NTMT1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)

Gene: NTMT1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1) Homo sapiens

Analyze

Symbol:

NTMT1

Name:

N-terminal Xaa-Pro-Lys N-methyltransferase 1

RGD ID:

1606300

HGNC Page

HGNC:23373

Description:

Enables N-terminal protein N-methyltransferase activity and histone methyltransferase activity. Involved in chromosome segregation and spindle organization. Located in cytosol and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

AD-003; alpha N-terminal protein methyltransferase 1A; C9orf32; HOMT1A; methyltransferase like 11A; methyltransferase-like protein 11A; METTL11A; N-terminal RCC1 methyltransferase; NRMT; NRMT1; NTM1A; X-Pro-Lys N-terminal protein methyltransferase 1A

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):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NTMT1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	NTMT1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	NCBI	Ortholog
Sus scrofa (pig):	NTMT1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, Panther, Treefam
Chlorocebus sabaeus (green monkey):	NTMT1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ntmt1 (N-terminal Xaa-Pro-Lys N-methyltransferase 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	homt-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Ntmt	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	TAE1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	ntmt1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ntmt1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ntmt1	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	9	129,608,872 - 129,636,135 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	129,608,884 - 129,636,135 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	132,371,151 - 132,398,414 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	131,428,256 - 131,437,700 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	103,039,246 - 103,048,694 (+)	NCBI		Celera
Cytogenetic Map	9	q34.11	NCBI
HuRef	9	101,987,502 - 101,996,950 (+)	NCBI		HuRef
CHM1_1	9	132,537,169 - 132,546,616 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	141,813,472 - 141,840,743 (+)	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

genetic disease (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

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

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

butanal (EXP)

cadmium dichloride (EXP)

cisplatin (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

doxorubicin (EXP)

endosulfan (ISO)

enzyme inhibitor (EXP)

flutamide (ISO)

folic acid (ISO)

gentamycin (ISO)

ivermectin (EXP)

methapyrilene (ISO)

mono(2-ethylhexyl) phthalate (EXP)

nickel atom (EXP)

ozone (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

phorone (ISO)

resveratrol (ISO)

SB 431542 (EXP)

silicon dioxide (ISO)

sodium arsenite (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

triptonide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin remodeling (IEA)

chromosome segregation (IMP)

methylation (IEA)

spindle organization (IMP)

Cellular Component

cytoplasm (IBA)

cytosol (IDA)

nucleoplasm (IDA)

nucleus (IDA,IEA)

Molecular Function

histone methyltransferase activity (IDA)

methyltransferase activity (IEA)

N-terminal protein N-methyltransferase activity (IBA,IDA,IEA)

protein binding (IPI)

protein methyltransferase activity (IDA,IEA)

transferase activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10931946	PMID:12107411	PMID:12477932	PMID:15146197	PMID:15164053	PMID:15231747	PMID:15489334	PMID:18029348	PMID:20098747	PMID:20481588	PMID:20668449	PMID:21244100
PMID:21832049	PMID:21873635	PMID:22041458	PMID:22769851	PMID:22939629	PMID:24090352	PMID:24753253	PMID:25771539	PMID:25843235	PMID:26186194	PMID:26344197	PMID:26496610
PMID:26543159	PMID:26777405	PMID:26841866	PMID:28266506	PMID:28514442	PMID:28556566	PMID:29459360	PMID:29676528	PMID:30021884	PMID:30151928	PMID:31024071	PMID:31586073
PMID:31980649	PMID:32296183	PMID:32605369	PMID:32687490	PMID:32989298	PMID:33561748	PMID:33961781	PMID:34450313	PMID:34711807	PMID:35013556	PMID:35256949	PMID:35271311
PMID:35439318	PMID:35831314	PMID:35944360	PMID:36114006	PMID:36215168	PMID:36282215	PMID:37827155	PMID:38014887

Genomics

Comparative Map Data

NTMT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	129,608,872 - 129,636,135 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	129,608,884 - 129,636,135 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	132,371,151 - 132,398,414 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	131,428,256 - 131,437,700 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	103,039,246 - 103,048,694 (+)	NCBI		Celera
Cytogenetic Map	9	q34.11	NCBI
HuRef	9	101,987,502 - 101,996,950 (+)	NCBI		HuRef
CHM1_1	9	132,537,169 - 132,546,616 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	141,813,472 - 141,840,743 (+)	NCBI		T2T-CHM13v2.0

Ntmt1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	30,697,576 - 30,713,045 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	30,697,838 - 30,713,045 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	30,807,945 - 30,823,033 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	30,807,826 - 30,823,033 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	30,663,497 - 30,678,534 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	30,629,986 - 30,645,023 (+)	NCBI		MGSCv36	mm8
Celera	2	30,512,087 - 30,527,181 (+)	NCBI		Celera
Cytogenetic Map	2	B	NCBI
cM Map	2	21.74	NCBI

Ntmt1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	34,490,972 - 34,508,316 (+)	NCBI		GRCr8
mRatBN7.2	3	14,093,374 - 14,110,565 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	14,093,977 - 14,110,663 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	17,166,347 - 17,182,937 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	25,751,337 - 25,767,927 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	23,998,688 - 24,015,284 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	9,642,748 - 9,659,633 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	9,643,047 - 9,659,630 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	15,001,767 - 15,019,007 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	9,860,524 - 9,877,109 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	9,755,909 - 9,769,836 (+)	NCBI
Celera	3	8,854,298 - 8,870,883 (+)	NCBI		Celera
Cytogenetic Map	3	p12	NCBI

Ntmt1
(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_004955570	1,744,716 - 1,747,813 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955570	1,730,407 - 1,747,813 (+)	NCBI	ChiLan1.0	ChiLan1.0

NTMT1
(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	11	9,714,603 - 9,770,113 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	9,716,947 - 9,726,387 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	100,752,741 - 100,762,164 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	129,410,036 - 129,419,471 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	129,410,048 - 129,420,092 (+)	Ensembl	panpan1.1		panPan2

NTMT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	54,163,708 - 54,172,906 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	54,164,098 - 54,172,688 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	53,359,638 - 53,368,822 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	55,059,207 - 55,068,384 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	55,059,591 - 55,068,164 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	53,837,720 - 53,846,916 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	54,157,772 - 54,166,939 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	54,251,180 - 54,260,367 (-)	NCBI		UU_Cfam_GSD_1.0

Ntmt1
(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_024404947	197,119,217 - 197,127,196 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936487	16,888,096 - 16,900,277 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936487	16,887,769 - 16,895,721 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NTMT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	269,819,753 - 269,828,831 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	269,819,774 - 269,828,832 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	303,687,323 - 303,696,421 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NTMT1
(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	12	8,509,770 - 8,519,726 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	8,509,905 - 8,519,894 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666079	6,918,992 - 6,928,915 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ntmt1
(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_004624760	5,704,334 - 5,713,415 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624760	5,704,334 - 5,712,790 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NTMT1
9 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	copy number loss	See cases [RCV000052923]	Chr9:125993583..129682375 [GRCh38] Chr9:128755862..132444654 [GRCh37] Chr9:127795683..131484475 [NCBI36] Chr9:9q33.3-34.11	pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	copy number loss	See cases [RCV000052934]	Chr9:127874581..130421811 [GRCh38] Chr9:130636860..133297198 [GRCh37] Chr9:129676681..132287019 [NCBI36] Chr9:9q34.11	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	copy number gain	See cases [RCV000053779]	Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|See cases [RCV000053776]	Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	copy number gain	See cases [RCV000053777]	Chr9:127919476..130079974 [GRCh38] Chr9:130681755..132842253 [GRCh37] Chr9:129721576..131882074 [NCBI36] Chr9:9q34.11	pathogenic
GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	copy number gain	See cases [RCV000053778]	Chr9:129036400..130578683 [GRCh38] Chr9:131798679..133454070 [GRCh37] Chr9:130838500..132443891 [NCBI36] Chr9:9q34.11	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	copy number gain	See cases [RCV000137775]	Chr9:128839676..130912873 [GRCh38] Chr9:131601955..133788260 [GRCh37] Chr9:130641776..132778081 [NCBI36] Chr9:9q34.11-34.12	uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11(chr9:129311649-129866376)x3	copy number gain	See cases [RCV000138277]	Chr9:129311649..129866376 [GRCh38] Chr9:132073928..132628655 [GRCh37] Chr9:131113749..131668476 [NCBI36] Chr9:9q34.11	likely benign
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	copy number gain	See cases [RCV000447080]	Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3	pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1	copy number loss	See cases [RCV000445837]	Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	copy number loss	not provided [RCV000767561]	Chr9:131670024..134514071 [GRCh37] Chr9:9q34.11-34.13	likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1	copy number loss	not provided [RCV000748671]	Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1	copy number loss	not provided [RCV000748699]	Chr9:131413885..133866894 [GRCh37] Chr9:9q34.11-34.12	benign
GRCh37/hg19 9q34.11(chr9:132339872-132443331)x1	copy number loss	not provided [RCV000748709]	Chr9:132339872..132443331 [GRCh37] Chr9:9q34.11	benign
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3	copy number gain	not provided [RCV000848121]	Chr9:132183626..133431092 [GRCh37] Chr9:9q34.11	uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	copy number gain	not provided [RCV001832977]	Chr9:128523763..132604808 [GRCh37] Chr9:9q33.3-34.11	pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)	copy number loss	not specified [RCV002052848]	Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11	pathogenic
NC_000009.11:g.(?_131857676)_(135942612_?)dup	duplication	not provided [RCV003116730]	Chr9:131857676..135942612 [GRCh37] Chr9:9q34.11-34.2	uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup	duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700]	Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
NM_014064.4(NTMT1):c.305C>T (p.Thr102Ile)	single nucleotide variant	Inborn genetic diseases [RCV002859085]	Chr9:129634196 [GRCh38] Chr9:132396475 [GRCh37] Chr9:9q34.11	uncertain significance
NM_199350.4(C9orf50):c.380C>T (p.Pro127Leu)	single nucleotide variant	Inborn genetic diseases [RCV002752624]	Chr9:129620195 [GRCh38] Chr9:132382474 [GRCh37] Chr9:9q34.11	uncertain significance
NM_014064.4(NTMT1):c.575G>A (p.Arg192Lys)	single nucleotide variant	Inborn genetic diseases [RCV002772499]	Chr9:129635367 [GRCh38] Chr9:132397646 [GRCh37] Chr9:9q34.11	uncertain significance
NM_014064.4(NTMT1):c.136C>T (p.Arg46Trp)	single nucleotide variant	Inborn genetic diseases [RCV002926377]	Chr9:129632839 [GRCh38] Chr9:132395118 [GRCh37] Chr9:9q34.11	uncertain significance
NM_014064.4(NTMT1):c.69C>G (p.Ile23Met)	single nucleotide variant	Inborn genetic diseases [RCV002848699]	Chr9:129632772 [GRCh38] Chr9:132395051 [GRCh37] Chr9:9q34.11	uncertain significance
NM_199350.4(C9orf50):c.926C>T (p.Ala309Val)	single nucleotide variant	Inborn genetic diseases [RCV002787749]	Chr9:129613552 [GRCh38] Chr9:132375831 [GRCh37] Chr9:9q34.11	likely benign
NM_014064.4(NTMT1):c.647A>G (p.His216Arg)	single nucleotide variant	Inborn genetic diseases [RCV002897965]	Chr9:129635439 [GRCh38] Chr9:132397718 [GRCh37] Chr9:9q34.11	uncertain significance
NM_199350.4(C9orf50):c.198C>T (p.Asp66=)	single nucleotide variant	not provided [RCV003425816]	Chr9:129620377 [GRCh38] Chr9:132382656 [GRCh37] Chr9:9q34.11	likely benign
NM_199350.4(C9orf50):c.575A>G (p.Asn192Ser)	single nucleotide variant	not provided [RCV003430288]	Chr9:129619764 [GRCh38] Chr9:132382043 [GRCh37] Chr9:9q34.11	likely benign
GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	copy number loss	not specified [RCV003986823]	Chr9:131815597..134209182 [GRCh37] Chr9:9q34.11-34.13	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2443
Count of miRNA genes:	787
Interacting mature miRNAs:	950
Transcripts:	ENST00000372480, ENST00000372481, ENST00000372483, ENST00000372486, ENST00000459968, ENST00000481189, ENST00000482347, ENST00000486391
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

RH93952

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	132,397,058 - 132,397,187	UniSTS	GRCh37
Build 36	9	131,436,879 - 131,437,008	RGD	NCBI36
Celera	9	103,047,873 - 103,048,002	RGD
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
HuRef	9	101,996,129 - 101,996,258	UniSTS
GeneMap99-GB4 RH Map	9	398.04	UniSTS

SGC32655

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	132,397,729 - 132,397,879	UniSTS	GRCh37
Build 36	9	131,437,550 - 131,437,700	RGD	NCBI36
Celera	9	103,048,544 - 103,048,694	RGD
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,996,800 - 101,996,950	UniSTS
GeneMap99-GB4 RH Map	9	399.76	UniSTS
Whitehead-RH Map	9	477.0	UniSTS
NCBI RH Map	9	1186.6	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

adipose tissue

appendage

entire extraembryonic component

High

Medium

1111

1587

1131

307

1047

234

3382

1570

1732

321

1160

1179

736

2398

Low

1323

1394

592

315

902

231

973

620

1976

289

428

468

390

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001286796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_104596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005251939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017014642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054362801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054362802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054362803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054362804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054362805	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF110776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI802417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL391056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX405694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033234	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE392289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF316784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG468453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI083998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM009113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM554138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ636193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ923165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN406947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY058177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000372480 ⟹ ENSP00000361558

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,444 - 129,635,492 (+)	Ensembl

RefSeq Acc Id:

ENST00000372481 ⟹ ENSP00000361559

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,205 - 129,635,473 (+)	Ensembl

RefSeq Acc Id:

ENST00000372483 ⟹ ENSP00000361561

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,163 - 129,636,135 (+)	Ensembl

RefSeq Acc Id:

ENST00000372486 ⟹ ENSP00000361564

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,608,884 - 129,635,930 (+)	Ensembl

RefSeq Acc Id:

ENST00000459968 ⟹ ENSP00000474445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,200 - 129,633,676 (+)	Ensembl

RefSeq Acc Id:

ENST00000481189 ⟹ ENSP00000473916

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,175 - 129,635,257 (+)	Ensembl

RefSeq Acc Id:

ENST00000482347 ⟹ ENSP00000473900

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,200 - 129,635,930 (+)	Ensembl

RefSeq Acc Id:

ENST00000486391

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,628,517 - 129,635,271 (+)	Ensembl

RefSeq Acc Id:

ENST00000611055 ⟹ ENSP00000483489

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,153 - 129,636,131 (+)	Ensembl

RefSeq Acc Id:

ENST00000613644 ⟹ ENSP00000478521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,620,213 - 129,636,131 (+)	Ensembl

RefSeq Acc Id:

ENST00000617943 ⟹ ENSP00000484447

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,626,153 - 129,636,131 (+)	Ensembl

RefSeq Acc Id:

NM_001286796 ⟹ NP_001273725

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,608,872 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,519,967 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,813,472 - 141,840,743 (+)	NCBI

Sequence:

show sequence

CTGATCCTCCCTGCTCCGAGGTGCCCCATGTGCGGCAGGAAGAAGCAGCCTCCACAGGACTGCG
CTCAGCGGGAGACGGGGCTTCCCCGTGAAGAGGTGCTGAGTGCGAATGCCCACTCCAACACCTG
GTCACTGTGTGATCTTGAGAAAGAGTTGAGCCTCTCTGGGCCCTGGCTTCCCCAACAACCAAAG
GCTGTACAGAGAGCGGCTTAGGAGAGAGCTCCTGTGTGCGCCGCCGAGGGCTCTGCTGGCTCAG
GACATCTGTAGGACCAGTTCCAGCTCCAGTGGGCACCGCCAGCACGCCCAGGAGAGTCGCGGTT
GCTGATCGTGGTGCTTGAGTAGAGCCGTGGTTGGTGACAGCATGACGAGCGAGGTGATAGAAGA
CGAGAAGCAATTCTATTCCAAGGCCAAGACCTACTGGAAACAAATCCCACCCACGGTGGACGGC
ATGCTTGGGGGGTATGGCCACATCTCCAGCATCGACATCAACAGCTCCCGGAAGTTTCTGCAGA
GGTTTTTGAGGGAAGGCCCGAACAAGACAGGAACGTCCTGTGCCCTGGACTGTGGAGCTGGCAT
TGGGAGGATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGGTGGATATGGTCGACATAACG
GAGGACTTCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGGCAAGAGGGTGAGGAACTACT
TCTGTTGTGGGCTCCAGGACTTCACCCCGGAGCCGGACTCTTACGACGTGATCTGGATCCAGTG
GGTGATAGGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTC
CGCCCCAACGGCATCATCGTCATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACG
TGGACAGCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAG
CCTCCTGGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCC
CTGAGATGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCA
GCTGGGCAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCT
GTCTGCCGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGG
TGCTGCTGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTG
GAAGGGGCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGAT
TCCCTGGGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCAC
CCCCAACTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAG
CTGGGCTGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAG
TCCTGCTTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTT
CCCCGTAGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAAT
AAAATGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286797 ⟹ NP_001273726

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,620,213 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,531,205 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,824,812 - 141,840,743 (+)	NCBI

Sequence:

show sequence

GGCCCTGGCTGCCTGGGCGCCGATTCCCGGGACGCGCCGGCCGACAGCAGGGGAGGCGGCAGCA
GGGACCGCAGCAGCCCCCGCTTCCGCACGGCCCGCCGGGTCGCGGAGAGTCGCGGTTGCTGATC
GTGGTGCTTGAGTAGAGCCGTGGTTGGTGACAGCATGACGAGCGAGGTGATAGAAGACGAGAAG
CAATTCTATTCCAAGGCCAAGACCTACTGGAAACAAATCCCACCCACGGTGGACGGCATGCTTG
GGGGGTATGGCCACATCTCCAGCATCGACATCAACAGCTCCCGGAAGTTTCTGCAGAGGTTTTT
GAGGGAAGGCCCGAACAAGACAGGAACGTCCTGTGCCCTGGACTGTGGAGCTGGCATTGGGAGG
ATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGGTGGATATGGTCGACATAACGGAGGACT
TCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGGCAAGAGGGTGAGGAACTACTTCTGTTG
TGGGCTCCAGGACTTCACCCCGGAGCCGGACTCTTACGACGTGATCTGGATCCAGTGGGTGATA
GGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTCCGCCCCA
ACGGCATCATCGTCATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACGTGGACAG
CAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAGCCTCCTG
GCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCCCTGAGAT
GAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCAGCTGGGC
AAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCTGTCTGCC
GTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGGTGCTGCT
GAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTGGAAGGGG
CTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGATTCCCTGG
GCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCACCCCCAAC
TTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAGCTGGGCT
GGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAGTCCTGCT
TGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTTCCCCGTA
GCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAATAAAATGG
GGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286798 ⟹ NP_001273727

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGTGAGTAGCGCGAGGCGGTGCGAAGGGAGAGTCGCGGTTGCTGATCGTGGTGCTTGAGT
AGAGCCGTGGTTGGTGACAGCATGACGAGCGAGGTGATAGAAGACGAGAAGCAATTCTATTCCA
AGGCCAAGACCTACTGGAAACAAATCCCACCCACGGTGGACGGCATGCTTGGGGGGTATGGCCA
CATCTCCAGCATCGACATCAACAGCTCCCGGAAGTTTCTGCAGAGGTTTTTGAGGGAAGGCCCG
AACAAGACAGGAACGTCCTGTGCCCTGGACTGTGGAGCTGGCATTGGGAGGATCACCAAGCGGC
TGCTCCTGCCGCTGTTCAGAGAGGTGGATATGGTCGACATAACGGAGGACTTCCTGGTTCAAGC
CAAGACCTACCTGGGGGAGGAGGGCAAGAGGGTGAGGAACTACTTCTGTTGTGGGCTCCAGGAC
TTCACCCCGGAGCCGGACTCTTACGACGTGATCTGGATCCAGTGGGTGATAGGCCACCTCACCG
ATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTCCGCCCCAACGGCATCATCGT
CATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACGTGGACAGCAGCGTGTGCCGG
GACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAGCCTCCTGGCCGAGGAGAGGC
AGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCCCTGAGATGAGCCGGGGCTGG
CAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCAGCTGGGCAAGATCCAGGCGC
CACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCTGTCTGCCGTCCACTCATTAT
GCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGGTGCTGCTGAACCAGCGGTGA
GGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTGGAAGGGGCTCCAGGGCTCCT
GGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGATTCCCTGGGCCTCCAGCCCGG
CCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCACCCCCAACTTGGTTGCTGGGG
ACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAGCTGGGCTGGTGGAGCCCATG
GGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAGTCCTGCTTGGCAGTGGAGAC
CTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTTCCCCGTAGCCTCAGTCTTCT
CTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAATAAAATGGGGCTGGGCGCGGT
GGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286799 ⟹ NP_001273728

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,444 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,457 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,831,048 - 141,840,743 (+)	NCBI

Sequence:

show sequence

CGCGTCCCCAAGAGGTCTACGGGCCGGACCTGGGCAGGGACTACGGAGCAGTCCATGGGTCGGG
GTACAGGAGGAAAGTCAAGGCACTCAAAGCCCAGGAGAGTCGCGGTTGCTGATCGTGGTGCTTG
AGTAGAGCCGTGGTTGGTGACAGCATGACGAGCGAGGTGATAGAAGACGAGAAGCAATTCTATT
CCAAGGCCAAGACCTACTGGAAACAAATCCCACCCACGGTGGACGGCATGCTTGGGGGGTATGG
CCACATCTCCAGCATCGACATCAACAGCTCCCGGAAGTTTCTGCAGAGGTTTTTGAGGGAAGGC
CCGAACAAGACAGGAACGTCCTGTGCCCTGGACTGTGGAGCTGGCATTGGGAGGATCACCAAGC
GGCTGCTCCTGCCGCTGTTCAGAGAGGTGGATATGGTCGACATAACGGAGGACTTCCTGGTTCA
AGCCAAGACCTACCTGGGGGAGGAGGGCAAGAGGGTGAGGAACTACTTCTGTTGTGGGCTCCAG
GACTTCACCCCGGAGCCGGACTCTTACGACGTGATCTGGATCCAGTGGGTGATAGGCCACCTCA
CCGATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTCCGCCCCAACGGCATCAT
CGTCATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACGTGGACAGCAGCGTGTGC
CGGGACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAGCCTCCTGGCCGAGGAGA
GGCAGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCCCTGAGATGAGCCGGGGC
TGGCAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCAGCTGGGCAAGATCCAGG
CGCCACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCTGTCTGCCGTCCACTCAT
TATGCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGGTGCTGCTGAACCAGCGG
TGAGGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTGGAAGGGGCTCCAGGGCT
CCTGGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGATTCCCTGGGCCTCCAGCC
CGGCCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCACCCCCAACTTGGTTGCTG
GGGACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAGCTGGGCTGGTGGAGCCC
ATGGGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAGTCCTGCTTGGCAGTGGA
GACCTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTTCCCCGTAGCCTCAGTCT
TCTCTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAATAAAATGGGGCTGGGCGC
GGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286800 ⟹ NP_001273729

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGAGAGTCGCGGTTGCTGATCGTGGTGCTTGAGTAGAGCCGTGGTTGGTGACAGCATGAC
GAGCGAGGTGATAGAAGACGAGAAGCAATTCTATTCCAAGGCCAAGACCTACTGGAAACAAATC
CCACCCACGGTGGACGGCATGCTTGGGGGGTATGGCCACATCTCCAGCATCGACATCAACAGCT
CCCGGAAGTTTCTGCAGAGGTTTTTGAGGGAAGGCCCGAACAAGACAGGAACGTCCTGTGCCCT
GGACTGTGGAGCTGGCATTGGGAGGATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGGTG
GATATGGTCGACATAACGGAGGACTTCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGGCA
AGAGGGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTCCGC
CCCAACGGCATCATCGTCATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACGTGG
ACAGCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAGCCT
CCTGGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCCCTG
AGATGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCAGCT
GGGCAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCTGTC
TGCCGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGGTGC
TGCTGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTGGAA
GGGGCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGATTCC
CTGGGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCACCCC
CAACTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAGCTG
GGCTGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAGTCC
TGCTTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTTCCC
CGTAGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAATAAA
ATGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286801 ⟹ NP_001273730

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGTGAGTAGCGCGAGGCGGTGCGAAGGGAGAGTCGCGGTTGCTGATCGTGGTGCTTGAGT
AGAGCCGTGGTTGGTGACAGCATGACGAGCGAGGTGATAGAAGACGAGAAGCAATTCTATTCCA
AGGCCAAGACCTACTGGAAACAAATCCCACCCACGGTGGACGGCATGCTTGGGGGGTATGGCCA
CATCTCCAGCATCGACATCAACAGCTCCCGGAAGTTTCTGCAGAGGTTTTTGAGGGAAGGCCCG
AACAAGACAGGAACGTCCTGTGCCCTGGACTGTGGAGCTGGCATTGGGAGGATCACCAAGCGGC
TGCTCCTGCCGCTGTTCAGAGAGGTGGATATGGTCGACATAACGGAGGACTTCCTGGTTCAAGC
CAAGACCTACCTGGGGGAGGAGGGCAAGAGGGCCACCTCACCGATCAGCACCTGGCCGAGTTCC
TGCGGCGCTGCAAGGGCAGCCTCCGCCCCAACGGCATCATCGTCATCAAAGACAACATGGCCCA
GGAGGGCGTGATTCTGGACGACGTGGACAGCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGG
ATCATCTGCAGTGCAGGCCTCAGCCTCCTGGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGA
TCTACCATGTCTATAGCTTTGCCCTGAGATGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCAC
AGTCCTGGTGGGGGGAGCTGGCAGCTGGGCAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTG
TCGAGGCACCACTAAATATAGCTGTCTGCCGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGC
AAGGTGGGACCCGGCGGGGAGGGTGCTGCTGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCT
CTCCTGCGAGATGGGATTGGGTGGAAGGGGCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATA
GGGTGGCCACATCAGTAACCGATTCCCTGGGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGC
TGCCTGAAGAGGAAGGAAACCACCCCCAACTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGAT
CTTTACCTAGGGGAGGGACAGAGCTGGGCTGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGT
GGGGTGGGTGCTCATGTGCCAAGTCCTGCTTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTAC
AACAGCCTGCAGCAAGGGAAGTTCCCCGTAGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTT
GGCAGGCATTTAAAGTAAAAAATAAAATGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286802 ⟹ NP_001273731

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGTGAGTAGCGCGAGGCGGTGCGAAGGGAAGGCCCGAACAAGACAGGAACGTCCTGTGCC
CTGGACTGTGGAGCTGGCATTGGGAGGATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGG
TGGATATGGTCGACATAACGGAGGACTTCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGG
CAAGAGGGTGAGGAACTACTTCTGTTGTGGGCTCCAGGACTTCACCCCGGAGCCGGACTCTTAC
GACGTGATCTGGATCCAGTGGGTGATAGGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGC
GGCGCTGCAAGGGCAGCCTCCGCCCCAACGGCATCATCGTCATCAAAGACAACATGGCCCAGGA
GGGCGTGATTCTGGACGACGTGGACAGCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATC
ATCTGCAGTGCAGGCCTCAGCCTCCTGGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCT
ACCATGTCTATAGCTTTGCCCTGAGATGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGT
CCTGGTGGGGGGAGCTGGCAGCTGGGCAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCG
AGGCACCACTAAATATAGCTGTCTGCCGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAG
GTGGGACCCGGCGGGGAGGGTGCTGCTGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTC
CTGCGAGATGGGATTGGGTGGAAGGGGCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGG
TGGCCACATCAGTAACCGATTCCCTGGGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGC
CTGAAGAGGAAGGAAACCACCCCCAACTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTT
TACCTAGGGGAGGGACAGAGCTGGGCTGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGG
GTGGGTGCTCATGTGCCAAGTCCTGCTTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAAC
AGCCTGCAGCAAGGGAAGTTCCCCGTAGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGC
AGGCATTTAAAGTAAAAAATAAAATGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_001286803 ⟹ NP_001273732

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGAAGGCCCGAACAAGACAGGAACGTCCTGTGCCCTGGACTGTGGAGCTGGCATTGGGAG
GATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGGTGGATATGGTCGACATAACGGAGGAC
TTCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGGCAAGAGGGTGAGGAACTACTTCTGTT
GTGGGCTCCAGGACTTCACCCCGGAGCCGGACTCTTACGACGTGATCTGGATCCAGTGGGTGAT
AGGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTCCGCCCC
AACGGCATCATCGTCATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACGTGGACA
GCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAGCCTCCT
GGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCCCTGAGA
TGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCAGCTGGG
CAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCTGTCTGC
CGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGGTGCTGC
TGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTGGAAGGG
GCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGATTCCCTG
GGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCACCCCCAA
CTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAGCTGGGC
TGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAGTCCTGC
TTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTTCCCCGT
AGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAATAAAATG
GGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NM_014064 ⟹ NP_054783

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
GRCh37	9	132,371,036 - 132,397,879 (+)	NCBI
Build 36	9	131,428,256 - 131,437,700 (+)	NCBI Archive
Celera	9	103,039,246 - 103,048,694 (+)	RGD
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGAGAGTCGCGGTTGCTGATCGTGGTGCTTGAGTAGAGCCGTGGTTGGTGACAGCATGAC
GAGCGAGGTGATAGAAGACGAGAAGCAATTCTATTCCAAGGCCAAGACCTACTGGAAACAAATC
CCACCCACGGTGGACGGCATGCTTGGGGGGTATGGCCACATCTCCAGCATCGACATCAACAGCT
CCCGGAAGTTTCTGCAGAGGTTTTTGAGGGAAGGCCCGAACAAGACAGGAACGTCCTGTGCCCT
GGACTGTGGAGCTGGCATTGGGAGGATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGGTG
GATATGGTCGACATAACGGAGGACTTCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGGCA
AGAGGGTGAGGAACTACTTCTGTTGTGGGCTCCAGGACTTCACCCCGGAGCCGGACTCTTACGA
CGTGATCTGGATCCAGTGGGTGATAGGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGCGG
CGCTGCAAGGGCAGCCTCCGCCCCAACGGCATCATCGTCATCAAAGACAACATGGCCCAGGAGG
GCGTGATTCTGGACGACGTGGACAGCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATCAT
CTGCAGTGCAGGCCTCAGCCTCCTGGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCTAC
CATGTCTATAGCTTTGCCCTGAGATGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGTCC
TGGTGGGGGGAGCTGGCAGCTGGGCAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCGAG
GCACCACTAAATATAGCTGTCTGCCGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAGGT
GGGACCCGGCGGGGAGGGTGCTGCTGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTCCT
GCGAGATGGGATTGGGTGGAAGGGGCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGGTG
GCCACATCAGTAACCGATTCCCTGGGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGCCT
GAAGAGGAAGGAAACCACCCCCAACTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTTTA
CCTAGGGGAGGGACAGAGCTGGGCTGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGGGT
GGGTGCTCATGTGCCAAGTCCTGCTTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAACAG
CCTGCAGCAAGGGAAGTTCCCCGTAGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGCAG
GCATTTAAAGTAAAAAATAAAATGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

NR_104596

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI
HuRef	9	101,970,345 - 101,997,481 (+)	NCBI
CHM1_1	9	132,537,166 - 132,547,147 (+)	NCBI
T2T-CHM13v2.0	9	141,830,767 - 141,840,743 (+)	NCBI

Sequence:

show sequence

AGCGCGCGCCGCGAGCTGTCGCGTCTGGTCGTGGTCTGGCGGAGCTGCGGTTGGCTTGTGGCGT
CTCCGCCGCCGCCGCCCTCCCTTCCTCTTCCCCATCTTCTTCTCTCGGTCCCGGGAGCCCCCGC
CCGGAGAGAGTCGCGGTTGCTGATCGTGGTGCTTGAGTAGAGCCGTGGTTGGTGACAGCATGAC
GAGCGAGGTGATAGAAGACGAGAAGCAATTCTATTCCAAGGCCAAGACCTACTGGAAACAAATC
CCACCCACGGTGGACGGCATGCTTGGGGGGAAGGCCCGAACAAGACAGGAACGTCCTGTGCCCT
GGACTGTGGAGCTGGCATTGGGAGGATCACCAAGCGGCTGCTCCTGCCGCTGTTCAGAGAGGTG
GATATGGTCGACATAACGGAGGACTTCCTGGTTCAAGCCAAGACCTACCTGGGGGAGGAGGGCA
AGAGGGCCACCTCACCGATCAGCACCTGGCCGAGTTCCTGCGGCGCTGCAAGGGCAGCCTCCGC
CCCAACGGCATCATCGTCATCAAAGACAACATGGCCCAGGAGGGCGTGATTCTGGACGACGTGG
ACAGCAGCGTGTGCCGGGACCTTGACGTGGTCCGCAGGATCATCTGCAGTGCAGGCCTCAGCCT
CCTGGCCGAGGAGAGGCAGGAGAACCTCCCCGATGAGATCTACCATGTCTATAGCTTTGCCCTG
AGATGAGCCGGGGCTGGCAGGAGAAACTGAGGAACCACAGTCCTGGTGGGGGGAGCTGGCAGCT
GGGCAAGATCCAGGCGCCACGCTGGCGGTTCGTGAGTGTCGAGGCACCACTAAATATAGCTGTC
TGCCGTCCACTCATTATGCGGGCTCTTCTTCAAAAGGCAAGGTGGGACCCGGCGGGGAGGGTGC
TGCTGAACCAGCGGTGAGGCAGGAGCCCAGACCCTGCTCTCCTGCGAGATGGGATTGGGTGGAA
GGGGCTCCAGGGCTCCTGGTGCTCCCCATGTGGGAATAGGGTGGCCACATCAGTAACCGATTCC
CTGGGCCTCCAGCCCGGCCTTCCAGCCATGGGCCTGGCTGCCTGAAGAGGAAGGAAACCACCCC
CAACTTGGTTGCTGGGGACTTGAAGACTTCAGTGTGATCTTTACCTAGGGGAGGGACAGAGCTG
GGCTGGTGGAGCCCATGGGTGCTGCCTGATGGTGCTGTGGGGTGGGTGCTCATGTGCCAAGTCC
TGCTTGGCAGTGGAGACCTGGGGCCCTTAAAGTGTTACAACAGCCTGCAGCAAGGGAAGTTCCC
CGTAGCCTCAGTCTTCTCTGGGCTTGAGGCTGCTCCTTGGCAGGCATTTAAAGTAAAAAATAAA
ATGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA

hide sequence

RefSeq Acc Id:

XM_047423257 ⟹ XP_047279213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,163 - 129,636,135 (+)	NCBI

RefSeq Acc Id:

XM_047423258 ⟹ XP_047279214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,625,297 - 129,636,135 (+)	NCBI

RefSeq Acc Id:

XM_047423259 ⟹ XP_047279215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,608,872 - 129,636,135 (+)	NCBI

RefSeq Acc Id:

XM_047423260 ⟹ XP_047279216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,444 - 129,636,135 (+)	NCBI

RefSeq Acc Id:

XM_047423261 ⟹ XP_047279217

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,632,714 - 129,636,135 (+)	NCBI

RefSeq Acc Id:

XM_054362801 ⟹ XP_054218776

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	141,830,754 - 141,840,743 (+)	NCBI

RefSeq Acc Id:

XM_054362802 ⟹ XP_054218777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	141,829,903 - 141,840,743 (+)	NCBI

RefSeq Acc Id:

XM_054362803 ⟹ XP_054218778

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	141,813,472 - 141,840,743 (+)	NCBI

RefSeq Acc Id:

XM_054362804 ⟹ XP_054218779

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	141,831,048 - 141,840,743 (+)	NCBI

RefSeq Acc Id:

XM_054362805 ⟹ XP_054218780

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	141,837,321 - 141,840,743 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001273725	(Get FASTA)	NCBI Sequence Viewer
	NP_001273726	(Get FASTA)	NCBI Sequence Viewer
	NP_001273727	(Get FASTA)	NCBI Sequence Viewer
	NP_001273728	(Get FASTA)	NCBI Sequence Viewer
	NP_001273729	(Get FASTA)	NCBI Sequence Viewer
	NP_001273730	(Get FASTA)	NCBI Sequence Viewer
	NP_001273731	(Get FASTA)	NCBI Sequence Viewer
	NP_001273732	(Get FASTA)	NCBI Sequence Viewer
	NP_054783	(Get FASTA)	NCBI Sequence Viewer
	XP_047279213	(Get FASTA)	NCBI Sequence Viewer
	XP_047279214	(Get FASTA)	NCBI Sequence Viewer
	XP_047279215	(Get FASTA)	NCBI Sequence Viewer
	XP_047279216	(Get FASTA)	NCBI Sequence Viewer
	XP_047279217	(Get FASTA)	NCBI Sequence Viewer
	XP_054218776	(Get FASTA)	NCBI Sequence Viewer
	XP_054218777	(Get FASTA)	NCBI Sequence Viewer
	XP_054218778	(Get FASTA)	NCBI Sequence Viewer
	XP_054218779	(Get FASTA)	NCBI Sequence Viewer
	XP_054218780	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF14859	(Get FASTA)	NCBI Sequence Viewer
	AAH01396	(Get FASTA)	NCBI Sequence Viewer
	AAH33234	(Get FASTA)	NCBI Sequence Viewer
	BAF83646	(Get FASTA)	NCBI Sequence Viewer
	BAF85021	(Get FASTA)	NCBI Sequence Viewer
	BAG60968	(Get FASTA)	NCBI Sequence Viewer
	CAD34801	(Get FASTA)	NCBI Sequence Viewer
	EAW87893	(Get FASTA)	NCBI Sequence Viewer
	EAW87894	(Get FASTA)	NCBI Sequence Viewer
	EAW87895	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000361558
	ENSP00000361558.1
	ENSP00000361559
	ENSP00000361559.3
	ENSP00000361561
	ENSP00000361561.4
	ENSP00000361564
	ENSP00000361564.1
	ENSP00000473900
	ENSP00000473900.1
	ENSP00000473916.1
	ENSP00000474445.1
	ENSP00000478521
	ENSP00000478521.1
	ENSP00000483489
	ENSP00000483489.1
	ENSP00000484447
	ENSP00000484447.1
GenBank Protein	Q9BV86	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_054783 ⟸ NM_014064
- Peptide Label:	isoform a
- UniProtKB:	Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot), Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDS YDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRR IICSAGLSLLAEERQENLPDEIYHVYSFALR hide sequence

RefSeq Acc Id:	NP_001273725 ⟸ NM_001286796
- Peptide Label:	isoform a
- UniProtKB:	Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot), Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDS YDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRR IICSAGLSLLAEERQENLPDEIYHVYSFALR hide sequence

RefSeq Acc Id:	NP_001273726 ⟸ NM_001286797
- Peptide Label:	isoform a
- UniProtKB:	Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot), Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDS YDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRR IICSAGLSLLAEERQENLPDEIYHVYSFALR hide sequence

RefSeq Acc Id:	NP_001273727 ⟸ NM_001286798
- Peptide Label:	isoform a
- UniProtKB:	Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot), Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDS YDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRR IICSAGLSLLAEERQENLPDEIYHVYSFALR hide sequence

RefSeq Acc Id:	NP_001273730 ⟸ NM_001286801
- Peptide Label:	isoform b
- UniProtKB:	Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRATSPISTWPSSCGAARAA SAPTASSSSKTTWPRRA hide sequence

RefSeq Acc Id:	NP_001273731 ⟸ NM_001286802
- Peptide Label:	isoform c
- UniProtKB:	S4R338 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRR CKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRRIICSAGLSLLAEERQENLPDEIYH VYSFALR hide sequence

RefSeq Acc Id:	NP_001273729 ⟸ NM_001286800
- Peptide Label:	isoform b
- UniProtKB:	Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRATSPISTWPSSCGAARAA SAPTASSSSKTTWPRRA hide sequence

RefSeq Acc Id:	NP_001273732 ⟸ NM_001286803
- Peptide Label:	isoform c
- UniProtKB:	S4R338 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRR CKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRRIICSAGLSLLAEERQENLPDEIYH VYSFALR hide sequence

RefSeq Acc Id:	NP_001273728 ⟸ NM_001286799
- Peptide Label:	isoform a
- UniProtKB:	Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot), Q9BV86 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSC ALDCGAGIGRITKRLLLPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDS YDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDNMAQEGVILDDVDSSVCRDLDVVRR IICSAGLSLLAEERQENLPDEIYHVYSFALR hide sequence

RefSeq Acc Id:

ENSP00000361559 ⟸ ENST00000372481

RefSeq Acc Id:

ENSP00000361558 ⟸ ENST00000372480

RefSeq Acc Id:

ENSP00000361561 ⟸ ENST00000372483

RefSeq Acc Id:

ENSP00000361564 ⟸ ENST00000372486

RefSeq Acc Id:

ENSP00000483489 ⟸ ENST00000611055

RefSeq Acc Id:

ENSP00000473916 ⟸ ENST00000481189

RefSeq Acc Id:

ENSP00000478521 ⟸ ENST00000613644

RefSeq Acc Id:

ENSP00000473900 ⟸ ENST00000482347

RefSeq Acc Id:

ENSP00000474445 ⟸ ENST00000459968

RefSeq Acc Id:

ENSP00000484447 ⟸ ENST00000617943

RefSeq Acc Id:	XP_047279215 ⟸ XM_047423259
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047279214 ⟸ XM_047423258
- Peptide Label:	isoform X1
- UniProtKB:	Q9BV86 (UniProtKB/Swiss-Prot), Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047279213 ⟸ XM_047423257
- Peptide Label:	isoform X1
- UniProtKB:	Q9BV86 (UniProtKB/Swiss-Prot), Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047279216 ⟸ XM_047423260
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047279217 ⟸ XM_047423261
- Peptide Label:	isoform X3
- UniProtKB:	S4R338 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054218778 ⟸ XM_054362803
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054218777 ⟸ XM_054362802
- Peptide Label:	isoform X1
- UniProtKB:	Q9BV86 (UniProtKB/Swiss-Prot), Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054218776 ⟸ XM_054362801
- Peptide Label:	isoform X1
- UniProtKB:	Q9BV86 (UniProtKB/Swiss-Prot), Q5SZB9 (UniProtKB/Swiss-Prot), A8K8G7 (UniProtKB/Swiss-Prot), A8K4J2 (UniProtKB/Swiss-Prot), Q9UI28 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054218779 ⟸ XM_054362804
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054218780 ⟸ XM_054362805
- Peptide Label:	isoform X3
- UniProtKB:	S4R338 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BV86-F1-model_v2	AlphaFold	Q9BV86	1-223	view protein structure

Promoters

RGD ID:

7216367

Promoter ID:

EPDNEW_H13930

Type:

initiation region

Name:

NTMT1_2

Description:

N-terminal Xaa-Pro-Lys N-methyltransferase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H13933

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,608,889 - 129,608,949	EPDNEW

RGD ID:

7216373

Promoter ID:

EPDNEW_H13933

Type:

initiation region

Name:

NTMT1_1

Description:

N-terminal Xaa-Pro-Lys N-methyltransferase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H13930

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,626,183 - 129,626,243	EPDNEW

RGD ID:

6807893

Promoter ID:

HG_KWN:65258

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000372480, ENST00000372481, OTTHUMT00000054585, OTTHUMT00000054587, OTTHUMT00000054590, OTTHUMT00000054591, UC010MYW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	131,427,261 - 131,428,727 (+)	MPROMDB

RGD ID:

6807891

Promoter ID:

HG_KWN:65259

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Lymphoblastoid

Transcripts:

OTTHUMT00000054588

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	131,429,851 - 131,430,497 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23373	AgrOrtholog
COSMIC	NTMT1	COSMIC
Ensembl Genes	ENSG00000148335	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000372480	ENTREZGENE
	ENST00000372480.1	UniProtKB/Swiss-Prot
	ENST00000372481	ENTREZGENE
	ENST00000372481.7	UniProtKB/Swiss-Prot
	ENST00000372483	ENTREZGENE
	ENST00000372483.9	UniProtKB/Swiss-Prot
	ENST00000372486	ENTREZGENE
	ENST00000372486.5	UniProtKB/Swiss-Prot
	ENST00000459968.6	UniProtKB/TrEMBL
	ENST00000481189.1	UniProtKB/TrEMBL
	ENST00000482347	ENTREZGENE
	ENST00000482347.1	UniProtKB/TrEMBL
	ENST00000611055	ENTREZGENE
	ENST00000611055.4	UniProtKB/Swiss-Prot
	ENST00000613644	ENTREZGENE
	ENST00000613644.4	UniProtKB/Swiss-Prot
	ENST00000617943	ENTREZGENE
	ENST00000617943.4	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.150	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000148335	GTEx
HGNC ID	HGNC:23373	ENTREZGENE
Human Proteome Map	NTMT1	Human Proteome Map
InterPro	MeTrfase_NTM1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM-dependent_MTases	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:28989	UniProtKB/Swiss-Prot
NCBI Gene	28989	ENTREZGENE
OMIM	613560	OMIM
PANTHER	N-TERMINAL XAA-PRO-LYS N-METHYLTRANSFERASE 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12753	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Methyltransf_PK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162395788	PharmGKB
PIRSF	DUF858_MeTrfase_lik	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF53335	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K4J2	ENTREZGENE
	A8K8G7	ENTREZGENE
	NTM1A_HUMAN	UniProtKB/Swiss-Prot
	Q5SZB9	ENTREZGENE
	Q9BV86	ENTREZGENE
	Q9UI28	ENTREZGENE
	S4R338	ENTREZGENE, UniProtKB/TrEMBL
	S4R344_HUMAN	UniProtKB/TrEMBL
	S4R3J7_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K4J2	UniProtKB/Swiss-Prot
	A8K8G7	UniProtKB/Swiss-Prot
	Q5SZB9	UniProtKB/Swiss-Prot
	Q9UI28	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-06-19	NTMT1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	METTL11A	methyltransferase like 11A	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