TMEM250 (transmembrane protein 250)

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Gene: TMEM250 (transmembrane protein 250) Homo sapiens

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Symbol:

TMEM250

Name:

transmembrane protein 250

RGD ID:

1349018

HGNC Page

HGNC:31009

Description:

Predicted to enable GTPase activity and molecular adaptor activity. Involved in positive regulation of cell population proliferation and positive regulation of viral process. Located in cytoplasm and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bA83N9.1; C9orf69; chromosome 9 open reading frame 69; herpes virus UL25-binding protein; hypothetical protein LOC90120; uncharacterized protein LOC90120

RGD Orthologs

Alliance Orthologs

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):	Tmem250 (transmembrane protein 250)	HGNC	HomoloGene, NCBI
Rattus norvegicus (Norway rat):	Tmem250 (transmembrane protein 250)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Tmem250 (transmembrane protein 250)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TMEM250 (transmembrane protein 250)	NCBI	Ortholog
Canis lupus familiaris (dog):	TMEM250 (transmembrane protein 250)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tmem250 (transmembrane protein 250)	NCBI	Ortholog
Sus scrofa (pig):	TMEM250 (transmembrane protein 250)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	TMEM250 (transmembrane protein 250)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tmem250 (transmembrane protein 250)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tmem250 (transmembrane protein 250)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tmem250 (transmembrane protein 250)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SHS1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	tmem250	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER)
Xenopus laevis (African clawed frog):	tmem250.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tmem250.S	Alliance	DIOPT (Xenbase)

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	136,114,589 - 136,118,875 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,114,581 - 136,118,875 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	139,006,435 - 139,010,721 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	138,146,248 - 138,150,552 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	109,524,655 - 109,528,958 (-)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	108,469,372 - 108,473,646 (-)	NCBI		HuRef
CHM1_1	9	139,154,725 - 139,159,029 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	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

Adams-Oliver Syndrome 5 (IAGP)

autosomal dominant intellectual developmental disorder 8 (IAGP)

autosomal dominant nocturnal frontal lobe epilepsy 5 (IAGP)

developmental and epileptic encephalopathy 14 (IAGP)

Ehlers-Danlos syndrome classic type 1 (IAGP)

Joubert syndrome 1 (IAGP)

Kleefstra syndrome 1 (IAGP)

Leigh disease (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Rafiq syndrome (IAGP)

tuberous sclerosis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

2-deoxy-D-glucose (EXP)

aflatoxin B1 (EXP)

avobenzone (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bleomycin A2 (EXP)

buspirone (ISO)

cadmium dichloride (EXP,ISO)

camptothecin (EXP)

cisplatin (EXP)

cobalt dichloride (ISO)

copper(II) chloride (EXP)

Dibutyl phosphate (EXP)

diuron (ISO)

doxorubicin (EXP)

fenthion (ISO)

fulvestrant (EXP)

gallic acid (EXP)

hydroxyurea (EXP)

iron dichloride (EXP)

methapyrilene (EXP)

methidathion (ISO)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

sodium arsenite (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cilium assembly (IBA)

cytoskeleton-dependent cytokinesis (IBA)

positive regulation of cell population proliferation (IDA)

positive regulation of viral process (IDA)

protein localization (IBA)

Cellular Component

cell division site (IBA)

cytoplasm (IDA,IEA)

membrane (IEA)

microtubule cytoskeleton (IBA)

nucleoplasm (IDA)

nucleus (IDA,IEA)

septin complex (IBA)

septin ring (IBA)

Molecular Function

GTPase activity (IBA)

molecular adaptor activity (IBA)

protein binding (IPI)

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:12477932	PMID:14702039	PMID:16344560	PMID:21667337	PMID:21873635	PMID:32513696

Genomics

Comparative Map Data

TMEM250
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	136,114,589 - 136,118,875 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,114,581 - 136,118,875 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	139,006,435 - 139,010,721 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	138,146,248 - 138,150,552 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	109,524,655 - 109,528,958 (-)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	108,469,372 - 108,473,646 (-)	NCBI		HuRef
CHM1_1	9	139,154,725 - 139,159,029 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	NCBI		T2T-CHM13v2.0

Tmem250
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	26,026,819 - 26,030,518 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	26,026,826 - 26,030,533 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	26,136,807 - 26,140,506 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	26,136,814 - 26,140,521 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	25,983,951 - 25,996,026 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	25,958,820 - 25,962,342 (-)	NCBI		MGSCv36	mm8
Celera	2	25,850,901 - 25,863,014 (-)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	18.35	NCBI

Tmem250
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	29,360,770 - 29,364,756 (-)	NCBI		GRCr8
mRatBN7.2	3	8,962,657 - 8,966,349 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	8,962,657 - 8,966,349 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	12,016,515 - 12,020,204 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	20,599,743 - 20,603,432 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	18,855,057 - 18,858,746 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	3,590,783 - 3,594,475 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	3,590,783 - 3,594,475 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	8,952,576 - 8,956,268 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	4,317,604 - 4,321,296 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	3,785,606 - 3,789,298 (-)	NCBI		Celera
Cytogenetic Map	3	p13	NCBI

Tmem250
(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_004955513	4,520,445 - 4,524,203 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	4,520,445 - 4,524,203 (+)	NCBI	ChiLan1.0	ChiLan1.0

TMEM250
(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	3,267,774 - 3,271,805 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	3,270,109 - 3,274,140 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	107,187,362 - 107,191,642 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	136,168,980 - 136,171,292 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	136,170,880 - 136,171,292 (-)	Ensembl	panpan1.1		panPan2

TMEM250
(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	49,308,397 - 49,311,360 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	49,308,350 - 49,311,487 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	48,558,059 - 48,561,647 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	50,184,246 - 50,187,834 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	50,184,284 - 50,187,961 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	48,964,734 - 48,968,322 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	49,259,025 - 49,262,613 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	49,306,637 - 49,310,225 (+)	NCBI		UU_Cfam_GSD_1.0

Tmem250
(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	201,746,255 - 201,749,605 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936669	1,626,877 - 1,627,296 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936669	1,625,459 - 1,628,801 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TMEM250
(Sus scrofa - pig)

No map positions available.

TMEM250
(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	2,081,265 - 2,085,553 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	2,083,261 - 2,083,680 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666058	3,125,343 - 3,129,621 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tmem250
(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 1.0	NW_004624760	1,383,478 - 1,386,722 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TMEM250
2 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 9q34.2-34.3(chr9:134428674-138154922)x1	copy number loss	See cases [RCV000052936]	Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	copy number loss	See cases [RCV000052937]	Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]\|See cases [RCV000052938]	Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3	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 9q34.2-34.3(chr9:134174698-138138735)x3	copy number gain	See cases [RCV000053814]	Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3	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 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 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 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(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	copy number gain	See cases [RCV000134910]	Chr9:135164984..136437047 [GRCh38] Chr9:138056830..139331499 [GRCh37] Chr9:137196651..138451320 [NCBI36] Chr9:9q34.3	uncertain significance
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 9q34.13-34.3(chr9:132986903-138114463)x3	copy number gain	See cases [RCV000136790]	Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	copy number gain	See cases [RCV000137825]	Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
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 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 9q34.2-34.3(chr9:133996227-138124524)x3	copy number gain	See cases [RCV000139807]	Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3	pathogenic
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 9q34.2-34.3(chr9:133918071-138159073)x3	copy number gain	See cases [RCV000142955]	Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	copy number gain	See cases [RCV000142636]	Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	copy number gain	See cases [RCV000143394]	Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3	likely 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 9q34.3(chr9:138222049-141018925)x1	copy number loss	See cases [RCV000446074]	Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3	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 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 9q34.3(chr9:138209358-141020389)x1	copy number loss	See cases [RCV000510584]	Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	copy number gain	See cases [RCV000511188]	Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3	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 9q34.13-34.3(chr9:135377559-141213431)x1	copy number loss	mTOR Inhibitor response [RCV000626442]	Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3	drug response
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 9q34.13-34.3(chr9:135105971-141020389)x3	copy number gain	not provided [RCV000683160]	Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3	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 9q34.3(chr9:139008854-139010974)x1	copy number loss	not provided [RCV000749806]	Chr9:139008854..139010974 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:139008854-139015411)x0	copy number loss	not provided [RCV000749807]	Chr9:139008854..139015411 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:139010121-139010974)x1	copy number loss	not provided [RCV000749808]	Chr9:139010121..139010974 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:139010121-139010974)x3	copy number gain	not provided [RCV000749809]	Chr9:139010121..139010974 [GRCh37] Chr9:9q34.3	benign
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 9q34.3(chr9:137816459-141114095)x1	copy number loss	not provided [RCV000748787]	Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3	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 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_138683633)_(139440248_?)del	deletion	Adams-Oliver syndrome 5 [RCV000793489]	Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_138594085)_(139440258_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV000817958]	Chr9:138594085..139440258 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_138683633)_(139440248_?)dup	duplication	Adams-Oliver syndrome 5 [RCV000811364]	Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3	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 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup	duplication	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771]	Chr9:138594085..140062314 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_138645763)_(140729425_?)del	deletion	Developmental and epileptic encephalopathy, 14 [RCV001362982]\|Kleefstra syndrome 1 [RCV001031921]	Chr9:138645763..140729425 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001)	copy number loss	Microcephaly [RCV001252947]	Chr9:138225001..141015001 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV001305481]\|Intellectual disability, autosomal dominant 8 [RCV001033771]	Chr9:138594085..140062314 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:138740078-141020389)	copy number loss	not specified [RCV002052850]	Chr9:138740078..141020389 [GRCh37] Chr9:9q34.3	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
NC_000009.11:g.(?_137534034)_(139440238_?)dup	duplication	Adams-Oliver syndrome 5 [RCV003120731]\|Ehlers-Danlos syndrome, classic type, 1 [RCV001872736]	Chr9:137534034..139440238 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	Adams-Oliver syndrome 5 [RCV003119767]\|Developmental and epileptic encephalopathy, 14 [RCV003109684]\|Familial aplasia of the vermis [RCV003119768]	Chr9:138392557..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
NC_000009.11:g.(?_135139626)_(140034216_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV003111109]\|Leigh syndrome [RCV003122287]\|Rafiq syndrome [RCV003122286]\|Tuberous sclerosis 1 [RCV003111108]	Chr9:135139626..140034216 [GRCh37] Chr9:9q34.13-34.3	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
NC_000009.11:g.(?_136218768)_(141016451_?)dup	duplication	Kleefstra syndrome 1 [RCV003122719]	Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:138929784-139252520)x3	copy number gain	not provided [RCV002474960]	Chr9:138929784..139252520 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	copy number loss	See cases [RCV002640756]	Chr9:134962336..137240181 [GRCh38] Chr9:9q34.3	pathogenic
NC_000009.12:g.136119484G>A	single nucleotide variant	not provided [RCV003425863]	Chr9:136119484 [GRCh38] Chr9:139011330 [GRCh37] Chr9:9q34.3	likely benign
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	copy number gain	not provided [RCV003484786]	Chr9:136988996..141020389 [GRCh37] Chr9:9q34.2-34.3	pathogenic
NM_152833.3(TMEM250):c.382G>A (p.Gly128Ser)	single nucleotide variant	not specified [RCV004467647]	Chr9:136116519 [GRCh38] Chr9:139008365 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:135791488-138262981)	copy number loss	Kleefstra syndrome 1 [RCV004720522]	Chr9:135791488..138262981 [GRCh38] Chr9:9q34.3	pathogenic
NM_152833.3(TMEM250):c.275G>A (p.Arg92His)	single nucleotide variant	not specified [RCV004467646]	Chr9:136116626 [GRCh38] Chr9:139008472 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:134642187-138121999)	copy number loss	Kleefstra syndrome 1 [RCV004720503]	Chr9:134642187..138121999 [GRCh38] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_131678355)_(140095163_?)dup	duplication	not provided [RCV004582063]	Chr9:131678355..140095163 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:135182209-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720473]	Chr9:135182209..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135969078-138104469)	copy number loss	Kleefstra syndrome 1 [RCV004720472]	Chr9:135969078..138104469 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	copy number loss	Kleefstra syndrome 1 [RCV004720477]	Chr9:137590213..138052188 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720480]	Chr9:136926151..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	copy number loss	Kleefstra syndrome 1 [RCV004720482]	Chr9:137552409..138052113 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	copy number loss	Kleefstra syndrome 1 [RCV004720487]	Chr9:137552409..137879159 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135204722-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720508]	Chr9:135204722..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	copy number loss	Kleefstra syndrome 1 [RCV004720485]	Chr9:137552082..137728529 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135203306-138100471)	copy number loss	Kleefstra syndrome 1 [RCV004720521]	Chr9:135203306..138100471 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135008333-138199729)	copy number loss	Kleefstra syndrome 1 [RCV004720511]	Chr9:135008333..138199729 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136032451-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720514]	Chr9:136032451..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135338745-138124196)	copy number loss	Kleefstra syndrome 1 [RCV004720539]	Chr9:135338745..138124196 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	copy number loss	Kleefstra syndrome 1 [RCV004720478]	Chr9:137590213..137817525 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720481]	Chr9:137552409..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135954288-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720483]	Chr9:135954288..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	copy number loss	Kleefstra syndrome 1 [RCV004720515]	Chr9:134288333..138155727 [GRCh38] Chr9:9q34.2-34.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3324
Count of miRNA genes:	773
Interacting mature miRNAs:	898
Transcripts:	ENST00000418388, ENST00000447934, ENST00000448040, ENST00000557985, ENST00000561457
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

STS-T50077

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	139,006,454 - 139,006,645	UniSTS	GRCh37
Build 36	9	138,146,275 - 138,146,466	RGD	NCBI36
Celera	9	109,524,682 - 109,524,873	RGD
Cytogenetic Map	9	q34.3	UniSTS
HuRef	9	108,469,399 - 108,469,590	UniSTS
GeneMap99-GB4 RH Map	9	419.63	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	6	624	1948	465	2269	7303	6469	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001256526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_134506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054364145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007061370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007061371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK023162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC021231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC084549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC092490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA203953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA685158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000418388 ⟹ ENSP00000453019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,114,589 - 136,118,875 (-)	Ensembl

Ensembl Acc Id:

ENST00000447934 ⟹ ENSP00000455849

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,116,786 - 136,118,274 (-)	Ensembl

Ensembl Acc Id:

ENST00000448040 ⟹ ENSP00000458020

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,116,804 - 136,118,438 (-)	Ensembl

Ensembl Acc Id:

ENST00000557985 ⟹ ENSP00000457272

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,114,589 - 136,118,534 (-)	Ensembl

Ensembl Acc Id:

ENST00000561457 ⟹ ENSP00000452750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,114,581 - 136,118,431 (-)	Ensembl

RefSeq Acc Id:

NM_001256526 ⟹ NP_001243455

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,438 (-)	NCBI
GRCh37	9	139,006,427 - 139,010,731 (-)	NCBI
HuRef	9	108,469,372 - 108,473,646 (-)	NCBI
CHM1_1	9	139,154,725 - 139,158,575 (-)	NCBI
T2T-CHM13v2.0	9	148,343,992 - 148,347,841 (-)	NCBI

Sequence:

show sequence

GCAACGCGCGGCGCGGGACCCGGAAGTGGCTCCGGCAGGGGCTCTGCAGCCAGGGGGCCCGGCG
CGGCGCGGCGCAGGCCCGGTGCTCACGCGGAGTTGGCCGGGGCCCGTTGCGTCTCTGCGGCCCC
GAGGAAACAGTCCTGGGTCCATGGGCCGGGCCGAGCGGGCGTCTGCAGAAACGCAGGGACCCGG
ATGGAGCCGCGGGCCGCGAGACCCTGCGGGGACACAGCTCCGCCGAGTCGCGTTTGAGTGGCAC
CGCCATGGCCGGGGTCCCGGCCGGGGCGAGCTCCAGGCCAAGGCCGGCCTTAAATAGGGCCGCT
CTGGCCCCTGCACCCCGTGGAGGAGCCGGGCGGAGGGAGAGGGCGAGGCCGACGCCTCCCCCCA
GGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCCCTACGCCAACAGCCGCCTGGACAC
CGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGCCCAATGCCGGTCATGCCCATTCCG
CGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCCTGCATGCGGCCTGCGGGCCCGTGC
GCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGACGTGTACATCAAGACGCGCTGGCT
GTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGCCTGTTCACTGCGGCGCTCTGGGGT
GCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTCGCGTCCTGCTGCGCTTCCAGCGCA
AGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGTGGACTTCCGCCTGGTGAACGAGCT
GCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGGGGCCTGGGCTGGTGCTTCATGGTC
TTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTATCGTCCCGGCCTGTGGCTGTGTTC
TCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCATCCCCCAGGCAGTCGCTGCTGCCC
GGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTGATGGGGGCGCGGACACCACCCCTA
GGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCAGGGGCAGCGCCCACCTGCCGGTGG
CTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGCCCTCCGTTCCGCCTCTCTGTGGGC
CTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCACCCTGGGAGGCCCCTGGACACAGA
GGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCCTGGCTGCACAGCCCCTTCTGCGTG
CCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCCCCTCGCTGACACACCACACTGCCA
CAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGCACTGCCCGCGGACCACCCTGTGTG
TGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCCAGCCTTCAGGGTCCCCTTGGATTG
TGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGGTGGGAGGGGCCTCAGCAGGCTCCC
AGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGGGCTGACTCCAGCAACACTGGCCTG
TCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGATGCTCTGGATTTCTGCGGAGGCACC
TCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGGGCCTCTTTCTTTGAGGGAACACCG
TCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGGATGGAAACGCGTGTCCCAAGTGTC
CGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCCCCAGAGCCTGTGTGGCACCAGCAG
CATCTTAGAGCCCCAGGTATATGCTGAGATCTTATCTCACGCTGTCCTCCAGTGTCTGGGGGGC
CCAAATGATGGCACAGGGGCAGGTGGGCTGGAGGGGCGCAGATGCCTGTGTTCAGGGAGGGTGG
CCACCATGGGCCGAGGTCTCACCCAGGACCCCTTGCTCTGCTCCTCAGCCTTGCAGTCACGGCA
GCACTATGGTGGACTGCCCATGGCCGTGTGACTTTGGGGGCAAGTGGGAGGGCGCCCTGAATAA
TGATTGCAAGGACAACAGGCAGAGGCTACCCTAGAGCAGGACACAGGGTGTGGTACTGACAACC
CTAGTGTCACCTCAAATCCATGTCCCCACACTCTGGGCATGGGTGGGACTTGTGACCCTACCCT
GTCAGGCGGACCAGTGGCCCAGGAGCCATGAGGACAGTTGTGTGCCACTGGAAGAGAAACTTTT
TGAAAAACCCTAAATCAGGTAGAGAAAGCAAAAAATCTCTGGCCGTAAACCGTGCTCTCTAATT
TATCGGCAGCTTCTGTGGATGACCTCTGATGAGCCCGGGCTGCGTCCACGCCCTGGGCAGGTAG
GCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGAGAATCTTTTGCACTAAGTCATGCT
GTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACGTATTACTCAGAGTCACCCAAGCCTCTTGGCT
GAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGGTGCCGCTCGTGCGGTGTCAACGCT
GCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAGCACCTGGCCGCCTGCTGTCCCCGGTGCCTGT
GAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATTTTTTTAATGTG

hide sequence

RefSeq Acc Id:

NM_152833 ⟹ NP_690046

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,875 (-)	NCBI
GRCh37	9	139,006,427 - 139,010,731 (-)	RGD
Build 36	9	138,146,248 - 138,150,552 (-)	NCBI Archive
Celera	9	109,524,655 - 109,528,958 (-)	RGD
HuRef	9	108,469,372 - 108,473,646 (-)	RGD
CHM1_1	9	139,154,725 - 139,159,029 (-)	NCBI
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	NCBI

Sequence:

show sequence

ACGCACGCCCTCGGGAAGCGACGAGTCCGGGACGCCCAGCGCGGGCCCGGAGCAGGGGGAAGGG
AAGTGCGGCTCGGTCGGCGCGGGTGGAGGGGGCGTGAGGCCGCCCTACGGTGGCCGTCGAGGGA
CGGCGCTACGGCTCCCACGCTAGGCCAAACGCCTCCGGCGGCCGCGCCCGAGAGCCCCTTCACC
TGCAGGGCGACCCCAGCCGGCGACGCGTGAACCACGCCCTCAGCCGCCTTGCCAGCGCCCCCAG
CCGCGCGCCCCAGCACCATGCGGCCGCCCTGCGCACGGAGCCCCGAGGGACAGGGGCACCCGCA
GGCCCGGCCCCTAGCACCGCCGGCCGGCCCCGAGGTCCGGGACGCCGGCGCCGCCGCGGAGAGG
GCACCGGGCCGACGCCTCCCCCCAGGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCC
CTACGCCAACAGCCGCCTGGACACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGC
CCAATGCCGGTCATGCCCATTCCGCGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCC
TGCATGCGGCCTGCGGGCCCGTGCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGA
CGTGTACATCAAGACGCGCTGGCTGTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGC
CTGTTCACTGCGGCGCTCTGGGGTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTC
GCGTCCTGCTGCGCTTCCAGCGCAAGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGT
GGACTTCCGCCTGGTGAACGAGCTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGG
GGCCTGGGCTGGTGCTTCATGGTCTTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTA
TCGTCCCGGCCTGTGGCTGTGTTCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCA
TCCCCCAGGCAGTCGCTGCTGCCCGGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTG
ATGGGGGCGCGGACACCACCCCTAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCA
GGGGCAGCGCCCACCTGCCGGTGGCTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGC
CCTCCGTTCCGCCTCTCTGTGGGCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCA
CCCTGGGAGGCCCCTGGACACAGAGGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCC
TGGCTGCACAGCCCCTTCTGCGTGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCC
CCTCGCTGACACACCACACTGCCACAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGC
ACTGCCCGCGGACCACCCTGTGTGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCC
AGCCTTCAGGGTCCCCTTGGATTGTGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGG
TGGGAGGGGCCTCAGCAGGCTCCCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGG
GCTGACTCCAGCAACACTGGCCTGTCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGAT
GCTCTGGATTTCTGCGGAGGCACCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGG
GCCTCTTTCTTTGAGGGAACACCGTCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGG
ATGGAAACGCGTGTCCCAAGTGTCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCC
CCAGAGCCTGTGTGGCACCAGCAGCATCTTAGAGCCCCAGGTATATGCTGAGATCTTATCTCAC
GCTGTCCTCCAGTGTCTGGGGGGCCCAAATGATGGCACAGGGGCAGGTGGGCTGGAGGGGCGCA
GATGCCTGTGTTCAGGGAGGGTGGCCACCATGGGCCGAGGTCTCACCCAGGACCCCTTGCTCTG
CTCCTCAGCCTTGCAGTCACGGCAGCACTATGGTGGACTGCCCATGGCCGTGTGACTTTGGGGG
CAAGTGGGAGGGCGCCCTGAATAATGATTGCAAGGACAACAGGCAGAGGCTACCCTAGAGCAGG
ACACAGGGTGTGGTACTGACAACCCTAGTGTCACCTCAAATCCATGTCCCCACACTCTGGGCAT
GGGTGGGACTTGTGACCCTACCCTGTCAGGCGGACCAGTGGCCCAGGAGCCATGAGGACAGTTG
TGTGCCACTGGAAGAGAAACTTTTTGAAAAACCCTAAATCAGGTAGAGAAAGCAAAAAATCTCT
GGCCGTAAACCGTGCTCTCTAATTTATCGGCAGCTTCTGTGGATGACCTCTGATGAGCCCGGGC
TGCGTCCACGCCCTGGGCAGGTAGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGA
GAATCTTTTGCACTAAGTCATGCTGTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACGTATTACT
CAGAGTCACCCAAGCCTCTTGGCTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGG
TGCCGCTCGTGCGGTGTCAACGCTGCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAGCACCTGG
CCGCCTGCTGTCCCCGGTGCCTGTGAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATT
TTTTTAATGTG

hide sequence

RefSeq Acc Id:

NR_134506

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,875 (-)	NCBI
CHM1_1	9	139,154,725 - 139,159,027 (-)	NCBI
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	NCBI

Sequence:

show sequence

ACGCACGCCCTCGGGAAGCGACGAGTCCGGGACGCCCAGCGCGGGCCCGGAGCAGGGGGAAGGG
AAGTGCGGCTCGGTCGGCGCGGGTGGAGGGGGCGTGAGGCCGCCCTACGGTGGCCGTCGAGGGA
CGGCGCTACGGCTCCCACGCTAGGCCAAACGCCTCCGGCGGCCGCGCCCGAGAGCCCCTTCACC
TGCAGGGCGACCCCAGCCGGCGACGCGTGAACCACGCCCTCAGCCGCCTTGCCAGCGCCCCCAG
CCGCGCGCCCCAGCACCATGCGGCCGCCCTGCGCACGGAGCCCCGAGGGACAGGGGCACCCGCA
GGCCCGGCCCCTAGCACCGCCGGCCGGCCCCGAGGTCCGGGACGCCGGCGCCGCCGCGGAGAGG
GCACCGGGCCGACGCCTCCCCCCAGGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCC
CTACGCCAACAGCCGCCTGGACACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGC
CCAATGCCGGTCATGCCCATTCCGCGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCC
TGCATGCGGCCTGCGGGCCCGTGCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGA
CGTGTACATCAAGACGCGCTGGCTGTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGC
CTGTTCACTGCGGCGCTCTGGGGTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTC
GCGTCCTGCTGCGCTTCCAGCGCAAGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGT
GGACTTCCGCCTGGTGAACGAGCTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGG
GGCCTGGGCTGGTGCTTCATGGTCTTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTA
TCGTCCCGGCCTGTGGCTGTGTTCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCA
TCCCCCAGGCAGTCGCTGCTGCCCGGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTG
ATGGGGGCGCGGACACCACCCCTAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCA
GGGGCAGCGCCCACCTGCCGGTGGCTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGC
CCTCCGTTCCGCCTCTCTGTGGGCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCA
CCCTGGGAGGCCCCTGGACACAGAGGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCC
TGGCTGCACAGCCCCTTCTGCGTGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCC
CCTCGCTGACACACCACACTGCCACAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGC
ACTGCCCGCGGACCACCCTGTGTGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCC
AGCCTTCAGGGTCCCCTTGGATTGTGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGG
TGGGAGGGGCCTCAGCAGGCTCCCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGG
GCTGACTCCAGCAACACTGGCCTGTCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGAT
GCTCTGGATTTCTGCGGAGGCACCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGG
GCCTCTTTCTTTGAGGGAACACCGTCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGG
ATGGAAACGCGTGTCCCAAGTGTCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCC
CCAGAGCCTGTGTGGCACCAGCAGCATCTTAGAGCCCCAGCTTCTGTGGATGACCTCTGATGAG
CCCGGGCTGCGTCCACGCCCTGGGCAGGTAGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTG
CTGCAGAGAATCTTTTGCACTAAGTCATGCTGTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACG
TATTACTCAGAGTCACCCAAGCCTCTTGGCTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGG
CTGGTGGTGCCGCTCGTGCGGTGTCAACGCTGCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAG
CACCTGGCCGCCTGCTGTCCCCGGTGCCTGTGAAATTCGTCATGCCATGACCCACCTGCATTAA
ACCTATTTTTTTAATGTG

hide sequence

RefSeq Acc Id:

XM_024447712 ⟹ XP_024303480

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,439 (-)	NCBI

Sequence:

show sequence

GCGGGACCCGGAAGTGGCTCCGGCAGGGGCTCTGCAGCCAGGGGGCCCGGCGCGGCGCGGCGCA
GGCCCGGTGCTCACGCGGAGTTGGCCGGGGCCCGTTGCGTCTCTGCGGCCCCGAGGAAACAGTC
CTGGGTCCATGGGCCGGGCCGAGCGGGCGTCTGCAGAAACGCAGGGACCCGGATGGAGCCGCGG
GCCGCGAGACCCTGCGGGGACACAGCTCCGCCGAGTCGCGTTTGAGTGGCACCGCCATGGCCGG
GGTCCCGGCCGGGGCGAGCTCCAGGCCAAGGCCGGCCTTAAATAGGGCCGCTCTGGCCCCTGCA
CCCCGTGGAGGAGCCGGGCGGAGGGAGAGGGCGAGGTCGGGCCCCTGCGGGCACGGGAGGGTCA
GGCGGCCCCGGCCCCTCCCTCCTCCGCCCTGGCCAGGTCCCCACGGCAGGGCCCCAGGCTGAAT
CTGAAGGCAGGCGAAGCTCTTGGCAACAGTCCCCTGTAATGTTACCAACTTTCCTGCTCAGATT
TTATTTCCTGACCTTTGAGTTCATTCCGTCTACAGATTATTTCGGCAAGGCCGACGCCTCCCCC
CAGGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCCCTACGCCAACAGCCGCCTGGAC
ACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGCCCAATGCCGGTCATGCCCATTC
CGCGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCCTGCATGCGGCCTGCGGGCCCGT
GCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGACGTGTACATCAAGACGCGCTGG
CTGTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGCCTGTTCACTGCGGCGCTCTGGG
GTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTCGCGTCCTGCTGCGCTTCCAGCG
CAAGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGTGGACTTCCGCCTGGTGAACGAG
CTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGGGGCCTGGGCTGGTGCTTCATGG
TCTTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTATCGTCCCGGCCTGTGGCTGTGT
TCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCATCCCCCAGGCAGTCGCTGCTGC
CCGGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTGATGGGGGCGCGGACACCACCCC
TAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCAGGGGCAGCGCCCACCTGCCGGT
GGCTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGCCCTCCGTTCCGCCTCTCTGTGG
GCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCACCCTGGGAGGCCCCTGGACACA
GAGGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCCTGGCTGCACAGCCCCTTCTGCG
TGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCCCCTCGCTGACACACCACACTGC
CACAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGCACTGCCCGCGGACCACCCTGTG
TGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCCAGCCTTCAGGGTCCCCTTGGAT
TGTGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGGTGGGAGGGGCCTCAGCAGGCTC
CCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGGGCTGACTCCAGCAACACTGGCC
TGTCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGATGCTCTGGATTTCTGCGGAGGCA
CCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGGGCCTCTTTCTTTGAGGGAACAC
CGTCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGGATGGAAACGCGTGTCCCAAGTG
TCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCCCCAGAGCCTGTGTGGCACCAGC
AGCATCTTAGAGCCCCAGGTATATGCTGAGATCTTATCTCACGCTGTCCTCCAGTGTCTGGGGG
GCCCAAATGATGGCACAGGGGCAGGTGGGCTGGAGGGGCGCAGATGCCTGTGTTCAGGGAGGGT
GGCCACCATGGGCCGAGGTCTCACCCAGGACCCCTTGCTCTGCTCCTCAGCCTTGCAGTCACGG
CAGCACTATGGTGGACTGCCCATGGCCGTGTGACTTTGGGGGCAAGTGGGAGGGCGCCCTGAAT
AATGATTGCAAGGACAACAGGCAGAGGCTACCCTAGAGCAGGACACAGGGTGTGGTACTGACAA
CCCTAGTGTCACCTCAAATCCATGTCCCCACACTCTGGGCATGGGTGGGACTTGTGACCCTACC
CTGTCAGGCGGACCAGTGGCCCAGGAGCCATGAGGACAGTTGTGTGCCACTGGAAGAGAAACTT
TTTGAAAAACCCTAAATCAGGTAGAGAAAGCAAAAAATCTCTGGCCGTAAACCGTGCTCTCTAA
TTTATCGGCAGCTTCTGTGGATGACCTCTGATGAGCCCGGGCTGCGTCCACGCCCTGGGCAGGT
AGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGAGAATCTTTTGCACTAAGTCATG
CTGTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACGTATTACTCAGAGTCACCCAAGCCTCTTGG
CTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGGTGCCGCTCGTGCGGTGTCAACG
CTGCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAGCACCTGGCCGCCTGCTGTCCCCGGTGCCT
GTGAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATTTTTTTAATGTGTTGATGGA

hide sequence

RefSeq Acc Id:

XM_054364145 ⟹ XP_054220120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	148,343,992 - 148,347,842 (-)	NCBI

RefSeq Acc Id:

XR_007061371

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,439 (-)	NCBI

RefSeq Acc Id:

XR_008488103

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	148,343,992 - 148,347,842 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001243455	(Get FASTA)	NCBI Sequence Viewer
	NP_690046	(Get FASTA)	NCBI Sequence Viewer
	XP_024303480	(Get FASTA)	NCBI Sequence Viewer
	XP_054220120	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000452750
	ENSP00000452750.2
	ENSP00000453019
	ENSP00000453019.1
	ENSP00000455849.1
	ENSP00000457272.1
	ENSP00000458020.1
GenBank Protein	H0YL14	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_690046 ⟸ NM_152833
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVMPIPRRVRSFHGPHTTCLHAACGPVRASHLARTKYNNFDVYIKTRWLYGFIRFLLYFSCSL FTAALWGALAALFCLQYLGVRVLLRFQRKLSVLLLLLGRRRVDFRLVNELLVYGIHVTMLLVGG LGWCFMVFVDM hide sequence

RefSeq Acc Id:	NP_001243455 ⟸ NM_001256526
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVMPIPRRVRSFHGPHTTCLHAACGPVRASHLARTKYNNFDVYIKTRWLYGFIRFLLYFSCSL FTAALWGALAALFCLQYLGVRVLLRFQRKLSVLLLLLGRRRVDFRLVNELLVYGIHVTMLLVGG LGWCFMVFVDM hide sequence

RefSeq Acc Id:	XP_024303480 ⟸ XM_024447712
- Peptide Label:	isoform X1
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVMPIPRRVRSFHGPHTTCLHAACGPVRASHLARTKYNNFDVYIKTRWLYGFIRFLLYFSCSL FTAALWGALAALFCLQYLGVRVLLRFQRKLSVLLLLLGRRRVDFRLVNELLVYGIHVTMLLVGG LGWCFMVFVDM hide sequence

Ensembl Acc Id:

ENSP00000457272 ⟸ ENST00000557985

Ensembl Acc Id:

ENSP00000453019 ⟸ ENST00000418388

Ensembl Acc Id:

ENSP00000452750 ⟸ ENST00000561457

Ensembl Acc Id:

ENSP00000455849 ⟸ ENST00000447934

Ensembl Acc Id:

ENSP00000458020 ⟸ ENST00000448040

RefSeq Acc Id:	XP_054220120 ⟸ XM_054364145
- Peptide Label:	isoform X1
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-H0YL14-F1-model_v2	AlphaFold	H0YL14	1-139	view protein structure

Promoters

RGD ID:

7216625

Promoter ID:

EPDNEW_H14059

Type:

initiation region

Name:

C9orf69_2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14060

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,118,608 - 136,118,668	EPDNEW

RGD ID:

7216627

Promoter ID:

EPDNEW_H14060

Type:

initiation region

Name:

C9orf69_1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14059

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,118,875 - 136,118,935	EPDNEW

RGD ID:

6807337

Promoter ID:

HG_KWN:65568

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000055044

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	138,147,026 - 138,148,427 (-)	MPROMDB

RGD ID:

6808385

Promoter ID:

HG_KWN:65569

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_152833, OTTHUMT00000055042, OTTHUMT00000055045, UC004CGY.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	138,149,536 - 138,151,322 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:31009	AgrOrtholog
COSMIC	TMEM250	COSMIC
Ensembl Genes	ENSG00000238227	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000418388	ENTREZGENE
	ENST00000418388.6	UniProtKB/Swiss-Prot
	ENST00000447934.1	UniProtKB/TrEMBL
	ENST00000448040.2	UniProtKB/TrEMBL
	ENST00000557985.2	UniProtKB/Swiss-Prot
	ENST00000561457	ENTREZGENE
	ENST00000561457.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000238227	GTEx
HGNC ID	HGNC:31009	ENTREZGENE
Human Proteome Map	TMEM250	Human Proteome Map
InterPro	DUF5533	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TM250_HUMAN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:90120	UniProtKB/Swiss-Prot
NCBI Gene	TMEM250	ENTREZGENE
PANTHER	TRANSMEMBRANE PROTEIN 250	UniProtKB/Swiss-Prot
	TRANSMEMBRANE PROTEIN 250	UniProtKB/Swiss-Prot
	TRANSMEMBRANE PROTEIN 250	UniProtKB/TrEMBL
	TRANSMEMBRANE PROTEIN 250	UniProtKB/TrEMBL
Pfam	DUF5533	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134944430	PharmGKB
UniProt	H0YL14	ENTREZGENE
	H3BQM9_HUMAN	UniProtKB/TrEMBL
	H3BVA3_HUMAN	UniProtKB/TrEMBL
	TM250_HUMAN	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-14	TMEM250	transmembrane protein 250	C9orf69	chromosome 9 open reading frame 69	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