (-)	NCBI
UNSW_CanFamBas_1.0	32	21,538,921 - 21,556,250 (-)	NCBI
UU_Cfam_GSD_1.0	32	18,312,807 - 18,330,371 (+)	NCBI

Trmt10a
(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_024405301	20,056,582 - 20,070,786 (+)	NCBI
SpeTri2.0	NW_004936520	3,400,029 - 3,413,867 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TRMT10A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	120,879,523 - 120,917,433 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	120,879,067 - 120,917,442 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	130,095,032 - 130,133,417 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TRMT10A
(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	7	47,689,865 - 47,706,540 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	7	47,691,555 - 47,701,748 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666037	26,154,118 - 26,171,617 (-)	NCBI	Vero_WHO_p1.0

Trmt10a
(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_004624830	7,519,851 - 7,530,772 (+)	Ensembl	HetGla_female_1.0		hetGla2
HetGla 1.0	NW_004624830	7,515,810 - 7,529,980 (+)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

RH102787

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	100,467,997 - 100,468,116	UniSTS	GRCh37
Build 36	4	100,687,020 - 100,687,139	RGD	NCBI36
Celera	4	97,765,413 - 97,765,532	RGD
Cytogenetic Map	4	q23	UniSTS
HuRef	4	96,206,086 - 96,206,205	UniSTS
GeneMap99-GB4 RH Map	4	494.02	UniSTS

STS-AA001648

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	100,468,096 - 100,468,277	UniSTS	GRCh37
Build 36	4	100,687,119 - 100,687,300	RGD	NCBI36
Celera	4	97,765,512 - 97,765,693	RGD
Cytogenetic Map	4	q23	UniSTS
HuRef	4	96,206,185 - 96,206,366	UniSTS
GeneMap99-GB4 RH Map	4	490.71	UniSTS
NCBI RH Map	4	1161.2	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1887
Count of miRNA genes:	600
Interacting mature miRNAs:	668
Transcripts:	ENST00000273962, ENST00000394876, ENST00000394877, ENST00000455368, ENST00000507394, ENST00000514547, ENST00000515831
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.

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

241

165

Low

2410

2498

1716

619

1311

459

4345

2111

3676

395

1295

1563

174

1203

2781

Below cutoff

493

399

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_041774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001134665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001134666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375882	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC083902	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF106046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW242551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB455183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU668342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000273962 ⟹ ENSP00000273962

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,546,727 - 99,563,668 (-)	Ensembl

RefSeq Acc Id:

ENST00000394876 ⟹ ENSP00000378342

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,546,711 - 99,564,039 (-)	Ensembl

RefSeq Acc Id:

ENST00000394877 ⟹ ENSP00000378343

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,546,709 - 99,564,017 (-)	Ensembl

RefSeq Acc Id:

ENST00000455368 ⟹ ENSP00000397551

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,553,813 - 99,563,730 (-)	Ensembl

RefSeq Acc Id:

ENST00000507394

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,557,689 - 99,563,672 (-)	Ensembl

RefSeq Acc Id:

ENST00000514547 ⟹ ENSP00000423628

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,553,831 - 99,563,723 (-)	Ensembl

RefSeq Acc Id:

ENST00000515831

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	4	99,556,146 - 99,557,530 (-)	Ensembl

RefSeq Acc Id:

NM_001134665 ⟹ NP_001128137

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,564,039 (-)	NCBI
GRCh37	4	100,467,864 - 100,485,189 (-)	RGD
Celera	4	97,765,280 - 97,782,608 (-)	RGD
HuRef	4	96,205,953 - 96,223,232 (-)	RGD
CHM1_1	4	100,444,338 - 100,461,687 (-)	NCBI
T2T-CHM13v2.0	4	102,861,479 - 102,878,808 (-)	NCBI

Sequence:

show sequence

ACTGCGTAACTACCGCCCCTGCCTCTGGGAATTGAAGTTTCTGTGGAAGGAAGCGTGAGCCGTA
ACCAGGCCAACCCAGAAAGGCTTTCTTTCTGAGATTTCACTTCCCTGTCAACTCTTCAGCTCGT
TGTTTTTCAGAGGCACCAAATAATGTCATCTGAAATGTTGCCAGCATTTATTGAAACTTCTAAT
GTTGACAAAAAGCAAGGCATAAATGAAGATCAAGAGGAGAGCCAGAAGCCAAGATTAGGTGAAG
GGTGTGAACCAATATCTAAACGACAAATGAAAAAACTAATAAAACAGAAACAATGGGAAGAGCA
ACGGGAACTCCGCAAACAAAAGCGAAAAGAAAAACGCAAGAGGAAAAAATTAGAGCGACAATGT
CAAATGGAACCAAACTCAGATGGACATGACAGAAAACGTGTTCGAAGAGATGTTGTTCATAGCA
CCCTTCGCCTTATTATTGACTGTAGTTTTGATCACTTGATGGTATTAAAGGACATTAAGAAACT
TCATAAGCAGATTCAACGATGTTACGCAGAAAACCGACGGGCACTGCATCCTGTGCAGTTTTAC
TTGACAAGCCACGGAGGCCAGCTGAAAAAGAACATGGATGAAAATGACAAAGGATGGGTCAACT
GGAAGGATATCCATATCAAACCAGAGCACTATAGTGAACTCATAAAGAAAGAAGACCTGATTTA
CCTTACGTCAGATTCACCTAATATACTGAAGGAATTAGATGAATCAAAGGCCTATGTGATTGGA
GGATTAGTAGATCACAACCATCACAAGGGACTCACATATAAACAAGCGTCAGATTATGGAATCA
ATCATGCACAGCTCCCACTTGGAAATTTTGTGAAGATGAATAGTCGAAAAGTTTTGGCAGTTAA
TCATGTGTTTGAAATTATTCTGGAATACCTGGAAACAAGAGACTGGCAAGAAGCATTTTTTACT
ATCTTGCCCCAACGGAAAGGAGCTGTTCCCACAGACAAAGCCTGTGAAAGTGCTTCTCATGACA
ATCAGTCTGTCAGGATGGAGGAAGGTGGATCGGACAGTGATTCCAGTGAGGAGGAATATAGCAG
AAATGAACTAGATTCACCACATGAAGAAAAGCAGGATAAGGAAAATCACACTGAATCTACAGTG
AACTCTCTGCCACACTAATGTTACCTGGTTTCCTTTTAGTTTAAGGAAAAATTAGGAGAAAGTG
AGGTGCTATATAGAATATTGAAATTGGAAGAACATTTTATTTTCTCTTATTTCTGTTGTGATTT
TTAAAAACTTTTTTTTGGACCTAAATAATAATAAAAAAAAAAGCCCTTTAAACTTTGTAAGGAA
ATATTTTTTGATTTTGCGTAAGAAGATTTAAATGTGTATGTGATTTTTTTTGTTTTTGTTTTTA
AAGCCTCAGTAGTTTCTAGATAATTTTACTGTATTAGTATATTTTCATTTTCTTTCATTTTATA
TTCTTTAGAATGTGCCTTCTGACCTTTCAGTTTTTTAATTTTATAGTCACATCAACATCTTTAT
GATCTATTGCCTATATATCTGTGAGGGCACATATTCATAAATATACTGTCAATCTATCAGCATT
TGTGTATGGTAGGTTACCCTCTATTTGCAGCTTTTATGTTTAAATTAGTTACTTGAAAGAATGT
AGTAATTTTAGGAAGAAGTATCAGTTTGATAGACTTAATAATTCATTTCTTTTGGACTATGGAG
CGCATATCTGTTCCTTCTTTATGATGCCTTTTTATGGTTCTGAAGTAATTACTGAAGAGTTGAG
AATCTCTTTAATGCATTTTCTTAATTCTTACAATGGTGATAAGTTACTTCAATTATAAAATTGA
ATTTTGCAGACTAAATTATTTTATAAGGCTGTTGCTATTGAAAGATCAATTTTGTCTTTACCTG
CATTTAAAATGGAACAGCTCTTAGCAGCTGTGGTTTTTTTTTCCATATTTTTTTTAAATTTGTT
GGCTCTTAAGATGAATAAAGTTTATAGGTGCATCTGCCTCCTCTTCTCTAAGAATATGCATACT
AATGTTTGTTTCTATAAATCAAATACACATGTGATAATATGCATGTAAATACATAACTATCCTC
ATCATGTATGGCTCTCAGTTCTTAATTGATGATAACATGATTGAATTGCCATATATCTGTATTA
CTTGTGTGAATGGTTGTGTTGAACACGCTAAGAACAATTTGAATTTTATTAAGTACAAAAATCC
TTAACGTTTGTATGGGAACATTGGCAAGAAAGAATAGTGTGAAAGGGAACTGTTTTAGTTTCCT
ATCAGTAATTGTACATGCAGTTAAATGTTTAAGGTAAAATGATTGGTCTCTGTCACAGCTAAAA
GATTTCAGTAGCCTTCATTGAGTTTGGGTAAAATAAGTTGCTGTTCTTTTGTCTTCTTTTTAAT
ATATAAAAGTTATATTTAAAAAGTATATAACATACTATATATGTTACATACTAACATATATATA
CACAACAGAAAGTTTATTGGATTTAGTACTGATATTTACTGTCTATTTTTGTTACTTTGTTCTT
AGTAATCTATTATAGTTACCTATTTTAAGGTAAGGTCTGTAGGCAAGATATGTAAGTAAAGACA
AGCCCTACAATTTTAAAATAACAAAGCTTATGTCTTAAGTTGTATTTTTTCAAAGGTTCATGTT
TTTCTGAGTAAATGTGGTTTATTAGCATGAAATATTATGCCTTTTACTTAAATTATTTTATGTA
AAATAGGGCACTGTTTAATTATGAAAGGGGGAAAATCATTCCAAATAAGAGTTTAATTTTTATT
AATTATAAAAAACTCTGTATTAGTTTCCTAGATGTGCTAGAACAAATTACCACAAACTGGGTGG
CTTTAAACAACAGAAATTTATTCTCTTAACAGTTCCAGAGACTAAATGTCCAGACTCACAATGT
CCCAGTGCCATGCTTCCTCCTTAGGCCCTAGGAAAGAATACTTCCTAGCCTCTTCCTGGCTTTT
GGTGGTTGCCAGCAATCCCTGCTGTTCCTTAGCCTATAGTGGCTTGACTCCAATCTCAGTTTTG
TTGTCAAGTGGTCTTCTACCCTGTCTTCTATGTTTGTATCCGTGTCCAAACTCTTTTTCTAGGG
AGACCAGCACTGGATTAGAGTTCACCATGATCCAATATGACCTCATCTTGACTACATCCGCAAA
GACCCTGTCTCCAAATAAGGTCACATTTACAGGGTACCATGTGTTAGGATTTGACATATCTTTT
GGGGGACACAATTCTACCCACTACAGGCCCATATCTTATCTAGGATGTTGGTGGCAAGAAGGTG
AAGATTACTACCTCTTTTGATATAACTAGTTTCTGAGGTATTTAAAAATTTGGTTTTAAAAATA
TTAAGCTTTTTGCTCATTTGCATGTATACTTTTCTCTCAACATTGTTTTGGTTTATTTAGGTTA
TTTGTTAAAACTTCAGTAAATACTAAAGTTACTTGTATTAGAACATAATAAAAGTAGAGAATTA
AACTACCTAAATAAATGCATCAAAAAA

hide sequence

RefSeq Acc Id:

NM_001134666 ⟹ NP_001128138

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,564,039 (-)	NCBI
GRCh37	4	100,467,864 - 100,485,189 (-)	RGD
Celera	4	97,765,280 - 97,782,608 (-)	RGD
HuRef	4	96,205,953 - 96,223,232 (-)	RGD
CHM1_1	4	100,444,338 - 100,461,687 (-)	NCBI
T2T-CHM13v2.0	4	102,861,479 - 102,878,808 (-)	NCBI

Sequence:

show sequence

ACTGCGTAACTACCGCCCCTGCCTCTGGGAATTGAAGTTTCTGTGGAAGGAAGCGTGAGCCGTA
ACCAGGCCAACCCAGAAAGGCTTTCTTTCTGAGATTTCACTTCCCTGTCAACTCTTCAGCTCGA
GGCACCAAATAATGTCATCTGAAATGTTGCCAGCATTTATTGAAACTTCTAATGTTGACAAAAA
GCAAGGCATAAATGAAGATCAAGAGGAGAGCCAGAAGCCAAGATTAGGTGAAGGGTGTGAACCA
ATATCTAAACGACAAATGAAAAAACTAATAAAACAGAAACAATGGGAAGAGCAACGGGAACTCC
GCAAACAAAAGCGAAAAGAAAAACGCAAGAGGAAAAAATTAGAGCGACAATGTCAAATGGAACC
AAACTCAGATGGACATGACAGAAAACGTGTTCGAAGAGATGTTGTTCATAGCACCCTTCGCCTT
ATTATTGACTGTAGTTTTGATCACTTGATGGTATTAAAGGACATTAAGAAACTTCATAAGCAGA
TTCAACGATGTTACGCAGAAAACCGACGGGCACTGCATCCTGTGCAGTTTTACTTGACAAGCCA
CGGAGGCCAGCTGAAAAAGAACATGGATGAAAATGACAAAGGATGGGTCAACTGGAAGGATATC
CATATCAAACCAGAGCACTATAGTGAACTCATAAAGAAAGAAGACCTGATTTACCTTACGTCAG
ATTCACCTAATATACTGAAGGAATTAGATGAATCAAAGGCCTATGTGATTGGAGGATTAGTAGA
TCACAACCATCACAAGGGACTCACATATAAACAAGCGTCAGATTATGGAATCAATCATGCACAG
CTCCCACTTGGAAATTTTGTGAAGATGAATAGTCGAAAAGTTTTGGCAGTTAATCATGTGTTTG
AAATTATTCTGGAATACCTGGAAACAAGAGACTGGCAAGAAGCATTTTTTACTATCTTGCCCCA
ACGGAAAGGAGCTGTTCCCACAGACAAAGCCTGTGAAAGTGCTTCTCATGACAATCAGTCTGTC
AGGATGGAGGAAGGTGGATCGGACAGTGATTCCAGTGAGGAGGAATATAGCAGAAATGAACTAG
ATTCACCACATGAAGAAAAGCAGGATAAGGAAAATCACACTGAATCTACAGTGAACTCTCTGCC
ACACTAATGTTACCTGGTTTCCTTTTAGTTTAAGGAAAAATTAGGAGAAAGTGAGGTGCTATAT
AGAATATTGAAATTGGAAGAACATTTTATTTTCTCTTATTTCTGTTGTGATTTTTAAAAACTTT
TTTTTGGACCTAAATAATAATAAAAAAAAAAGCCCTTTAAACTTTGTAAGGAAATATTTTTTGA
TTTTGCGTAAGAAGATTTAAATGTGTATGTGATTTTTTTTGTTTTTGTTTTTAAAGCCTCAGTA
GTTTCTAGATAATTTTACTGTATTAGTATATTTTCATTTTCTTTCATTTTATATTCTTTAGAAT
GTGCCTTCTGACCTTTCAGTTTTTTAATTTTATAGTCACATCAACATCTTTATGATCTATTGCC
TATATATCTGTGAGGGCACATATTCATAAATATACTGTCAATCTATCAGCATTTGTGTATGGTA
GGTTACCCTCTATTTGCAGCTTTTATGTTTAAATTAGTTACTTGAAAGAATGTAGTAATTTTAG
GAAGAAGTATCAGTTTGATAGACTTAATAATTCATTTCTTTTGGACTATGGAGCGCATATCTGT
TCCTTCTTTATGATGCCTTTTTATGGTTCTGAAGTAATTACTGAAGAGTTGAGAATCTCTTTAA
TGCATTTTCTTAATTCTTACAATGGTGATAAGTTACTTCAATTATAAAATTGAATTTTGCAGAC
TAAATTATTTTATAAGGCTGTTGCTATTGAAAGATCAATTTTGTCTTTACCTGCATTTAAAATG
GAACAGCTCTTAGCAGCTGTGGTTTTTTTTTCCATATTTTTTTTAAATTTGTTGGCTCTTAAGA
TGAATAAAGTTTATAGGTGCATCTGCCTCCTCTTCTCTAAGAATATGCATACTAATGTTTGTTT
CTATAAATCAAATACACATGTGATAATATGCATGTAAATACATAACTATCCTCATCATGTATGG
CTCTCAGTTCTTAATTGATGATAACATGATTGAATTGCCATATATCTGTATTACTTGTGTGAAT
GGTTGTGTTGAACACGCTAAGAACAATTTGAATTTTATTAAGTACAAAAATCCTTAACGTTTGT
ATGGGAACATTGGCAAGAAAGAATAGTGTGAAAGGGAACTGTTTTAGTTTCCTATCAGTAATTG
TACATGCAGTTAAATGTTTAAGGTAAAATGATTGGTCTCTGTCACAGCTAAAAGATTTCAGTAG
CCTTCATTGAGTTTGGGTAAAATAAGTTGCTGTTCTTTTGTCTTCTTTTTAATATATAAAAGTT
ATATTTAAAAAGTATATAACATACTATATATGTTACATACTAACATATATATACACAACAGAAA
GTTTATTGGATTTAGTACTGATATTTACTGTCTATTTTTGTTACTTTGTTCTTAGTAATCTATT
ATAGTTACCTATTTTAAGGTAAGGTCTGTAGGCAAGATATGTAAGTAAAGACAAGCCCTACAAT
TTTAAAATAACAAAGCTTATGTCTTAAGTTGTATTTTTTCAAAGGTTCATGTTTTTCTGAGTAA
ATGTGGTTTATTAGCATGAAATATTATGCCTTTTACTTAAATTATTTTATGTAAAATAGGGCAC
TGTTTAATTATGAAAGGGGGAAAATCATTCCAAATAAGAGTTTAATTTTTATTAATTATAAAAA
ACTCTGTATTAGTTTCCTAGATGTGCTAGAACAAATTACCACAAACTGGGTGGCTTTAAACAAC
AGAAATTTATTCTCTTAACAGTTCCAGAGACTAAATGTCCAGACTCACAATGTCCCAGTGCCAT
GCTTCCTCCTTAGGCCCTAGGAAAGAATACTTCCTAGCCTCTTCCTGGCTTTTGGTGGTTGCCA
GCAATCCCTGCTGTTCCTTAGCCTATAGTGGCTTGACTCCAATCTCAGTTTTGTTGTCAAGTGG
TCTTCTACCCTGTCTTCTATGTTTGTATCCGTGTCCAAACTCTTTTTCTAGGGAGACCAGCACT
GGATTAGAGTTCACCATGATCCAATATGACCTCATCTTGACTACATCCGCAAAGACCCTGTCTC
CAAATAAGGTCACATTTACAGGGTACCATGTGTTAGGATTTGACATATCTTTTGGGGGACACAA
TTCTACCCACTACAGGCCCATATCTTATCTAGGATGTTGGTGGCAAGAAGGTGAAGATTACTAC
CTCTTTTGATATAACTAGTTTCTGAGGTATTTAAAAATTTGGTTTTAAAAATATTAAGCTTTTT
GCTCATTTGCATGTATACTTTTCTCTCAACATTGTTTTGGTTTATTTAGGTTATTTGTTAAAAC
TTCAGTAAATACTAAAGTTACTTGTATTAGAACATAATAAAAGTAGAGAATTAAACTACCTAAA
TAAATGCATCAAAAAA

hide sequence

RefSeq Acc Id:

NM_001375880 ⟹ NP_001362809

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,563,723 (-)	NCBI
T2T-CHM13v2.0	4	102,861,479 - 102,878,492 (-)	NCBI

Sequence:

show sequence

CTACCCAGCTGCTCCCTGGTTCGCCAGAGACAGCTTAATCCCGTCTCTGAAATGCGTTTGCTGG
CTGGGAGCCTAGAAGGGATAGTGGGCGAGGCTCCGCCCCGTGGTGGGGCGCTTTCCGTCGGCGT
GTGTTTTGGGGTTGCCATCGGCCCGTAGTATGTGAAAATTGTTTTTCAGAGGCACCAAATAATG
TCATCTGAAATGTTGCCAGCATTTATTGAAACTTCTAATGTTGACAAAAAGCAAGGCATAAATG
AAGATCAAGAGGAGAGCCAGAAGCCAAGATTAGGTGAAGGGTGTGAACCAATATCTAAACGACA
AATGAAAAAACTAATAAAACAGAAACAATGGGAAGAGCAACGGGAACTCCGCAAACAAAAGCGA
AAAGAAAAACGCAAGAGGAAAAAATTAGAGCGACAATGTCAAATGGAACCAAACTCAGATGGAC
ATGACAGAAAACGTGTTCGAAGAGATGTTGTTCATAGCACCCTTCGCCTTATTATTGACTGTAG
TTTTGATCACTTGATGGTATTAAAGGACATTAAGAAACTTCATAAGCAGATTCAACGATGTTAC
GCAGAAAACCGACGGGCACTGCATCCTGTGCAGTTTTACTTGACAAGCCACGGAGGCCAGCTGA
AAAAGAACATGGATGAAAATGACAAAGGATGGGTCAACTGGAAGGATATCCATATCAAACCAGA
GCACTATAGTGAACTCATAAAGAAAGAAGACCTGATTTACCTTACGTCAGATTCACCTAATATA
CTGAAGGAATTAGATGAATCAAAGGCCTATGTGATTGGAGGATTAGTAGATCACAACCATCACA
AGGGACTCACATATAAACAAGCGTCAGATTATGGAATCAATCATGCACAGCTCCCACTTGGAAA
TTTTGTGAAGATGAATAGTCGAAAAGTTTTGGCAGTTAATCATGTGTTTGAAATTATTCTGGAA
TACCTGGAAACAAGAGACTGGCAAGAAGCATTTTTTACTATCTTGCCCCAACGGAAAGGAGCTG
TTCCCACAGACAAAGCCTGTGAAAGTGCTTCTCATGACAATCAGTCTGTCAGGATGGAGGAAGG
TGGATCGGACAGTGATTCCAGTGAGGAGGAATATAGCAGAAATGAACTAGATTCACCACATGAA
GAAAAGCAGGATAAGGAAAATCACACTGAATCTACAGTGAACTCTCTGCCACACTAATGTTACC
TGGTTTCCTTTTAGTTTAAGGAAAAATTAGGAGAAAGTGAGGTGCTATATAGAATATTGAAATT
GGAAGAACATTTTATTTTCTCTTATTTCTGTTGTGATTTTTAAAAACTTTTTTTTGGACCTAAA
TAATAATAAAAAAAAAAGCCCTTTAAACTTTGTAAGGAAATATTTTTTGATTTTGCGTAAGAAG
ATTTAAATGTGTATGTGATTTTTTTTGTTTTTGTTTTTAAAGCCTCAGTAGTTTCTAGATAATT
TTACTGTATTAGTATATTTTCATTTTCTTTCATTTTATATTCTTTAGAATGTGCCTTCTGACCT
TTCAGTTTTTTAATTTTATAGTCACATCAACATCTTTATGATCTATTGCCTATATATCTGTGAG
GGCACATATTCATAAATATACTGTCAATCTATCAGCATTTGTGTATGGTAGGTTACCCTCTATT
TGCAGCTTTTATGTTTAAATTAGTTACTTGAAAGAATGTAGTAATTTTAGGAAGAAGTATCAGT
TTGATAGACTTAATAATTCATTTCTTTTGGACTATGGAGCGCATATCTGTTCCTTCTTTATGAT
GCCTTTTTATGGTTCTGAAGTAATTACTGAAGAGTTGAGAATCTCTTTAATGCATTTTCTTAAT
TCTTACAATGGTGATAAGTTACTTCAATTATAAAATTGAATTTTGCAGACTAAATTATTTTATA
AGGCTGTTGCTATTGAAAGATCAATTTTGTCTTTACCTGCATTTAAAATGGAACAGCTCTTAGC
AGCTGTGGTTTTTTTTTCCATATTTTTTTTAAATTTGTTGGCTCTTAAGATGAATAAAGTTTAT
AGGTGCATCTGCCTCCTCTTCTCTAAGAATATGCATACTAATGTTTGTTTCTATAAATCAAATA
CACATGTGATAATATGCATGTAAATACATAACTATCCTCATCATGTATGGCTCTCAGTTCTTAA
TTGATGATAACATGATTGAATTGCCATATATCTGTATTACTTGTGTGAATGGTTGTGTTGAACA
CGCTAAGAACAATTTGAATTTTATTAAGTACAAAAATCCTTAACGTTTGTATGGGAACATTGGC
AAGAAAGAATAGTGTGAAAGGGAACTGTTTTAGTTTCCTATCAGTAATTGTACATGCAGTTAAA
TGTTTAAGGTAAAATGATTGGTCTCTGTCACAGCTAAAAGATTTCAGTAGCCTTCATTGAGTTT
GGGTAAAATAAGTTGCTGTTCTTTTGTCTTCTTTTTAATATATAAAAGTTATATTTAAAAAGTA
TATAACATACTATATATGTTACATACTAACATATATATACACAACAGAAAGTTTATTGGATTTA
GTACTGATATTTACTGTCTATTTTTGTTACTTTGTTCTTAGTAATCTATTATAGTTACCTATTT
TAAGGTAAGGTCTGTAGGCAAGATATGTAAGTAAAGACAAGCCCTACAATTTTAAAATAACAAA
GCTTATGTCTTAAGTTGTATTTTTTCAAAGGTTCATGTTTTTCTGAGTAAATGTGGTTTATTAG
CATGAAATATTATGCCTTTTACTTAAATTATTTTATGTAAAATAGGGCACTGTTTAATTATGAA
AGGGGGAAAATCATTCCAAATAAGAGTTTAATTTTTATTAATTATAAAAAACTCTGTATTAGTT
TCCTAGATGTGCTAGAACAAATTACCACAAACTGGGTGGCTTTAAACAACAGAAATTTATTCTC
TTAACAGTTCCAGAGACTAAATGTCCAGACTCACAATGTCCCAGTGCCATGCTTCCTCCTTAGG
CCCTAGGAAAGAATACTTCCTAGCCTCTTCCTGGCTTTTGGTGGTTGCCAGCAATCCCTGCTGT
TCCTTAGCCTATAGTGGCTTGACTCCAATCTCAGTTTTGTTGTCAAGTGGTCTTCTACCCTGTC
TTCTATGTTTGTATCCGTGTCCAAACTCTTTTTCTAGGGAGACCAGCACTGGATTAGAGTTCAC
CATGATCCAATATGACCTCATCTTGACTACATCCGCAAAGACCCTGTCTCCAAATAAGGTCACA
TTTACAGGGTACCATGTGTTAGGATTTGACATATCTTTTGGGGGACACAATTCTACCCACTACA
GGCCCATATCTTATCTAGGATGTTGGTGGCAAGAAGGTGAAGATTACTACCTCTTTTGATATAA
CTAGTTTCTGAGGTATTTAAAAATTTGGTTTTAAAAATATTAAGCTTTTTGCTCATTTGCATGT
ATACTTTTCTCTCAACATTGTTTTGGTTTATTTAGGTTATTTGTTAAAACTTCAGTAAATACTA
AAGTTACTTGTATTAGAACATAATAAAAGTAGAGAATTAAACTACCTAAATAAATGCATCAAAA
AA

hide sequence

RefSeq Acc Id:

NM_001375881 ⟹ NP_001362810

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,563,723 (-)	NCBI
T2T-CHM13v2.0	4	102,861,479 - 102,878,492 (-)	NCBI

Sequence:

show sequence

CTACCCAGCTGCTCCCTGGTTCGCCAGAGACAGCTTAATCCCGTCTCTGAAATGCGTTTGCTGG
CTGGGAGCCTAGAAGGGATAGTGGGCGAGGCTCCGCCCCGTGGTGGGGCGCTTTCCGTCGGCGT
GTGTTTTGGGGTTGCCATCGGCCCGTAGTATGTGAAAAAGGCACCAAATAATGTCATCTGAAAT
GTTGCCAGCATTTATTGAAACTTCTAATGTTGACAAAAAGCAAGGCATAAATGAAGATCAAGAG
GAGAGCCAGAAGCCAAGATTAGGTGAAGGGTGTGAACCAATATCTAAACGACAAATGAAAAAAC
TAATAAAACAGAAACAATGGGAAGAGCAACGGGAACTCCGCAAACAAAAGCGAAAAGAAAAACG
CAAGAGGAAAAAATTAGAGCGACAATGTCAAATGGAACCAAACTCAGATGGACATGACAGAAAA
CGTGTTCGAAGAGATGTTGTTCATAGCACCCTTCGCCTTATTATTGACTGTAGTTTTGATCACT
TGATGGTATTAAAGGACATTAAGAAACTTCATAAGCAGATTCAACGATGTTACGCAGAAAACCG
ACGGGCACTGCATCCTGTGCAGTTTTACTTGACAAGCCACGGAGGCCAGCTGAAAAAGAACATG
GATGAAAATGACAAAGGATGGGTCAACTGGAAGGATATCCATATCAAACCAGAGCACTATAGTG
AACTCATAAAGAAAGAAGACCTGATTTACCTTACGTCAGATTCACCTAATATACTGAAGGAATT
AGATGAATCAAAGGCCTATGTGATTGGAGGATTAGTAGATCACAACCATCACAAGGGACTCACA
TATAAACAAGCGTCAGATTATGGAATCAATCATGCACAGCTCCCACTTGGAAATTTTGTGAAGA
TGAATAGTCGAAAAGTTTTGGCAGTTAATCATGTGTTTGAAATTATTCTGGAATACCTGGAAAC
AAGAGACTGGCAAGAAGCATTTTTTACTATCTTGCCCCAACGGAAAGGAGCTGTTCCCACAGAC
AAAGCCTGTGAAAGTGCTTCTCATGACAATCAGTCTGTCAGGATGGAGGAAGGTGGATCGGACA
GTGATTCCAGTGAGGAGGAATATAGCAGAAATGAACTAGATTCACCACATGAAGAAAAGCAGGA
TAAGGAAAATCACACTGAATCTACAGTGAACTCTCTGCCACACTAATGTTACCTGGTTTCCTTT
TAGTTTAAGGAAAAATTAGGAGAAAGTGAGGTGCTATATAGAATATTGAAATTGGAAGAACATT
TTATTTTCTCTTATTTCTGTTGTGATTTTTAAAAACTTTTTTTTGGACCTAAATAATAATAAAA
AAAAAAGCCCTTTAAACTTTGTAAGGAAATATTTTTTGATTTTGCGTAAGAAGATTTAAATGTG
TATGTGATTTTTTTTGTTTTTGTTTTTAAAGCCTCAGTAGTTTCTAGATAATTTTACTGTATTA
GTATATTTTCATTTTCTTTCATTTTATATTCTTTAGAATGTGCCTTCTGACCTTTCAGTTTTTT
AATTTTATAGTCACATCAACATCTTTATGATCTATTGCCTATATATCTGTGAGGGCACATATTC
ATAAATATACTGTCAATCTATCAGCATTTGTGTATGGTAGGTTACCCTCTATTTGCAGCTTTTA
TGTTTAAATTAGTTACTTGAAAGAATGTAGTAATTTTAGGAAGAAGTATCAGTTTGATAGACTT
AATAATTCATTTCTTTTGGACTATGGAGCGCATATCTGTTCCTTCTTTATGATGCCTTTTTATG
GTTCTGAAGTAATTACTGAAGAGTTGAGAATCTCTTTAATGCATTTTCTTAATTCTTACAATGG
TGATAAGTTACTTCAATTATAAAATTGAATTTTGCAGACTAAATTATTTTATAAGGCTGTTGCT
ATTGAAAGATCAATTTTGTCTTTACCTGCATTTAAAATGGAACAGCTCTTAGCAGCTGTGGTTT
TTTTTTCCATATTTTTTTTAAATTTGTTGGCTCTTAAGATGAATAAAGTTTATAGGTGCATCTG
CCTCCTCTTCTCTAAGAATATGCATACTAATGTTTGTTTCTATAAATCAAATACACATGTGATA
ATATGCATGTAAATACATAACTATCCTCATCATGTATGGCTCTCAGTTCTTAATTGATGATAAC
ATGATTGAATTGCCATATATCTGTATTACTTGTGTGAATGGTTGTGTTGAACACGCTAAGAACA
ATTTGAATTTTATTAAGTACAAAAATCCTTAACGTTTGTATGGGAACATTGGCAAGAAAGAATA
GTGTGAAAGGGAACTGTTTTAGTTTCCTATCAGTAATTGTACATGCAGTTAAATGTTTAAGGTA
AAATGATTGGTCTCTGTCACAGCTAAAAGATTTCAGTAGCCTTCATTGAGTTTGGGTAAAATAA
GTTGCTGTTCTTTTGTCTTCTTTTTAATATATAAAAGTTATATTTAAAAAGTATATAACATACT
ATATATGTTACATACTAACATATATATACACAACAGAAAGTTTATTGGATTTAGTACTGATATT
TACTGTCTATTTTTGTTACTTTGTTCTTAGTAATCTATTATAGTTACCTATTTTAAGGTAAGGT
CTGTAGGCAAGATATGTAAGTAAAGACAAGCCCTACAATTTTAAAATAACAAAGCTTATGTCTT
AAGTTGTATTTTTTCAAAGGTTCATGTTTTTCTGAGTAAATGTGGTTTATTAGCATGAAATATT
ATGCCTTTTACTTAAATTATTTTATGTAAAATAGGGCACTGTTTAATTATGAAAGGGGGAAAAT
CATTCCAAATAAGAGTTTAATTTTTATTAATTATAAAAAACTCTGTATTAGTTTCCTAGATGTG
CTAGAACAAATTACCACAAACTGGGTGGCTTTAAACAACAGAAATTTATTCTCTTAACAGTTCC
AGAGACTAAATGTCCAGACTCACAATGTCCCAGTGCCATGCTTCCTCCTTAGGCCCTAGGAAAG
AATACTTCCTAGCCTCTTCCTGGCTTTTGGTGGTTGCCAGCAATCCCTGCTGTTCCTTAGCCTA
TAGTGGCTTGACTCCAATCTCAGTTTTGTTGTCAAGTGGTCTTCTACCCTGTCTTCTATGTTTG
TATCCGTGTCCAAACTCTTTTTCTAGGGAGACCAGCACTGGATTAGAGTTCACCATGATCCAAT
ATGACCTCATCTTGACTACATCCGCAAAGACCCTGTCTCCAAATAAGGTCACATTTACAGGGTA
CCATGTGTTAGGATTTGACATATCTTTTGGGGGACACAATTCTACCCACTACAGGCCCATATCT
TATCTAGGATGTTGGTGGCAAGAAGGTGAAGATTACTACCTCTTTTGATATAACTAGTTTCTGA
GGTATTTAAAAATTTGGTTTTAAAAATATTAAGCTTTTTGCTCATTTGCATGTATACTTTTCTC
TCAACATTGTTTTGGTTTATTTAGGTTATTTGTTAAAACTTCAGTAAATACTAAAGTTACTTGT
ATTAGAACATAATAAAAGTAGAGAATTAAACTACCTAAATAAATGCATCAAAAAA

hide sequence

RefSeq Acc Id:

NM_001375882 ⟹ NP_001362811

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,564,039 (-)	NCBI
T2T-CHM13v2.0	4	102,861,479 - 102,878,808 (-)	NCBI

Sequence:

show sequence

ACTGCGTAACTACCGCCCCTGCCTCTGGGAATTGAAGTTTCTGTGGAAGGAAGCGTGAGCCGTA
ACCAGGCCAACCCAGAAAGGCTTTCTTTCTGAGATTTCACTTCCCTGTCAACTCTTCAGCTCGT
TGTTTTTCAGAGGCACCAAATAATGTCATCTGAAATGTTGCCAGCATTTATTGAAACTTCTAAT
GTTGACAAAAAGCAAGGCATAAATGAAGATCAAGAGGAGAGCCAGAAGCCAAGATTAGGTGAAG
GGTGTGAACCAATATCTAAACGACAAATGAAAAAACTAATAAAACAGAAACAATGGGAAGAGCA
ACGGGAACTCCGCAAACAAAAGCGAAAAGAAAAACGCAAGAGGAAAAAATTAGAGCGACAATGT
CAAATGGAACCAAACTCAGATGGACATGACAGAAAACGTGTTCGAAGAGATGTTGTTCATAGCA
CCCTTCGCCTTATTATTGACTGTAGTTTTGATCACTTGATGGTATTAAAGGACATTAAGAAACT
TCATAAGCAGATTCAACGATGTTACGCAGAAAACCGACGGGCACTGCATCCTGTGCAGTTTTAC
TTGACAAGCCACGGAGGCCAGCTGAAAAAGAACATGGATGAAAATGACAAAGGATGGGTCAACT
GGAAGGATATCCATATCAAACCAGAGCACTATAGTGAACTCATAAAGAAAGAAGACCTGATTTA
CCTTACGTCAGATTCACCTAATATACTGAAGGAATTAGATGAATCAAAGGCCTATGTGATTGGA
GGATTAGGACTCACATATAAACAAGCGTCAGATTATGGAATCAATCATGCACAGCTCCCACTTG
GAAATTTTGTGAAGATGAATAGTCGAAAAGTTTTGGCAGTTAATCATGTGTTTGAAATTATTCT
GGAATACCTGGAAACAAGAGACTGGCAAGAAGCATTTTTTACTATCTTGCCCCAACGGAAAGGA
GCTGTTCCCACAGACAAAGCCTGTGAAAGTGCTTCTCATGACAATCAGTCTGTCAGGATGGAGG
AAGGTGGATCGGACAGTGATTCCAGTGAGGAGGAATATAGCAGAAATGAACTAGATTCACCACA
TGAAGAAAAGCAGGATAAGGAAAATCACACTGAATCTACAGTGAACTCTCTGCCACACTAATGT
TACCTGGTTTCCTTTTAGTTTAAGGAAAAATTAGGAGAAAGTGAGGTGCTATATAGAATATTGA
AATTGGAAGAACATTTTATTTTCTCTTATTTCTGTTGTGATTTTTAAAAACTTTTTTTTGGACC
TAAATAATAATAAAAAAAAAAGCCCTTTAAACTTTGTAAGGAAATATTTTTTGATTTTGCGTAA
GAAGATTTAAATGTGTATGTGATTTTTTTTGTTTTTGTTTTTAAAGCCTCAGTAGTTTCTAGAT
AATTTTACTGTATTAGTATATTTTCATTTTCTTTCATTTTATATTCTTTAGAATGTGCCTTCTG
ACCTTTCAGTTTTTTAATTTTATAGTCACATCAACATCTTTATGATCTATTGCCTATATATCTG
TGAGGGCACATATTCATAAATATACTGTCAATCTATCAGCATTTGTGTATGGTAGGTTACCCTC
TATTTGCAGCTTTTATGTTTAAATTAGTTACTTGAAAGAATGTAGTAATTTTAGGAAGAAGTAT
CAGTTTGATAGACTTAATAATTCATTTCTTTTGGACTATGGAGCGCATATCTGTTCCTTCTTTA
TGATGCCTTTTTATGGTTCTGAAGTAATTACTGAAGAGTTGAGAATCTCTTTAATGCATTTTCT
TAATTCTTACAATGGTGATAAGTTACTTCAATTATAAAATTGAATTTTGCAGACTAAATTATTT
TATAAGGCTGTTGCTATTGAAAGATCAATTTTGTCTTTACCTGCATTTAAAATGGAACAGCTCT
TAGCAGCTGTGGTTTTTTTTTCCATATTTTTTTTAAATTTGTTGGCTCTTAAGATGAATAAAGT
TTATAGGTGCATCTGCCTCCTCTTCTCTAAGAATATGCATACTAATGTTTGTTTCTATAAATCA
AATACACATGTGATAATATGCATGTAAATACATAACTATCCTCATCATGTATGGCTCTCAGTTC
TTAATTGATGATAACATGATTGAATTGCCATATATCTGTATTACTTGTGTGAATGGTTGTGTTG
AACACGCTAAGAACAATTTGAATTTTATTAAGTACAAAAATCCTTAACGTTTGTATGGGAACAT
TGGCAAGAAAGAATAGTGTGAAAGGGAACTGTTTTAGTTTCCTATCAGTAATTGTACATGCAGT
TAAATGTTTAAGGTAAAATGATTGGTCTCTGTCACAGCTAAAAGATTTCAGTAGCCTTCATTGA
GTTTGGGTAAAATAAGTTGCTGTTCTTTTGTCTTCTTTTTAATATATAAAAGTTATATTTAAAA
AGTATATAACATACTATATATGTTACATACTAACATATATATACACAACAGAAAGTTTATTGGA
TTTAGTACTGATATTTACTGTCTATTTTTGTTACTTTGTTCTTAGTAATCTATTATAGTTACCT
ATTTTAAGGTAAGGTCTGTAGGCAAGATATGTAAGTAAAGACAAGCCCTACAATTTTAAAATAA
CAAAGCTTATGTCTTAAGTTGTATTTTTTCAAAGGTTCATGTTTTTCTGAGTAAATGTGGTTTA
TTAGCATGAAATATTATGCCTTTTACTTAAATTATTTTATGTAAAATAGGGCACTGTTTAATTA
TGAAAGGGGGAAAATCATTCCAAATAAGAGTTTAATTTTTATTAATTATAAAAAACTCTGTATT
AGTTTCCTAGATGTGCTAGAACAAATTACCACAAACTGGGTGGCTTTAAACAACAGAAATTTAT
TCTCTTAACAGTTCCAGAGACTAAATGTCCAGACTCACAATGTCCCAGTGCCATGCTTCCTCCT
TAGGCCCTAGGAAAGAATACTTCCTAGCCTCTTCCTGGCTTTTGGTGGTTGCCAGCAATCCCTG
CTGTTCCTTAGCCTATAGTGGCTTGACTCCAATCTCAGTTTTGTTGTCAAGTGGTCTTCTACCC
TGTCTTCTATGTTTGTATCCGTGTCCAAACTCTTTTTCTAGGGAGACCAGCACTGGATTAGAGT
TCACCATGATCCAATATGACCTCATCTTGACTACATCCGCAAAGACCCTGTCTCCAAATAAGGT
CACATTTACAGGGTACCATGTGTTAGGATTTGACATATCTTTTGGGGGACACAATTCTACCCAC
TACAGGCCCATATCTTATCTAGGATGTTGGTGGCAAGAAGGTGAAGATTACTACCTCTTTTGAT
ATAACTAGTTTCTGAGGTATTTAAAAATTTGGTTTTAAAAATATTAAGCTTTTTGCTCATTTGC
ATGTATACTTTTCTCTCAACATTGTTTTGGTTTATTTAGGTTATTTGTTAAAACTTCAGTAAAT
ACTAAAGTTACTTGTATTAGAACATAATAAAAGTAGAGAATTAAACTACCTAAATAAATGCATC
AAAAAA

hide sequence

RefSeq Acc Id:

NM_152292 ⟹ NP_689505

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,563,723 (-)	NCBI
GRCh37	4	100,467,864 - 100,485,189 (-)	RGD
Build 36	4	100,686,904 - 100,703,848 (-)	NCBI Archive
Celera	4	97,765,280 - 97,782,608 (-)	RGD
HuRef	4	96,205,953 - 96,223,232 (-)	RGD
CHM1_1	4	100,444,338 - 100,461,298 (-)	NCBI
T2T-CHM13v2.0	4	102,861,479 - 102,878,492 (-)	NCBI

Sequence:

show sequence

CTACCCAGCTGCTCCCTGGTTCGCCAGAGACAGCTTAATCCCGTCTCTGAAATGCGTTTGCTGG
CTGGGAGCCTAGAAGGGATAGTGGGCGAGGCTCCGCCCCGTGGTGGGGCGCTTTCCGTCGGCGT
GTGTTTTGGGGTTGCCATCGGCCCGTAGTATGTGAAAAGTGAGTTTGCAAAGAATCAGTGGGAA
ATCTGTACTCTAAAGGGCCGGAAAGCGTGTTATGGCCCTGCCACTTCGTGGCTAGAGACCGTGG
GCTTTACCTCTTTAAAGCTGCCTTACCTCATTTTTCCTGCAAAGGGCTGACGTCGCTGAACTCT
CTGAAATGTAGAGAGCCCGAGGGGAAGTTGCTGCAGAGGCACCAAATAATGTCATCTGAAATGT
TGCCAGCATTTATTGAAACTTCTAATGTTGACAAAAAGCAAGGCATAAATGAAGATCAAGAGGA
GAGCCAGAAGCCAAGATTAGGTGAAGGGTGTGAACCAATATCTAAACGACAAATGAAAAAACTA
ATAAAACAGAAACAATGGGAAGAGCAACGGGAACTCCGCAAACAAAAGCGAAAAGAAAAACGCA
AGAGGAAAAAATTAGAGCGACAATGTCAAATGGAACCAAACTCAGATGGACATGACAGAAAACG
TGTTCGAAGAGATGTTGTTCATAGCACCCTTCGCCTTATTATTGACTGTAGTTTTGATCACTTG
ATGGTATTAAAGGACATTAAGAAACTTCATAAGCAGATTCAACGATGTTACGCAGAAAACCGAC
GGGCACTGCATCCTGTGCAGTTTTACTTGACAAGCCACGGAGGCCAGCTGAAAAAGAACATGGA
TGAAAATGACAAAGGATGGGTCAACTGGAAGGATATCCATATCAAACCAGAGCACTATAGTGAA
CTCATAAAGAAAGAAGACCTGATTTACCTTACGTCAGATTCACCTAATATACTGAAGGAATTAG
ATGAATCAAAGGCCTATGTGATTGGAGGATTAGTAGATCACAACCATCACAAGGGACTCACATA
TAAACAAGCGTCAGATTATGGAATCAATCATGCACAGCTCCCACTTGGAAATTTTGTGAAGATG
AATAGTCGAAAAGTTTTGGCAGTTAATCATGTGTTTGAAATTATTCTGGAATACCTGGAAACAA
GAGACTGGCAAGAAGCATTTTTTACTATCTTGCCCCAACGGAAAGGAGCTGTTCCCACAGACAA
AGCCTGTGAAAGTGCTTCTCATGACAATCAGTCTGTCAGGATGGAGGAAGGTGGATCGGACAGT
GATTCCAGTGAGGAGGAATATAGCAGAAATGAACTAGATTCACCACATGAAGAAAAGCAGGATA
AGGAAAATCACACTGAATCTACAGTGAACTCTCTGCCACACTAATGTTACCTGGTTTCCTTTTA
GTTTAAGGAAAAATTAGGAGAAAGTGAGGTGCTATATAGAATATTGAAATTGGAAGAACATTTT
ATTTTCTCTTATTTCTGTTGTGATTTTTAAAAACTTTTTTTTGGACCTAAATAATAATAAAAAA
AAAAGCCCTTTAAACTTTGTAAGGAAATATTTTTTGATTTTGCGTAAGAAGATTTAAATGTGTA
TGTGATTTTTTTTGTTTTTGTTTTTAAAGCCTCAGTAGTTTCTAGATAATTTTACTGTATTAGT
ATATTTTCATTTTCTTTCATTTTATATTCTTTAGAATGTGCCTTCTGACCTTTCAGTTTTTTAA
TTTTATAGTCACATCAACATCTTTATGATCTATTGCCTATATATCTGTGAGGGCACATATTCAT
AAATATACTGTCAATCTATCAGCATTTGTGTATGGTAGGTTACCCTCTATTTGCAGCTTTTATG
TTTAAATTAGTTACTTGAAAGAATGTAGTAATTTTAGGAAGAAGTATCAGTTTGATAGACTTAA
TAATTCATTTCTTTTGGACTATGGAGCGCATATCTGTTCCTTCTTTATGATGCCTTTTTATGGT
TCTGAAGTAATTACTGAAGAGTTGAGAATCTCTTTAATGCATTTTCTTAATTCTTACAATGGTG
ATAAGTTACTTCAATTATAAAATTGAATTTTGCAGACTAAATTATTTTATAAGGCTGTTGCTAT
TGAAAGATCAATTTTGTCTTTACCTGCATTTAAAATGGAACAGCTCTTAGCAGCTGTGGTTTTT
TTTTCCATATTTTTTTTAAATTTGTTGGCTCTTAAGATGAATAAAGTTTATAGGTGCATCTGCC
TCCTCTTCTCTAAGAATATGCATACTAATGTTTGTTTCTATAAATCAAATACACATGTGATAAT
ATGCATGTAAATACATAACTATCCTCATCATGTATGGCTCTCAGTTCTTAATTGATGATAACAT
GATTGAATTGCCATATATCTGTATTACTTGTGTGAATGGTTGTGTTGAACACGCTAAGAACAAT
TTGAATTTTATTAAGTACAAAAATCCTTAACGTTTGTATGGGAACATTGGCAAGAAAGAATAGT
GTGAAAGGGAACTGTTTTAGTTTCCTATCAGTAATTGTACATGCAGTTAAATGTTTAAGGTAAA
ATGATTGGTCTCTGTCACAGCTAAAAGATTTCAGTAGCCTTCATTGAGTTTGGGTAAAATAAGT
TGCTGTTCTTTTGTCTTCTTTTTAATATATAAAAGTTATATTTAAAAAGTATATAACATACTAT
ATATGTTACATACTAACATATATATACACAACAGAAAGTTTATTGGATTTAGTACTGATATTTA
CTGTCTATTTTTGTTACTTTGTTCTTAGTAATCTATTATAGTTACCTATTTTAAGGTAAGGTCT
GTAGGCAAGATATGTAAGTAAAGACAAGCCCTACAATTTTAAAATAACAAAGCTTATGTCTTAA
GTTGTATTTTTTCAAAGGTTCATGTTTTTCTGAGTAAATGTGGTTTATTAGCATGAAATATTAT
GCCTTTTACTTAAATTATTTTATGTAAAATAGGGCACTGTTTAATTATGAAAGGGGGAAAATCA
TTCCAAATAAGAGTTTAATTTTTATTAATTATAAAAAACTCTGTATTAGTTTCCTAGATGTGCT
AGAACAAATTACCACAAACTGGGTGGCTTTAAACAACAGAAATTTATTCTCTTAACAGTTCCAG
AGACTAAATGTCCAGACTCACAATGTCCCAGTGCCATGCTTCCTCCTTAGGCCCTAGGAAAGAA
TACTTCCTAGCCTCTTCCTGGCTTTTGGTGGTTGCCAGCAATCCCTGCTGTTCCTTAGCCTATA
GTGGCTTGACTCCAATCTCAGTTTTGTTGTCAAGTGGTCTTCTACCCTGTCTTCTATGTTTGTA
TCCGTGTCCAAACTCTTTTTCTAGGGAGACCAGCACTGGATTAGAGTTCACCATGATCCAATAT
GACCTCATCTTGACTACATCCGCAAAGACCCTGTCTCCAAATAAGGTCACATTTACAGGGTACC
ATGTGTTAGGATTTGACATATCTTTTGGGGGACACAATTCTACCCACTACAGGCCCATATCTTA
TCTAGGATGTTGGTGGCAAGAAGGTGAAGATTACTACCTCTTTTGATATAACTAGTTTCTGAGG
TATTTAAAAATTTGGTTTTAAAAATATTAAGCTTTTTGCTCATTTGCATGTATACTTTTCTCTC
AACATTGTTTTGGTTTATTTAGGTTATTTGTTAAAACTTCAGTAAATACTAAAGTTACTTGTAT
TAGAACATAATAAAAGTAGAGAATTAAACTACCTAAATAAATGCATCAAAAAA

hide sequence

RefSeq Acc Id:

XM_047416418 ⟹ XP_047272374

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,546,711 - 99,563,723 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001128137	(Get FASTA)	NCBI Sequence Viewer
	NP_001128138	(Get FASTA)	NCBI Sequence Viewer
	NP_001362809	(Get FASTA)	NCBI Sequence Viewer
	NP_001362810	(Get FASTA)	NCBI Sequence Viewer
	NP_001362811	(Get FASTA)	NCBI Sequence Viewer
	NP_689505	(Get FASTA)	NCBI Sequence Viewer
	XP_047272374	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD21019	(Get FASTA)	NCBI Sequence Viewer
	AAH28373	(Get FASTA)	NCBI Sequence Viewer
	ACF94495	(Get FASTA)	NCBI Sequence Viewer
	BAG36324	(Get FASTA)	NCBI Sequence Viewer
	EAX06104	(Get FASTA)	NCBI Sequence Viewer
	EAX06105	(Get FASTA)	NCBI Sequence Viewer
	Q8TBZ6	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001128137 ⟸ NM_001134665
- Peptide Label:	isoform 1
- UniProtKB:	Q8TBZ6 (UniProtKB/Swiss-Prot), V9HVY8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQMKKLIKQKQWEEQRELRKQK RKEKRKRKKLERQCQMEPNSDGHDRKRVRRDVVHSTLRLIIDCSFDHLMVLKDIKKLHKQIQRC YAENRRALHPVQFYLTSHGGQLKKNMDENDKGWVNWKDIHIKPEHYSELIKKEDLIYLTSDSPN ILKELDESKAYVIGGLVDHNHHKGLTYKQASDYGINHAQLPLGNFVKMNSRKVLAVNHVFEIIL EYLETRDWQEAFFTILPQRKGAVPTDKACESASHDNQSVRMEEGGSDSDSSEEEYSRNELDSPH EEKQDKENHTESTVNSLPH hide sequence

RefSeq Acc Id:	NP_001128138 ⟸ NM_001134666
- Peptide Label:	isoform 1
- UniProtKB:	Q8TBZ6 (UniProtKB/Swiss-Prot), V9HVY8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQMKKLIKQKQWEEQRELRKQK RKEKRKRKKLERQCQMEPNSDGHDRKRVRRDVVHSTLRLIIDCSFDHLMVLKDIKKLHKQIQRC YAENRRALHPVQFYLTSHGGQLKKNMDENDKGWVNWKDIHIKPEHYSELIKKEDLIYLTSDSPN ILKELDESKAYVIGGLVDHNHHKGLTYKQASDYGINHAQLPLGNFVKMNSRKVLAVNHVFEIIL EYLETRDWQEAFFTILPQRKGAVPTDKACESASHDNQSVRMEEGGSDSDSSEEEYSRNELDSPH EEKQDKENHTESTVNSLPH hide sequence

RefSeq Acc Id:	NP_689505 ⟸ NM_152292
- Peptide Label:	isoform 1
- UniProtKB:	Q8TBZ6 (UniProtKB/Swiss-Prot), V9HVY8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQMKKLIKQKQWEEQRELRKQK RKEKRKRKKLERQCQMEPNSDGHDRKRVRRDVVHSTLRLIIDCSFDHLMVLKDIKKLHKQIQRC YAENRRALHPVQFYLTSHGGQLKKNMDENDKGWVNWKDIHIKPEHYSELIKKEDLIYLTSDSPN ILKELDESKAYVIGGLVDHNHHKGLTYKQASDYGINHAQLPLGNFVKMNSRKVLAVNHVFEIIL EYLETRDWQEAFFTILPQRKGAVPTDKACESASHDNQSVRMEEGGSDSDSSEEEYSRNELDSPH EEKQDKENHTESTVNSLPH hide sequence

RefSeq Acc Id:	NP_001362811 ⟸ NM_001375882
- Peptide Label:	isoform 2

RefSeq Acc Id:	NP_001362810 ⟸ NM_001375881
- Peptide Label:	isoform 1

RefSeq Acc Id:	NP_001362809 ⟸ NM_001375880
- Peptide Label:	isoform 1

RefSeq Acc Id:

ENSP00000397551 ⟸ ENST00000455368

RefSeq Acc Id:

ENSP00000273962 ⟸ ENST00000273962

RefSeq Acc Id:

ENSP00000378343 ⟸ ENST00000394877

RefSeq Acc Id:

ENSP00000378342 ⟸ ENST00000394876

RefSeq Acc Id:

ENSP00000423628 ⟸ ENST00000514547

RefSeq Acc Id:	XP_047272374 ⟸ XM_047416418
- Peptide Label:	isoform X1

Protein Domains

SAM-dependent MTase TRM10-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TBZ6-F1-model_v2	AlphaFold	Q8TBZ6	1-339	view protein structure

Promoters

RGD ID:

6868104

Promoter ID:

EPDNEW_H7217

Type:

initiation region

Name:

TRMT10A_1

Description:

tRNA methyltransferase 10A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7218

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,563,723 - 99,563,783	EPDNEW

RGD ID:

6868106

Promoter ID:

EPDNEW_H7218

Type:

initiation region

Name:

TRMT10A_2

Description:

tRNA methyltransferase 10A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7217

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	99,564,019 - 99,564,079	EPDNEW

RGD ID:

6802500

Promoter ID:

HG_KWN:48796

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000394876, ENST00000394877, NM_000253, NM_001134665, NM_152292

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	100,703,746 - 100,704,477 (+)	MPROMDB

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q23(chr4:97972342-100038125)x3	copy number gain	See cases [RCV000051632]	Chr4:97972342..100038125 [GRCh38] Chr4:98893493..100959282 [GRCh37] Chr4:99112516..101178305 [NCBI36] Chr4:4q23	uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|See cases [RCV000051775]	Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3	pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	copy number gain	See cases [RCV000051776]	Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3	pathogenic
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)	single nucleotide variant	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV000144247]	Chr4:99557386 [GRCh38] Chr4:100478543 [GRCh37] Chr4:4q23	pathogenic\|likely pathogenic
NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg)	single nucleotide variant	Inborn genetic diseases [RCV000624590]\|Microcephaly, short stature, and impaired glucose metabolism 1 [RCV000144248]	Chr4:99553814 [GRCh38] Chr4:100474971 [GRCh37] Chr4:4q23	pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	copy number loss	See cases [RCV000137269]	Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24	pathogenic
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	copy number loss	See cases [RCV000140412]	Chr4:92610413..101521991 [GRCh38] Chr4:93531564..102443148 [GRCh37] Chr4:93750587..102662171 [NCBI36] Chr4:4q22.1-24	pathogenic
NM_001134665.3(TRMT10A):c.679A>C (p.Ile227Leu)	single nucleotide variant	not provided [RCV001760765]	Chr4:99550957 [GRCh38] Chr4:100472114 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.79G>T (p.Glu27Ter)	single nucleotide variant	not provided [RCV000728879]	Chr4:99559260 [GRCh38] Chr4:100480417 [GRCh37] Chr4:4q23	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1	copy number loss	See cases [RCV000445741]	Chr4:85805268..103678797 [GRCh37] Chr4:4q21.23-24	pathogenic
NM_001134665.3(TRMT10A):c.206G>A (p.Arg69His)	single nucleotide variant	not provided [RCV000889564]\|not specified [RCV000503318]	Chr4:99558191 [GRCh38] Chr4:100479348 [GRCh37] Chr4:4q23	benign
NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr)	single nucleotide variant	not provided [RCV000911862]\|not specified [RCV000501506]	Chr4:99549153 [GRCh38] Chr4:100470310 [GRCh37] Chr4:4q23	likely benign\|uncertain significance
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)	single nucleotide variant	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV000764520]\|not provided [RCV001410599]\|not specified [RCV000501846]	Chr4:99557367 [GRCh38] Chr4:100478524 [GRCh37] Chr4:4q23	likely benign\|uncertain significance
NM_001134665.3(TRMT10A):c.866_868del (p.Ser289_His290delinsTyr)	deletion	not specified [RCV000503599]	Chr4:99549240..99549242 [GRCh38] Chr4:100470397..100470399 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.837T>A (p.Val279=)	single nucleotide variant	not specified [RCV000500403]	Chr4:99549271 [GRCh38] Chr4:100470428 [GRCh37] Chr4:4q23	likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	copy number loss	See cases [RCV000511194]	Chr4:92201567..103043808 [GRCh37] Chr4:4q22.1-24	pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	copy number gain	See cases [RCV000510970]	Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001134665.3(TRMT10A):c.172C>A (p.Arg58=)	single nucleotide variant	not provided [RCV000880431]	Chr4:99559167 [GRCh38] Chr4:100480324 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val)	single nucleotide variant	not provided [RCV000893907]\|not specified [RCV001818692]	Chr4:99550971 [GRCh38] Chr4:100472128 [GRCh37] Chr4:4q23	likely benign\|uncertain significance
NM_001134665.3(TRMT10A):c.888G>A (p.Arg296=)	single nucleotide variant	not provided [RCV000980093]	Chr4:99549220 [GRCh38] Chr4:100470377 [GRCh37] Chr4:4q23	likely benign
GRCh37/hg19 4q23(chr4:100239111-100509321)x3	copy number gain	not provided [RCV000847681]	Chr4:100239111..100509321 [GRCh37] Chr4:4q23	uncertain significance
GRCh37/hg19 4q23(chr4:100224894-100482676)x3	copy number gain	not provided [RCV000849380]	Chr4:100224894..100482676 [GRCh37] Chr4:4q23	uncertain significance
GRCh37/hg19 4q23(chr4:100224894-100482676)x3	copy number gain	not provided [RCV000849382]	Chr4:100224894..100482676 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.348G>C (p.Lys116Asn)	single nucleotide variant	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV001264827]	Chr4:99558049 [GRCh38] Chr4:100479206 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter)	indel	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV001251196]	Chr4:99550938..99550939 [GRCh38] Chr4:100472095..100472096 [GRCh37] Chr4:4q23	likely pathogenic
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	copy number loss	not provided [RCV001259285]	Chr4:94692345..101308220 [GRCh37] Chr4:4q22.2-24	likely pathogenic
NM_001134665.3(TRMT10A):c.388G>A (p.Ala130Thr)	single nucleotide variant	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV001330415]	Chr4:99557377 [GRCh38] Chr4:100478534 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.388G>T (p.Ala130Ser)	single nucleotide variant	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV001330416]	Chr4:99557377 [GRCh38] Chr4:100478534 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter)	single nucleotide variant	Abnormality of the nervous system [RCV001814306]	Chr4:99558120 [GRCh38] Chr4:100479277 [GRCh37] Chr4:4q23	pathogenic\|likely pathogenic
NM_001134665.3(TRMT10A):c.186-10C>T	single nucleotide variant	not provided [RCV001522088]	Chr4:99558221 [GRCh38] Chr4:100479378 [GRCh37] Chr4:4q23	benign
NM_001134665.3(TRMT10A):c.465T>A (p.Asp155Glu)	single nucleotide variant	not specified [RCV001817452]	Chr4:99556176 [GRCh38] Chr4:100477333 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.23dup (p.Phe9fs)	duplication	Microcephaly, short stature, and impaired glucose metabolism 1 [RCV001806433]	Chr4:99559315..99559316 [GRCh38] Chr4:100480472..100480473 [GRCh37] Chr4:4q23	pathogenic
NM_001134665.3(TRMT10A):c.149A>T (p.Lys50Ile)	single nucleotide variant	not provided [RCV001869652]\|not specified [RCV001822191]	Chr4:99559190 [GRCh38] Chr4:100480347 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.934A>G (p.Ser312Gly)	single nucleotide variant	not provided [RCV001869767]\|not specified [RCV001822658]	Chr4:99549174 [GRCh38] Chr4:100470331 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.78G>C (p.Glu26Asp)	single nucleotide variant	not specified [RCV001819549]	Chr4:99559261 [GRCh38] Chr4:100480418 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.854G>A (p.Cys285Tyr)	single nucleotide variant	not specified [RCV001820718]	Chr4:99549254 [GRCh38] Chr4:100470411 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.727C>T (p.Arg243Ter)	single nucleotide variant	not provided [RCV001984789]	Chr4:99550909 [GRCh38] Chr4:100472066 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.337A>G (p.Met113Val)	single nucleotide variant	not provided [RCV001950594]	Chr4:99558060 [GRCh38] Chr4:100479217 [GRCh37] Chr4:4q23	uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
NM_001134665.3(TRMT10A):c.215A>G (p.Lys72Arg)	single nucleotide variant	not provided [RCV001927774]	Chr4:99558182 [GRCh38] Chr4:100479339 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.823C>A (p.Arg275=)	single nucleotide variant	not provided [RCV002005142]	Chr4:99549285 [GRCh38] Chr4:100470442 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.438C>G (p.His146Gln)	single nucleotide variant	not provided [RCV001913604]	Chr4:99556203 [GRCh38] Chr4:100477360 [GRCh37] Chr4:4q23	uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	copy number gain	not provided [RCV001827745]	Chr4:95490755..109977216 [GRCh37] Chr4:4q22.3-25	likely pathogenic
NM_001134665.3(TRMT10A):c.569C>T (p.Ser190Leu)	single nucleotide variant	not provided [RCV001895145]	Chr4:99553861 [GRCh38] Chr4:100475018 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.899G>A (p.Gly300Asp)	single nucleotide variant	not provided [RCV001969715]	Chr4:99549209 [GRCh38] Chr4:100470366 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.193C>T (p.Arg65Ter)	single nucleotide variant	not provided [RCV001941776]	Chr4:99558204 [GRCh38] Chr4:100479361 [GRCh37] Chr4:4q23	pathogenic
NC_000004.11:g.(?_100470245)_(100521910_?)dup	duplication	not provided [RCV001943284]	Chr4:100470245..100521910 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.205C>T (p.Arg69Cys)	single nucleotide variant	not provided [RCV002028075]	Chr4:99558192 [GRCh38] Chr4:100479349 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.495+2T>C	single nucleotide variant	not provided [RCV002046680]	Chr4:99556144 [GRCh38] Chr4:100477301 [GRCh37] Chr4:4q23	likely pathogenic
NM_001134665.3(TRMT10A):c.227G>A (p.Arg76Gln)	single nucleotide variant	not provided [RCV001864768]	Chr4:99558170 [GRCh38] Chr4:100479327 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.206G>T (p.Arg69Leu)	single nucleotide variant	not provided [RCV001952819]	Chr4:99558191 [GRCh38] Chr4:100479348 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.683A>G (p.Asn228Ser)	single nucleotide variant	not provided [RCV001998484]	Chr4:99550953 [GRCh38] Chr4:100472110 [GRCh37] Chr4:4q23	uncertain significance
NC_000004.11:g.(?_100239320)_(100544005_?)dup	duplication	not provided [RCV002018710]	Chr4:100239320..100544005 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.305G>A (p.Arg102His)	single nucleotide variant	not provided [RCV001996793]	Chr4:99558092 [GRCh38] Chr4:100479249 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.380G>A (p.Arg127Gln)	single nucleotide variant	not provided [RCV001989942]	Chr4:99557385 [GRCh38] Chr4:100478542 [GRCh37] Chr4:4q23	uncertain significance
NM_001134665.3(TRMT10A):c.349-18A>T	single nucleotide variant	not provided [RCV002085782]	Chr4:99557434 [GRCh38] Chr4:100478591 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.349-17dup	duplication	not provided [RCV002168754]	Chr4:99557432..99557433 [GRCh38] Chr4:100478589..100478590 [GRCh37] Chr4:4q23	benign
NM_001134665.3(TRMT10A):c.366T>C (p.His122=)	single nucleotide variant	not provided [RCV002075856]	Chr4:99557399 [GRCh38] Chr4:100478556 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.438C>T (p.His146=)	single nucleotide variant	not provided [RCV002091000]	Chr4:99556203 [GRCh38] Chr4:100477360 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.159A>G (p.Gln53=)	single nucleotide variant	not provided [RCV002112953]	Chr4:99559180 [GRCh38] Chr4:100480337 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.752-20G>A	single nucleotide variant	not provided [RCV002212462]	Chr4:99549376 [GRCh38] Chr4:100470533 [GRCh37] Chr4:4q23	benign
NM_001134665.3(TRMT10A):c.45T>C (p.Val15=)	single nucleotide variant	not provided [RCV002074785]	Chr4:99559294 [GRCh38] Chr4:100480451 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.561G>A (p.Thr187=)	single nucleotide variant	not provided [RCV002151892]	Chr4:99553869 [GRCh38] Chr4:100475026 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.696C>A (p.Leu232=)	single nucleotide variant	not provided [RCV002142694]	Chr4:99550940 [GRCh38] Chr4:100472097 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.978G>A (p.Lys326=)	single nucleotide variant	not provided [RCV002199463]	Chr4:99549130 [GRCh38] Chr4:100470287 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.495+11_495+54del	deletion	not provided [RCV002143515]	Chr4:99556092..99556135 [GRCh38] Chr4:100477249..100477292 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.273T>G (p.Arg91=)	single nucleotide variant	not provided [RCV002162277]	Chr4:99558124 [GRCh38] Chr4:100479281 [GRCh37] Chr4:4q23	likely benign
NM_001134665.3(TRMT10A):c.408G>A (p.Leu136=)	single nucleotide variant	not provided [RCV002199630]	Chr4:99557357 [GRCh38] Chr4:100478514 [GRCh37] Chr4:4q23	likely benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28403	AgrOrtholog
COSMIC	TRMT10A	COSMIC
Ensembl Genes	ENSG00000145331	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000273962	ENTREZGENE
	ENSP00000273962.3	UniProtKB/Swiss-Prot
	ENSP00000378342	ENTREZGENE
	ENSP00000378342.2	UniProtKB/Swiss-Prot
	ENSP00000378343	ENTREZGENE
	ENSP00000378343.3	UniProtKB/Swiss-Prot
	ENSP00000397551.2	UniProtKB/TrEMBL
	ENSP00000423628.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000273962	ENTREZGENE
	ENST00000273962.7	UniProtKB/Swiss-Prot
	ENST00000394876	ENTREZGENE
	ENST00000394876.7	UniProtKB/Swiss-Prot
	ENST00000394877	ENTREZGENE
	ENST00000394877.7	UniProtKB/Swiss-Prot
	ENST00000455368.6	UniProtKB/TrEMBL
	ENST00000514547.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.1280.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000145331	GTEx
HGNC ID	HGNC:28403	ENTREZGENE
Human Proteome Map	TRMT10A	Human Proteome Map
InterPro	MT_TRM10-typ	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MT_TRM10-typ_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRM10/TRM10A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA_m1G_MeTrfase_euk	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA_MeTrfase_TRMD/TRM10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:93587	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	93587	ENTREZGENE
OMIM	616013	OMIM
	616033	OMIM
PANTHER	PTHR13563	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR13563:SF13	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	tRNA_m1G_MT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134979919	PharmGKB
PIRSF	tRNA_m1G_mtfrase_met	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	SAM_MT_TRM10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	D6R954_HUMAN	UniProtKB/TrEMBL
	Q8TBZ6	ENTREZGENE, UniProtKB/Swiss-Prot
	V9HVY8	ENTREZGENE, UniProtKB/TrEMBL
	X6REK4_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A0A024RDJ9	UniProtKB/TrEMBL
	B2R8X7	UniProtKB/Swiss-Prot
	Q9Y2T9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-09-29	TRMT10A	tRNA methyltransferase 10A		tRNA methyltransferase 10 homolog A (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED
2012-07-05	TRMT10A	tRNA methyltransferase 10 homolog A (S. cerevisiae)	RG9MTD2	RNA (guanine-9-) methyltransferase domain containing 2	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM