GTPBP2 (GTP binding protein 2) - Rat Genome Database

Name: GTPBP2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: GTPBP2 (GTP binding protein 2) Homo sapiens

Analyze

Symbol:

GTPBP2

Name:

GTP binding protein 2

RGD ID:

1314943

HGNC Page

HGNC:4670

Description:

Enables identical protein binding activity. Predicted to be involved in translational elongation. Predicted to act upstream of or within nuclear-transcribed mRNA catabolic process, no-go decay and rescue of stalled ribosome. Predicted to be located in extracellular region and platelet alpha granule lumen.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

GTP-binding protein 2; JABELS; MGC74725

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Gtpbp2 (GTP binding protein 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gtpbp2 (GTP binding protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gtpbp2 (GTP binding protein 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GTPBP2 (GTP binding protein 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	GTPBP2 (GTP binding protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gtpbp2 (GTP binding protein 2)	NCBI	Ortholog
Sus scrofa (pig):	GTPBP2 (GTP binding protein 2)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	GTPBP2 (GTP binding protein 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gtpbp2 (GTP binding protein 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gtpbp2 (GTP binding protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gtpbp2 (GTP binding protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG2017	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	T04H1.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	gtpbp2b	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	gtpbp2a	Alliance	DIOPT (Ensembl Compara\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	gtpbp2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	gtpbp2.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	gtpbp2.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	6	43,620,494 - 43,631,333 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	6	43,605,316 - 43,629,264 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	43,588,231 - 43,597,001 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	43,696,196 - 43,704,914 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	43,696,195 - 43,704,914	NCBI
Celera	6	45,139,839 - 45,148,557 (-)	NCBI		Celera
Cytogenetic Map	6	p21.1	NCBI
HuRef	6	43,307,393 - 43,316,111 (-)	NCBI		HuRef
CHM1_1	6	43,591,281 - 43,599,999 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	43,449,227 - 43,460,058 (-)	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

cholestasis (EXP)

genetic disease (IAGP)

infantile Refsum disease (IAGP)

JABERI-ELAHI SYNDROME (IAGP)

Zellweger syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-epigallocatechin 3-gallate (EXP)

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

1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

2-hydroxypropanoic acid (EXP)

3',5'-cyclic AMP (ISO)

3,4-methylenedioxymethamphetamine (ISO)

5-aza-2'-deoxycytidine (EXP)

acetylsalicylic acid (EXP)

acrolein (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (ISO)

benzo[a]pyrene diol epoxide I (EXP)

bicalutamide (EXP)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

butanal (EXP)

C60 fullerene (ISO)

carbamazepine (EXP)

celastrol (EXP)

chromium(6+) (ISO)

cisplatin (EXP)

clofibrate (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) chloride (EXP)

cyclosporin A (EXP,ISO)

diclofenac (ISO)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fipronil (ISO)

fluoranthene (ISO)

folic acid (ISO)

gedunin (EXP)

genistein (ISO)

gentamycin (ISO)

hydrogen chloride (EXP)

hydrogen cyanide (ISO)

hydroquinone (EXP)

lucanthone (EXP)

methapyrilene (ISO)

methotrexate (EXP)

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

N-methylformamide (ISO)

ozone (EXP,ISO)

paracetamol (EXP,ISO)

pentanal (EXP)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

potassium chromate (EXP)

potassium cyanide (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP,ISO)

sunitinib (EXP)

tetrachloromethane (ISO)

tetraphene (ISO)

trichostatin A (EXP)

trovafloxacin (ISO)

tunicamycin (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biological_process (ND)

nuclear-transcribed mRNA catabolic process, no-go decay (ISO)

rescue of stalled ribosome (ISO)

translational elongation (IBA)

Cellular Component

extracellular region (TAS)

platelet alpha granule lumen (TAS)

Molecular Function

GTP binding (IEA)

GTPase activity (IEA)

identical protein binding (IPI)

nucleotide binding (IEA)

protein binding (IPI)

translation elongation factor activity (IBA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Appendicular spasticity (IAGP)

Autosomal recessive inheritance (IAGP)

Bilateral tonic-clonic seizure (IAGP)

Brisk reflexes (IAGP)

Brittle hair (IAGP)

Broad-based gait (IAGP)

Cataract (IAGP)

Cerebellar vermis atrophy (IAGP)

Childhood onset (IAGP)

Choreoathetosis (IAGP)

Dandy-Walker malformation (IAGP)

Depressed nasal bridge (IAGP)

Distal muscle weakness (IAGP)

Dysmetria (IAGP)

Dystonia (IAGP)

Failure to thrive (IAGP)

Fine hair (IAGP)

Gait ataxia (IAGP)

Global developmental delay (IAGP)

Globus pallidus hypointensity on susceptibility-weighted imaging (IAGP)

Hand clenching (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypotonia (IAGP)

Inability to walk (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Joint hypermobility (IAGP)

Joint stiffness (IAGP)

Kyphosis (IAGP)

Low-set ears (IAGP)

Microcephaly (IAGP)

Motor delay (IAGP)

Muscle weakness (IAGP)

Myopia (IAGP)

Narrow forehead (IAGP)

Optic atrophy (IAGP)

Pectus carinatum (IAGP)

Protruding ear (IAGP)

Scoliosis (IAGP)

Severe global developmental delay (IAGP)

Short nose (IAGP)

Sparse eyebrow (IAGP)

Sparse eyelashes (IAGP)

Sparse hair (IAGP)

Substantia nigra hypointensity on susceptibility-weighted imaging (IAGP)

Talipes equinovarus (IAGP)

Tremor (IAGP)

Triangular mouth (IAGP)

Visual impairment (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:10833435	PMID:11054535	PMID:12477932	PMID:14574404	PMID:14702039	PMID:15146197	PMID:15489334	PMID:21873635	PMID:21903422	PMID:23455924	PMID:24778252
PMID:26186194	PMID:26496610	PMID:26675814	PMID:28514442	PMID:29449720	PMID:30108131	PMID:30790272	PMID:31091453	PMID:31343991	PMID:31753913	PMID:32296183	PMID:32513696
PMID:32694731	PMID:33961781	PMID:35007762	PMID:35013218	PMID:35509820	PMID:35559673	PMID:35563538	PMID:35844135

Genomics

Comparative Map Data

GTPBP2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	43,620,494 - 43,631,333 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	6	43,605,316 - 43,629,264 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	43,588,231 - 43,597,001 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	43,696,196 - 43,704,914 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	43,696,195 - 43,704,914	NCBI
Celera	6	45,139,839 - 45,148,557 (-)	NCBI		Celera
Cytogenetic Map	6	p21.1	NCBI
HuRef	6	43,307,393 - 43,316,111 (-)	NCBI		HuRef
CHM1_1	6	43,591,281 - 43,599,999 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	43,449,227 - 43,460,058 (-)	NCBI		T2T-CHM13v2.0

Gtpbp2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	46,470,153 - 46,480,294 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	46,471,958 - 46,480,296 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	46,159,227 - 46,169,370 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	46,161,032 - 46,169,370 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	46,297,981 - 46,306,319 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	45,624,652 - 45,632,949 (+)	NCBI		MGSCv36	mm8
Celera	17	49,592,493 - 49,600,833 (+)	NCBI		Celera
Cytogenetic Map	17	C	NCBI

Gtpbp2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	9	14,813,964 - 14,823,419 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	14,813,964 - 14,823,241 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	23,398,503 - 23,406,541 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	9	28,461,081 - 28,469,121 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	9	26,761,927 - 26,769,965 (-)	NCBI	Rnor_WKY
Rnor_6.0	9	17,198,957 - 17,208,456 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	17,198,957 - 17,209,220 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	16,095,446 - 16,104,949 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	9	10,377,808 - 10,385,845 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	9	10,375,131 - 10,384,425 (-)	NCBI
Celera	9	12,561,278 - 12,569,316 (-)	NCBI		Celera
Cytogenetic Map	9	q12	NCBI

Gtpbp2
(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_004955437	9,412,934 - 9,424,365 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	9,414,128 - 9,425,671 (-)	NCBI	ChiLan1.0	ChiLan1.0

GTPBP2
(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	6	53,988,453 - 53,997,156 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	43,210,517 - 43,219,296 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	44,500,581 - 44,509,303 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	44,500,159 - 44,511,300 (-)	Ensembl	panpan1.1		panPan2

GTPBP2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	12,073,233 - 12,082,630 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	12,074,264 - 12,080,937 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	12,063,741 - 12,107,420 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	12,520,899 - 12,564,921 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	12,557,235 - 12,564,888 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	12,046,366 - 12,090,006 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	12,132,509 - 12,177,041 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	12,226,883 - 12,270,550 (-)	NCBI		UU_Cfam_GSD_1.0

Gtpbp2
(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_024404946	47,562,610 - 47,572,009 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	16,389,639 - 16,397,603 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936476	16,389,659 - 16,397,603 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GTPBP2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	38,603,474 - 38,613,647 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	38,598,763 - 38,613,217 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	44,185,990 - 44,197,077 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GTPBP2
(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	17	28,533,531 - 28,544,055 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	28,535,410 - 28,542,932 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	43,673,684 - 43,682,387 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gtpbp2
(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_004624754	16,053,822 - 16,060,871 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	16,052,001 - 16,060,925 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GTPBP2
121 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter)	single nucleotide variant	Jaberi-Elahi syndrome [RCV000655891]	Chr6:43623950 [GRCh38] Chr6:43591687 [GRCh37] Chr6:6p21.1	pathogenic
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	copy number loss	See cases [RCV000051011]	Chr6:42368558..44590544 [GRCh38] Chr6:42336296..44558281 [GRCh37] Chr6:42444274..44666259 [NCBI36] Chr6:6p21.1	pathogenic
GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]\|See cases [RCV000051899]	Chr6:42133625..44106194 [GRCh38] Chr6:42101363..44073931 [GRCh37] Chr6:42209341..44181909 [NCBI36] Chr6:6p21.1	pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	copy number loss	See cases [RCV000052181]	Chr6:37777369..45653843 [GRCh38] Chr6:37745145..45621580 [GRCh37] Chr6:37853123..45729558 [NCBI36] Chr6:6p21.2-21.1	pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	copy number loss	See cases [RCV000052182]	Chr6:41638061..46512949 [GRCh38] Chr6:41605799..46480686 [GRCh37] Chr6:41713777..46588645 [NCBI36] Chr6:6p21.1-12.3	pathogenic
NM_019096.4(GTPBP2):c.1397G>C (p.Cys466Ser)	single nucleotide variant	Malignant melanoma [RCV000061437]	Chr6:43622703 [GRCh38] Chr6:43590440 [GRCh37] Chr6:43698418 [NCBI36] Chr6:6p21.1	not provided
GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	copy number gain	See cases [RCV000138182]	Chr6:43537357..43784452 [GRCh38] Chr6:43505094..43752189 [GRCh37] Chr6:43613072..43860167 [NCBI36] Chr6:6p21.1	uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter)	single nucleotide variant	Jaberi-Elahi syndrome [RCV002281894]	Chr6:43625413 [GRCh38] Chr6:43593150 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.1237-1G>T	single nucleotide variant	Jaberi-Elahi syndrome [RCV000655889]	Chr6:43623796 [GRCh38] Chr6:43591533 [GRCh37] Chr6:6p21.1	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter)	single nucleotide variant	Jaberi-Elahi syndrome [RCV000655892]	Chr6:43622692 [GRCh38] Chr6:43590429 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter)	single nucleotide variant	Jaberi-Elahi syndrome [RCV000655890]	Chr6:43625833 [GRCh38] Chr6:43593570 [GRCh37] Chr6:6p21.1	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_019096.5(GTPBP2):c.-5G>A	single nucleotide variant	not provided [RCV001692654]	Chr6:43629167 [GRCh38] Chr6:43596904 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.450C>T (p.Ser150=)	single nucleotide variant	not provided [RCV000970141]	Chr6:43625813 [GRCh38] Chr6:43593550 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.398+10C>G	single nucleotide variant	not provided [RCV000972426]	Chr6:43626216 [GRCh38] Chr6:43593953 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.1743C>T (p.Gly581=)	single nucleotide variant	not provided [RCV000971887]	Chr6:43621680 [GRCh38] Chr6:43589417 [GRCh37] Chr6:6p21.1	benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_019096.5(GTPBP2):c.1236+1G>A	single nucleotide variant	Jaberi-Elahi syndrome [RCV000985150]	Chr6:43623932 [GRCh38] Chr6:43591669 [GRCh37] Chr6:6p21.1	likely pathogenic
NM_019096.5(GTPBP2):c.1629C>G (p.Ala543=)	single nucleotide variant	not provided [RCV003116834]	Chr6:43622006 [GRCh38] Chr6:43589743 [GRCh37] Chr6:6p21.1	likely benign
NC_000006.11:g.(?_42162409)_(44154249_?)del	deletion	not provided [RCV003107587]	Chr6:42162409..44154249 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.881-18G>A	single nucleotide variant	See cases [RCV002253105]	Chr6:43624747 [GRCh38] Chr6:43592484 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.213+200T>C	single nucleotide variant	not provided [RCV001720652]	Chr6:43626722 [GRCh38] Chr6:43594459 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.399-156A>G	single nucleotide variant	not provided [RCV001710461]	Chr6:43626020 [GRCh38] Chr6:43593757 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.1295+23C>T	single nucleotide variant	not provided [RCV001539549]	Chr6:43623714 [GRCh38] Chr6:43591451 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)	microsatellite	Jaberi-Elahi syndrome [RCV001251123]	Chr6:43622107..43622108 [GRCh38] Chr6:43589844..43589845 [GRCh37] Chr6:6p21.1	likely pathogenic
NM_019096.5(GTPBP2):c.1467+106AC[2]	microsatellite	not provided [RCV001538727]	Chr6:43622522..43622523 [GRCh38] Chr6:43590259..43590260 [GRCh37] Chr6:6p21.1	benign
NC_000006.11:g.(?_42928506)_(43737486_?)del	deletion	not provided [RCV001384708]	Chr6:42928506..43737486 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.1429C>T (p.Leu477=)	single nucleotide variant	not provided [RCV001520394]	Chr6:43622671 [GRCh38] Chr6:43590408 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.398+63G>T	single nucleotide variant	not provided [RCV001538501]	Chr6:43626163 [GRCh38] Chr6:43593900 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.1761T>C (p.Asp587=)	single nucleotide variant	not provided [RCV001450690]	Chr6:43621662 [GRCh38] Chr6:43589399 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1101-183_1101-180del	deletion	not provided [RCV001685684]	Chr6:43624248..43624251 [GRCh38] Chr6:43591985..43591988 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.86G>C (p.Gly29Ala)	single nucleotide variant	not provided [RCV001515476]	Chr6:43629077 [GRCh38] Chr6:43596814 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.114dup (p.Pro39fs)	duplication	Jaberi-Elahi syndrome [RCV001782237]	Chr6:43629048..43629049 [GRCh38] Chr6:43596785..43596786 [GRCh37] Chr6:6p21.1	likely pathogenic
NM_019096.5(GTPBP2):c.1187_1188insT (p.Asn397fs)	insertion	Jaberi-Elahi syndrome [RCV001782238]	Chr6:43623981..43623982 [GRCh38] Chr6:43591718..43591719 [GRCh37] Chr6:6p21.1	likely pathogenic
NM_019096.5(GTPBP2):c.1053_1054del (p.Glu352fs)	deletion	Jaberi-Elahi syndrome [RCV001807965]	Chr6:43624556..43624557 [GRCh38] Chr6:43592293..43592294 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.92_93delinsAA (p.Gly31Glu)	indel	not provided [RCV001875222]	Chr6:43629070..43629071 [GRCh38] Chr6:43596807..43596808 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1512G>A (p.Ser504=)	single nucleotide variant	not provided [RCV002008221]	Chr6:43622123 [GRCh38] Chr6:43589860 [GRCh37] Chr6:6p21.1	likely benign\|uncertain significance
NM_019096.5(GTPBP2):c.301G>A (p.Val101Ile)	single nucleotide variant	not provided [RCV002020509]	Chr6:43626323 [GRCh38] Chr6:43594060 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.217A>G (p.Lys73Glu)	single nucleotide variant	not provided [RCV001896093]	Chr6:43626407 [GRCh38] Chr6:43594144 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.547T>G (p.Ser183Ala)	single nucleotide variant	not provided [RCV001987909]	Chr6:43625521 [GRCh38] Chr6:43593258 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.165C>A (p.Asn55Lys)	single nucleotide variant	Inborn genetic diseases [RCV002563478]\|not provided [RCV001987940]	Chr6:43628998 [GRCh38] Chr6:43596735 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.179C>T (p.Pro60Leu)	single nucleotide variant	not provided [RCV001931619]	Chr6:43628984 [GRCh38] Chr6:43596721 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1667G>A (p.Arg556His)	single nucleotide variant	Inborn genetic diseases [RCV002550341]\|not provided [RCV001907837]	Chr6:43621756 [GRCh38] Chr6:43589493 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1784A>C (p.Glu595Ala)	single nucleotide variant	not provided [RCV001964667]	Chr6:43621639 [GRCh38] Chr6:43589376 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.418G>A (p.Val140Ile)	single nucleotide variant	not provided [RCV001893323]	Chr6:43625845 [GRCh38] Chr6:43593582 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1757C>G (p.Thr586Ser)	single nucleotide variant	not provided [RCV001954882]	Chr6:43621666 [GRCh38] Chr6:43589403 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1650C>T (p.Gly550=)	single nucleotide variant	not provided [RCV001882025]	Chr6:43621773 [GRCh38] Chr6:43589510 [GRCh37] Chr6:6p21.1	likely benign\|uncertain significance
NM_019096.5(GTPBP2):c.520C>T (p.Arg174Cys)	single nucleotide variant	not provided [RCV001970760]	Chr6:43625548 [GRCh38] Chr6:43593285 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.290G>A (p.Arg97His)	single nucleotide variant	not provided [RCV001921478]	Chr6:43626334 [GRCh38] Chr6:43594071 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1526A>C (p.Glu509Ala)	single nucleotide variant	not provided [RCV001892375]	Chr6:43622109 [GRCh38] Chr6:43589846 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.705+9G>A	single nucleotide variant	not provided [RCV002081552]	Chr6:43625354 [GRCh38] Chr6:43593091 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.36C>T (p.Cys12=)	single nucleotide variant	not provided [RCV002212684]	Chr6:43629127 [GRCh38] Chr6:43596864 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1404G>A (p.Val468=)	single nucleotide variant	not provided [RCV002125006]	Chr6:43622696 [GRCh38] Chr6:43590433 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.846C>T (p.Cys282=)	single nucleotide variant	not provided [RCV002216963]	Chr6:43624922 [GRCh38] Chr6:43592659 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1206G>A (p.Glu402=)	single nucleotide variant	not provided [RCV002219658]	Chr6:43623963 [GRCh38] Chr6:43591700 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.909G>A (p.Leu303=)	single nucleotide variant	not provided [RCV002101996]	Chr6:43624701 [GRCh38] Chr6:43592438 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.213+11G>A	single nucleotide variant	not provided [RCV002178216]	Chr6:43626911 [GRCh38] Chr6:43594648 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.398+18C>T	single nucleotide variant	not provided [RCV002198144]	Chr6:43626208 [GRCh38] Chr6:43593945 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.507+13C>T	single nucleotide variant	not provided [RCV002075096]	Chr6:43625743 [GRCh38] Chr6:43593480 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1572G>A (p.Gln524=)	single nucleotide variant	not provided [RCV002160486]	Chr6:43622063 [GRCh38] Chr6:43589800 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1746C>T (p.Ile582=)	single nucleotide variant	not provided [RCV002163077]	Chr6:43621677 [GRCh38] Chr6:43589414 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.881-17C>T	single nucleotide variant	not provided [RCV002166410]	Chr6:43624746 [GRCh38] Chr6:43592483 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.399-13C>G	single nucleotide variant	not provided [RCV002137835]	Chr6:43625877 [GRCh38] Chr6:43593614 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.705+20C>T	single nucleotide variant	not provided [RCV002162172]	Chr6:43625343 [GRCh38] Chr6:43593080 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.880+11T>A	single nucleotide variant	not provided [RCV002081718]	Chr6:43624877 [GRCh38] Chr6:43592614 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.963T>C (p.Cys321=)	single nucleotide variant	not provided [RCV002197843]	Chr6:43624647 [GRCh38] Chr6:43592384 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.219G>A (p.Lys73=)	single nucleotide variant	not provided [RCV002197846]	Chr6:43626405 [GRCh38] Chr6:43594142 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1468-14C>T	single nucleotide variant	not provided [RCV002096258]	Chr6:43622181 [GRCh38] Chr6:43589918 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.516C>T (p.Asp172=)	single nucleotide variant	not provided [RCV002208411]	Chr6:43625552 [GRCh38] Chr6:43593289 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.60C>A (p.Ala20=)	single nucleotide variant	not provided [RCV002154622]	Chr6:43629103 [GRCh38] Chr6:43596840 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.62T>C (p.Val21Ala)	single nucleotide variant	not provided [RCV002220257]	Chr6:43629101 [GRCh38] Chr6:43596838 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.186+19G>A	single nucleotide variant	not provided [RCV002163494]	Chr6:43628958 [GRCh38] Chr6:43596695 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1719G>A (p.Leu573=)	single nucleotide variant	not provided [RCV002205912]	Chr6:43621704 [GRCh38] Chr6:43589441 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1179G>A (p.Pro393=)	single nucleotide variant	not provided [RCV002105463]	Chr6:43623990 [GRCh38] Chr6:43591727 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1698G>C (p.Leu566=)	single nucleotide variant	not provided [RCV002106683]	Chr6:43621725 [GRCh38] Chr6:43589462 [GRCh37] Chr6:6p21.1	likely benign
NC_000006.11:g.(?_41126341)_(43752536_?)del	deletion	Peroxisome biogenesis disorder [RCV003110948]	Chr6:41126341..43752536 [GRCh37] Chr6:6p21.1	pathogenic
NC_000006.11:g.(?_41126341)_(43737486_?)dup	duplication	PRPH2-Related Disorders [RCV003111022]	Chr6:41126341..43737486 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.93C>T (p.Gly31=)	single nucleotide variant	not provided [RCV002263409]	Chr6:43629070 [GRCh38] Chr6:43596807 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter)	single nucleotide variant	Jaberi-Elahi syndrome [RCV002281893]	Chr6:43622077 [GRCh38] Chr6:43589814 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.1632+3G>A	single nucleotide variant	not provided [RCV002858375]	Chr6:43622000 [GRCh38] Chr6:43589737 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.532C>T (p.Leu178=)	single nucleotide variant	not provided [RCV002819236]	Chr6:43625536 [GRCh38] Chr6:43593273 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.386G>A (p.Arg129Gln)	single nucleotide variant	Inborn genetic diseases [RCV002865898]	Chr6:43626238 [GRCh38] Chr6:43593975 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1672C>T (p.Arg558Cys)	single nucleotide variant	not provided [RCV002616658]	Chr6:43621751 [GRCh38] Chr6:43589488 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1509C>T (p.Cys503=)	single nucleotide variant	not provided [RCV002613654]	Chr6:43622126 [GRCh38] Chr6:43589863 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.858C>T (p.Leu286=)	single nucleotide variant	not provided [RCV003095648]	Chr6:43624910 [GRCh38] Chr6:43592647 [GRCh37] Chr6:6p21.1	likely benign
GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	copy number gain	not provided [RCV002475643]	Chr6:43571555..44154599 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.454A>G (p.Met152Val)	single nucleotide variant	not provided [RCV002970645]	Chr6:43625809 [GRCh38] Chr6:43593546 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.859G>C (p.Val287Leu)	single nucleotide variant	Inborn genetic diseases [RCV002799002]	Chr6:43624909 [GRCh38] Chr6:43592646 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1605G>A (p.Thr535=)	single nucleotide variant	not provided [RCV002590683]	Chr6:43622030 [GRCh38] Chr6:43589767 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.109G>T (p.Gly37Trp)	single nucleotide variant	Inborn genetic diseases [RCV002693805]	Chr6:43629054 [GRCh38] Chr6:43596791 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.52G>T (p.Gly18Cys)	single nucleotide variant	Inborn genetic diseases [RCV002703739]	Chr6:43629111 [GRCh38] Chr6:43596848 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1077C>T (p.Ala359=)	single nucleotide variant	not provided [RCV002636907]	Chr6:43624533 [GRCh38] Chr6:43592270 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1609G>C (p.Val537Leu)	single nucleotide variant	not provided [RCV002690906]	Chr6:43622026 [GRCh38] Chr6:43589763 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.27C>T (p.Phe9=)	single nucleotide variant	not provided [RCV002912680]	Chr6:43629136 [GRCh38] Chr6:43596873 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.507+17C>T	single nucleotide variant	not provided [RCV002870695]	Chr6:43625739 [GRCh38] Chr6:43593476 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.84G>A (p.Arg28=)	single nucleotide variant	not provided [RCV002659488]	Chr6:43629079 [GRCh38] Chr6:43596816 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.643A>G (p.Ile215Val)	single nucleotide variant	not provided [RCV003038604]	Chr6:43625425 [GRCh38] Chr6:43593162 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.369G>C (p.Ser123=)	single nucleotide variant	not provided [RCV002658716]	Chr6:43626255 [GRCh38] Chr6:43593992 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1434G>A (p.Ala478=)	single nucleotide variant	not provided [RCV002870876]	Chr6:43622666 [GRCh38] Chr6:43590403 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.67G>C (p.Gly23Arg)	single nucleotide variant	Inborn genetic diseases [RCV002693899]	Chr6:43629096 [GRCh38] Chr6:43596833 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1101-3C>T	single nucleotide variant	not provided [RCV002619679]	Chr6:43624071 [GRCh38] Chr6:43591808 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1606G>T (p.Ala536Ser)	single nucleotide variant	Inborn genetic diseases [RCV003079345]\|not provided [RCV003079346]	Chr6:43622029 [GRCh38] Chr6:43589766 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1546G>A (p.Ala516Thr)	single nucleotide variant	Inborn genetic diseases [RCV002954781]	Chr6:43622089 [GRCh38] Chr6:43589826 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.471C>T (p.Thr157=)	single nucleotide variant	not provided [RCV002644369]	Chr6:43625792 [GRCh38] Chr6:43593529 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.881-12C>T	single nucleotide variant	not provided [RCV002790278]	Chr6:43624741 [GRCh38] Chr6:43592478 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.457C>T (p.Pro153Ser)	single nucleotide variant	not provided [RCV002574792]	Chr6:43625806 [GRCh38] Chr6:43593543 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.300C>T (p.Ala100=)	single nucleotide variant	not provided [RCV002572402]	Chr6:43626324 [GRCh38] Chr6:43594061 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.480A>G (p.Leu160=)	single nucleotide variant	not provided [RCV002914746]	Chr6:43625783 [GRCh38] Chr6:43593520 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.451G>A (p.Asp151Asn)	single nucleotide variant	not provided [RCV002875728]	Chr6:43625812 [GRCh38] Chr6:43593549 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.417C>T (p.Thr139=)	single nucleotide variant	not provided [RCV002700346]	Chr6:43625846 [GRCh38] Chr6:43593583 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.589dup (p.Leu197fs)	duplication	not provided [RCV002791274]	Chr6:43625478..43625479 [GRCh38] Chr6:43593215..43593216 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.1146G>C (p.Leu382=)	single nucleotide variant	not provided [RCV002786739]	Chr6:43624023 [GRCh38] Chr6:43591760 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1578A>G (p.Thr526=)	single nucleotide variant	not provided [RCV002958202]	Chr6:43622057 [GRCh38] Chr6:43589794 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.77A>C (p.Lys26Thr)	single nucleotide variant	Inborn genetic diseases [RCV002698921]	Chr6:43629086 [GRCh38] Chr6:43596823 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.546C>T (p.Asp182=)	single nucleotide variant	not provided [RCV003044491]	Chr6:43625522 [GRCh38] Chr6:43593259 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1625A>G (p.His542Arg)	single nucleotide variant	Inborn genetic diseases [RCV002935674]	Chr6:43622010 [GRCh38] Chr6:43589747 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.359T>C (p.Met120Thr)	single nucleotide variant	Inborn genetic diseases [RCV002936539]	Chr6:43626265 [GRCh38] Chr6:43594002 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.129G>A (p.Lys43=)	single nucleotide variant	not provided [RCV002599794]	Chr6:43629034 [GRCh38] Chr6:43596771 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1650C>A (p.Gly550=)	single nucleotide variant	not provided [RCV003010108]	Chr6:43621773 [GRCh38] Chr6:43589510 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1182A>G (p.Pro394=)	single nucleotide variant	not provided [RCV002599592]	Chr6:43623987 [GRCh38] Chr6:43591724 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1468-19G>C	single nucleotide variant	not provided [RCV002646552]	Chr6:43622186 [GRCh38] Chr6:43589923 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1187C>T (p.Thr396Ile)	single nucleotide variant	not provided [RCV002959222]	Chr6:43623982 [GRCh38] Chr6:43591719 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.8C>A (p.Ser3Ter)	single nucleotide variant	Jaberi-Elahi syndrome [RCV002810018]	Chr6:43629155 [GRCh38] Chr6:43596892 [GRCh37] Chr6:6p21.1	pathogenic
NM_019096.5(GTPBP2):c.1400G>C (p.Arg467Pro)	single nucleotide variant	Inborn genetic diseases [RCV002717844]	Chr6:43622700 [GRCh38] Chr6:43590437 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.841G>A (p.Asp281Asn)	single nucleotide variant	Inborn genetic diseases [RCV002835702]	Chr6:43624927 [GRCh38] Chr6:43592664 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.777C>T (p.Ile259=)	single nucleotide variant	not provided [RCV002577455]	Chr6:43624991 [GRCh38] Chr6:43592728 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1236+10T>G	single nucleotide variant	not provided [RCV002899513]	Chr6:43623923 [GRCh38] Chr6:43591660 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1779A>C (p.Ala593=)	single nucleotide variant	not provided [RCV002601508]	Chr6:43621644 [GRCh38] Chr6:43589381 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1673G>A (p.Arg558His)	single nucleotide variant	not provided [RCV002943448]	Chr6:43621750 [GRCh38] Chr6:43589487 [GRCh37] Chr6:6p21.1	benign
NM_019096.5(GTPBP2):c.214-7C>T	single nucleotide variant	not provided [RCV002604165]	Chr6:43626417 [GRCh38] Chr6:43594154 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1548C>T (p.Ala516=)	single nucleotide variant	not provided [RCV003050712]	Chr6:43622087 [GRCh38] Chr6:43589824 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1295+14C>T	single nucleotide variant	not provided [RCV002603808]	Chr6:43623723 [GRCh38] Chr6:43591460 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.361C>G (p.Arg121Gly)	single nucleotide variant	Inborn genetic diseases [RCV002607554]\|not provided [RCV002607553]	Chr6:43626263 [GRCh38] Chr6:43594000 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.13G>T (p.Val5Leu)	single nucleotide variant	Inborn genetic diseases [RCV002724232]	Chr6:43629150 [GRCh38] Chr6:43596887 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1003C>T (p.Arg335Trp)	single nucleotide variant	not provided [RCV002606787]	Chr6:43624607 [GRCh38] Chr6:43592344 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.1633-7G>A	single nucleotide variant	not provided [RCV002608976]	Chr6:43621797 [GRCh38] Chr6:43589534 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.1584C>T (p.His528=)	single nucleotide variant	not provided [RCV002582834]	Chr6:43622051 [GRCh38] Chr6:43589788 [GRCh37] Chr6:6p21.1	likely benign
NM_019096.5(GTPBP2):c.445G>A (p.Asp149Asn)	single nucleotide variant	not provided [RCV002589558]	Chr6:43625818 [GRCh38] Chr6:43593555 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met)	single nucleotide variant	Jaberi-Elahi syndrome [RCV003135494]	Chr6:43624671 [GRCh38] Chr6:43592408 [GRCh37] Chr6:6p21.1	uncertain significance
NM_019096.5(GTPBP2):c.326A>G (p.Asn109Ser)	single nucleotide variant	Inborn genetic diseases [RCV003208092]	Chr6:43626298 [GRCh38] Chr6:43594035 [GRCh37] Chr6:6p21.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3422
Count of miRNA genes:	938
Interacting mature miRNAs:	1154
Transcripts:	ENST00000307114, ENST00000307126, ENST00000419497, ENST00000432918, ENST00000442748, ENST00000452781, ENST00000459959, ENST00000476510, ENST00000480263, ENST00000496137
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

WI-20627

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	43,588,326 - 43,588,552	UniSTS	GRCh37
Build 36	6	43,696,304 - 43,696,530	RGD	NCBI36
Celera	6	45,139,947 - 45,140,173	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
HuRef	6	43,307,501 - 43,307,727	UniSTS
GeneMap99-GB4 RH Map	6	149.3	UniSTS
Whitehead-RH Map	6	247.6	UniSTS
NCBI RH Map	6	663.5	UniSTS

D6S2189

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	43,588,326 - 43,588,458	UniSTS	GRCh37
Build 36	6	43,696,304 - 43,696,436	RGD	NCBI36
Celera	6	45,139,947 - 45,140,079	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
HuRef	6	43,307,501 - 43,307,633	UniSTS
Stanford-G3 RH Map	6	2435.0	UniSTS
NCBI RH Map	6	659.8	UniSTS
GeneMap99-G3 RH Map	6	2567.0	UniSTS

G20859

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	43,588,298 - 43,588,471	UniSTS	GRCh37
Build 36	6	43,696,276 - 43,696,449	RGD	NCBI36
Celera	6	45,139,919 - 45,140,092	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
HuRef	6	43,307,473 - 43,307,646	UniSTS

A006I45

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	43,588,298 - 43,588,471	UniSTS	GRCh37
Build 36	6	43,696,276 - 43,696,449	RGD	NCBI36
Celera	6	45,139,919 - 45,140,092	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
HuRef	6	43,307,473 - 43,307,646	UniSTS
GeneMap99-GB4 RH Map	6	165.72	UniSTS

RH46731

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	43,588,346 - 43,588,518	UniSTS	GRCh37
Build 36	6	43,696,324 - 43,696,496	RGD	NCBI36
Celera	6	45,139,967 - 45,140,139	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
HuRef	6	43,307,521 - 43,307,693	UniSTS
GeneMap99-GB4 RH Map	6	153.36	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2425

2688

1554

458

1882

300

4215

1863

2404

359

1444

1605

171

1204

2649

Low

300

172

165

142

333

1318

139

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_028283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_019096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446477	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB024574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF168990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ420518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL353602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU736981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN263880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000307114 ⟹ ENSP00000304893

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,620,482 - 43,627,353 (-)	Ensembl

RefSeq Acc Id:

ENST00000307126 ⟹ ENSP00000303997

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,620,494 - 43,629,264 (-)	Ensembl

RefSeq Acc Id:

ENST00000419497 ⟹ ENSP00000392944

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,620,490 - 43,622,804 (-)	Ensembl

RefSeq Acc Id:

ENST00000432918 ⟹ ENSP00000398905

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,620,490 - 43,622,804 (-)	Ensembl

RefSeq Acc Id:

ENST00000442748 ⟹ ENSP00000411358

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,624,561 - 43,628,871 (-)	Ensembl

RefSeq Acc Id:

ENST00000452781 ⟹ ENSP00000410676

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,625,363 - 43,629,162 (-)	Ensembl

RefSeq Acc Id:

ENST00000459959

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,622,951 - 43,623,795 (-)	Ensembl

RefSeq Acc Id:

ENST00000476510

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,620,490 - 43,627,017 (-)	Ensembl

RefSeq Acc Id:

ENST00000480263

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,624,614 - 43,625,864 (-)	Ensembl

RefSeq Acc Id:

ENST00000496137 ⟹ ENSP00000436973

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	43,605,316 - 43,622,167 (-)	Ensembl

RefSeq Acc Id:

NM_001286216 ⟹ NP_001273145

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,620,494 - 43,627,341 (-)	NCBI
HuRef	6	43,307,393 - 43,316,158 (-)	NCBI
CHM1_1	6	43,591,281 - 43,598,153 (-)	NCBI
T2T-CHM13v2.0	6	43,449,227 - 43,456,074 (-)	NCBI

Sequence:

show sequence

AGTGACAAAGAAAGGTTTTAACAGCCTGGGCACAGAGGAGACATAGACTTCTGGGAAAAGCAGG
CTGAAGATGGAAACATTGAATATAAATTGAAGCTGGTGAATCCATCCCAGTACCGCTTTGAGCA
CCTGGTGACACAAATGAAGTGGCGGCTCCAGGAGGGACGTGGTGAGGCCGTCTACCAGATTGGG
GTAGAGGACAATGGGCTGCTGGTGGGGCTGGCTGAGGAGGAAATGCGAGCTTCGCTCAAGACCC
TGCACCGGATGGCAGAGAAGGTTGGGGCAGACATAACCGTTCTTCGAGAGCGAGAAGTGGATTA
TGATAGCGACATGCCCCGGAAGATCACCGAGGTGCTAGTACGAAAGGTCCCTGACAACCAACAG
TTCCTAGACCTCCGTGTGGCCGTCCTGGGGAATGTGGACTCTGGGAAGTCAACTCTGCTTGGAG
TCCTGACCCAGGGAGAGCTGGACAATGGGCGGGGCCGGGCTCGGCTCAACCTTTTCCGCCACCT
GCATGAGATTCAGTCTGGCCGAACCTCCAGCATCAGCTTCGAGATCCTGGGCTTTAACAGCAAG
GGAGAGGTGGTGAATTACAGCGACTCACGGACAGCAGAAGAGATCTGTGAGAGCAGCTCCAAGA
TGATCACCTTCATCGACCTGGCAGGCCACCATAAGTACCTACACACCACCATCTTTGGCCTCAC
ATCATACTGCCCCGACTGCGCCCTGCTCCTCGTCAGTGCCAACACTGGGATTGCTGGCACCACA
AGGGAACATCTGGGGCTGGCCCTGGCCCTGAAAGTGCCCTTCTTCATCGTGGTCAGCAAGATCG
ACCTATGTGCCAAGACCACAGTGGAGAGGACAGTACGCCAGCTGGAGCGGGTCCTCAAGCAGCC
TGGCTGCCACAAGGTCCCCATGCTGGTCACCTCTGAGGATGATGCCGTCACTGCTGCCCAGCAG
TTTGCTCAGTCACCCAATGTCACCCCCATCTTCACATTGTCCAGTGTGTCTGGAGAGAGTCTGG
ACCTCCTCAAAGTCTTTCTGAATATTCTGCCGCCACTCACCAACAGCAAAGAGCAGGAGGAACT
CATGCAGCAGCTGACGGAGTTCCAGGTGGATGAAATCTACACAGTACCAGAGGTGGGGACTGTT
GTTGGAGGAACACTTTCCAGTGGGATTTGCCGTGAGGGGGACCAGCTGGTGGTGGGCCCCACGG
ATGATGGCTGCTTCCTGGAGCTGAGAGTATGCAGCATCCAGCGCAACCGCTCTGCCTGTCGTGT
GCTGCGAGCTGGTCAGGCTGCTACACTGGCGCTTGGGGACTTTGACCGTGCACTGCTTCGCAAG
GGCATGGTGATGGTGAGCCCGGAGATGAATCCTACCATCTGCTCGGTGTTTGAGGCAGAGATAG
TCTTACTGTTCCATGCCACCACCTTCCGACGAGGATTCCAGGTGACAGTACACGTGGGCAACGT
ACGTCAGACGGCAGTGGTGGAAAAGATCCATGCCAAGGACAAACTGCGGACAGGCGAGAAGGCA
GTGGTACGTTTCCGCTTCCTGAAACACCCAGAGTACCTGAAGGTGGGCGCCAAACTGCTGTTCC
GGGAGGGTGTCACCAAGGGCATCGGCCATGTCACTGATGTACAAGCCATTACAGCAGGAGAAGC
CCAGGCCAACATGGGCTTCTGAACCCTTCAGGCAGGGACAGTTCTATTGCTGTCCCTACAATAT
ATAAGGTGACTTCTGGCCATGCTGCCCTGCCATTGGCGGCTCTGTGTGTTAATAGGCTAGGGAG
AGAGGGGTGCTGTCTGCCACTTGCTCCCTGCCAACTTTCTGGAGAGGTGCCAAACTTGGTGTGG
CCAGGAAAGGGCAGTCCTGAGGGAGAAGACAGGATTCAGGGCAGTGCTCCGAAGCTGTGTGCTC
ACCTGGTTGGCTCATCAAACCTGGCAACCCTGTGGCCTGTCTGCCGGAGCTGACTGGATCCACT
CATCAATTCTTCGTCCCCACTACTAAGACTGGGCATGTTTTGCTGGTGTGGTCTCTGCACTTCA
GGAATGGTCACAACAGGGGGTAGCCCTCAAAAGCACTCCTTTTTCTATACCTCTTCTCAAGGCC
ATGTAAGTTGCCCATCTCTACCTGGCTGTGGACAAAAGGTTATCTGCTCTTGGCCATCTGGTGG
TGGTGGCGGCCCAGAGTCTGAAGAAATGGCACAGGGACAGTGAATGGTAGTGTTGCCACCCTGT
GCTGAGGCCTGAGGCCTCTTCCTCAGCTTTATCTCCCTTTCCTTCACTCAAGGGCCATTTCCCC
AGTCCCTATCTCCCCCATCCCCTCCCGGCTTATAGGCCCCACAGGTGCTATTTGTTGTGCTGGC
CCAGGCGTGGGGCTACCAAGCAAAGGCTTGGCATATACCAAAGGCCAGCTGCATGCCCATCAGT
CTGGTCTTTTTCCTCTGCGGTCATGTTGGCTTTCATGCTGGATCAAATGTTTTACTTTCCCAGA
CTGGTGGCATCTGAGTTCCCCATCCTACCACTCTCACCCCACTTTCCTGCCCCACCTAAACCCT
CGTTTTAGTAATTTGTAGTGACTGTTCCCTTCCCTCTGTTGCAGGGAACCAGGAGGAAAGGGAA
AGATGTTGCCATATTTCCTACTCTTTAGGCATGGACTCTCCTTTCCCTTTGTTAGTGTCCTGGG
TTCCCATGGACTCAGGGATTTGTTGGCTAAGGTTTCTCTGTGCATATATATATATATACATATG
TATATATATTTAAATACACATATATATTGTACAGAATAAAAATGTTTTATTGAA

hide sequence

RefSeq Acc Id:

NM_019096 ⟹ NP_061969

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,620,494 - 43,629,264 (-)	NCBI
GRCh37	6	43,588,218 - 43,596,977 (-)	NCBI
Build 36	6	43,696,196 - 43,704,914 (-)	NCBI Archive
Celera	6	45,139,839 - 45,148,557 (-)	RGD
HuRef	6	43,307,393 - 43,316,158 (-)	NCBI
CHM1_1	6	43,591,281 - 43,600,046 (-)	NCBI
T2T-CHM13v2.0	6	43,449,227 - 43,457,997 (-)	NCBI

Sequence:

show sequence

ACTCTGCTCAGGCCGGCCGGACACGGCAGTGGCAGTAAGGGCGGCGGCGACGGCGGCGGCGGTC
GGGGGAGGGGCCGGGCGGGGGGCTGGCGGCAGCGGCGGATGGACTCGCGGGTATCGGAGCTGTT
CGGCGGCTGCTGCCGGCCCGGAGGGGGCCCGGCCGTGGGCGGAACCCTCAAGGCTAGGGGGGCC
GGCAGCAGCAGCGGCTGCGGGGGGCCAAAGGGAAAGAAGAAGAACGGAAGGAACAGAGGGGGCA
AAGCCAACAACCCCCCGTATTTGCCCCCCGAGGCTGAAGATGGAAACATTGAATATAAATTGAA
GCTGGTGAATCCATCCCAGTACCGCTTTGAGCACCTGGTGACACAAATGAAGTGGCGGCTCCAG
GAGGGACGTGGTGAGGCCGTCTACCAGATTGGGGTAGAGGACAATGGGCTGCTGGTGGGGCTGG
CTGAGGAGGAAATGCGAGCTTCGCTCAAGACCCTGCACCGGATGGCAGAGAAGGTTGGGGCAGA
CATAACCGTTCTTCGAGAGCGAGAAGTGGATTATGATAGCGACATGCCCCGGAAGATCACCGAG
GTGCTAGTACGAAAGGTCCCTGACAACCAACAGTTCCTAGACCTCCGTGTGGCCGTCCTGGGGA
ATGTGGACTCTGGGAAGTCAACTCTGCTTGGAGTCCTGACCCAGGGAGAGCTGGACAATGGGCG
GGGCCGGGCTCGGCTCAACCTTTTCCGCCACCTGCATGAGATTCAGTCTGGCCGAACCTCCAGC
ATCAGCTTCGAGATCCTGGGCTTTAACAGCAAGGGAGAGGTGGTGAATTACAGCGACTCACGGA
CAGCAGAAGAGATCTGTGAGAGCAGCTCCAAGATGATCACCTTCATCGACCTGGCAGGCCACCA
TAAGTACCTACACACCACCATCTTTGGCCTCACATCATACTGCCCCGACTGCGCCCTGCTCCTC
GTCAGTGCCAACACTGGGATTGCTGGCACCACAAGGGAACATCTGGGGCTGGCCCTGGCCCTGA
AAGTGCCCTTCTTCATCGTGGTCAGCAAGATCGACCTATGTGCCAAGACCACAGTGGAGAGGAC
AGTACGCCAGCTGGAGCGGGTCCTCAAGCAGCCTGGCTGCCACAAGGTCCCCATGCTGGTCACC
TCTGAGGATGATGCCGTCACTGCTGCCCAGCAGTTTGCTCAGTCACCCAATGTCACCCCCATCT
TCACATTGTCCAGTGTGTCTGGAGAGAGTCTGGACCTCCTCAAAGTCTTTCTGAATATTCTGCC
GCCACTCACCAACAGCAAAGAGCAGGAGGAACTCATGCAGCAGCTGACGGAGTTCCAGGTGGAT
GAAATCTACACAGTACCAGAGGTGGGGACTGTTGTTGGAGGAACACTTTCCAGTGGGATTTGCC
GTGAGGGGGACCAGCTGGTGGTGGGCCCCACGGATGATGGCTGCTTCCTGGAGCTGAGAGTATG
CAGCATCCAGCGCAACCGCTCTGCCTGTCGTGTGCTGCGAGCTGGTCAGGCTGCTACACTGGCG
CTTGGGGACTTTGACCGTGCACTGCTTCGCAAGGGCATGGTGATGGTGAGCCCGGAGATGAATC
CTACCATCTGCTCGGTGTTTGAGGCAGAGATAGTCTTACTGTTCCATGCCACCACCTTCCGACG
AGGATTCCAGGTGACAGTACACGTGGGCAACGTACGTCAGACGGCAGTGGTGGAAAAGATCCAT
GCCAAGGACAAACTGCGGACAGGCGAGAAGGCAGTGGTACGTTTCCGCTTCCTGAAACACCCAG
AGTACCTGAAGGTGGGCGCCAAACTGCTGTTCCGGGAGGGTGTCACCAAGGGCATCGGCCATGT
CACTGATGTACAAGCCATTACAGCAGGAGAAGCCCAGGCCAACATGGGCTTCTGAACCCTTCAG
GCAGGGACAGTTCTATTGCTGTCCCTACAATATATAAGGTGACTTCTGGCCATGCTGCCCTGCC
ATTGGCGGCTCTGTGTGTTAATAGGCTAGGGAGAGAGGGGTGCTGTCTGCCACTTGCTCCCTGC
CAACTTTCTGGAGAGGTGCCAAACTTGGTGTGGCCAGGAAAGGGCAGTCCTGAGGGAGAAGACA
GGATTCAGGGCAGTGCTCCGAAGCTGTGTGCTCACCTGGTTGGCTCATCAAACCTGGCAACCCT
GTGGCCTGTCTGCCGGAGCTGACTGGATCCACTCATCAATTCTTCGTCCCCACTACTAAGACTG
GGCATGTTTTGCTGGTGTGGTCTCTGCACTTCAGGAATGGTCACAACAGGGGGTAGCCCTCAAA
AGCACTCCTTTTTCTATACCTCTTCTCAAGGCCATGTAAGTTGCCCATCTCTACCTGGCTGTGG
ACAAAAGGTTATCTGCTCTTGGCCATCTGGTGGTGGTGGCGGCCCAGAGTCTGAAGAAATGGCA
CAGGGACAGTGAATGGTAGTGTTGCCACCCTGTGCTGAGGCCTGAGGCCTCTTCCTCAGCTTTA
TCTCCCTTTCCTTCACTCAAGGGCCATTTCCCCAGTCCCTATCTCCCCCATCCCCTCCCGGCTT
ATAGGCCCCACAGGTGCTATTTGTTGTGCTGGCCCAGGCGTGGGGCTACCAAGCAAAGGCTTGG
CATATACCAAAGGCCAGCTGCATGCCCATCAGTCTGGTCTTTTTCCTCTGCGGTCATGTTGGCT
TTCATGCTGGATCAAATGTTTTACTTTCCCAGACTGGTGGCATCTGAGTTCCCCATCCTACCAC
TCTCACCCCACTTTCCTGCCCCACCTAAACCCTCGTTTTAGTAATTTGTAGTGACTGTTCCCTT
CCCTCTGTTGCAGGGAACCAGGAGGAAAGGGAAAGATGTTGCCATATTTCCTACTCTTTAGGCA
TGGACTCTCCTTTCCCTTTGTTAGTGTCCTGGGTTCCCATGGACTCAGGGATTTGTTGGCTAAG
GTTTCTCTGTGCATATATATATATATACATATGTATATATATTTAAATACACATATATATTGTA
CAGAATAAAAATGTTTTATTGAA

hide sequence

RefSeq Acc Id:

XM_024446476 ⟹ XP_024302244

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,620,494 - 43,631,333 (-)	NCBI

Sequence:

show sequence

TAAGCAGCAGTTTCCCTAGTAGGCCTGTGCCCCTGGCTAGCATTGACCTCTACGGCATAACCTT
TCCTTCAGTGGCACAGGACTAAGAAAAGTCACATGTGCTTTCAACCACTGAAGACCCACATAAT
TGGCCTATGGTCAGCTAGGCCCTTTTGCAGATTTTGGTCTCTCTGCTCTCACTGCTTTGGGAAA
TTATGCTATGTGGACAGCATGATCAGTAAACCTGCCTCCCTCCTTGTGGCCCTGGGAGGAAGCC
ATGGACTCTACCAAGTCTGAACCCCTGAAGGGATCACCAGAGGCTGAAGATGGAAACATTGAAT
ATAAATTGAAGCTGGTGAATCCATCCCAGTACCGCTTTGAGCACCTGGTGACACAAATGAAGTG
GCGGCTCCAGGAGGGACGTGGTGAGGCCGTCTACCAGATTGGGGTAGAGGACAATGGGCTGCTG
GTGGGGCTGGCTGAGGAGGAAATGCGAGCTTCGCTCAAGACCCTGCACCGGATGGCAGAGAAGG
TTGGGGCAGACATAACCGTTCTTCGAGAGCGAGAAGTGGATTATGATAGCGACATGCCCCGGAA
GATCACCGAGGTGCTAGTACGAAAGGTCCCTGACAACCAACAGTTCCTAGACCTCCGTGTGGCC
GTCCTGGGGAATGTGGACTCTGGGAAGTCAACTCTGCTTGGAGTCCTGACCCAGGGAGAGCTGG
ACAATGGGCGGGGCCGGGCTCGGCTCAACCTTTTCCGCCACCTGCATGAGATTCAGTCTGGCCG
AACCTCCAGCATCAGCTTCGAGATCCTGGGCTTTAACAGCAAGGGAGAGGTGGTGAATTACAGC
GACTCACGGACAGCAGAAGAGATCTGTGAGAGCAGCTCCAAGATGATCACCTTCATCGACCTGG
CAGGCCACCATAAGTACCTACACACCACCATCTTTGGCCTCACATCATACTGCCCCGACTGCGC
CCTGCTCCTCGTCAGTGCCAACACTGGGATTGCTGGCACCACAAGGGAACATCTGGGGCTGGCC
CTGGCCCTGAAAGTGCCCTTCTTCATCGTGGTCAGCAAGATCGACCTATGTGCCAAGACCACAG
TGGAGAGGACAGTACGCCAGCTGGAGCGGGTCCTCAAGCAGCCTGGCTGCCACAAGGTCCCCAT
GCTGGTCACCTCTGAGGATGATGCCGTCACTGCTGCCCAGCAGTTTGCTCAGTCACCCAATGTC
ACCCCCATCTTCACATTGTCCAGTGTGTCTGGAGAGAGTCTGGACCTCCTCAAAGTCTTTCTGA
ATATTCTGCCGCCACTCACCAACAGCAAAGAGCAGGAGGAACTCATGCAGCAGCTGACGGAGTT
CCAGGTGGATGAAATCTACACAGTACCAGAGGTGGGGACTGTTGTTGGAGGAACACTTTCCAGT
GGGATTTGCCGTGAGGGGGACCAGCTGGTGGTGGGCCCCACGGATGATGGCTGCTTCCTGGAGC
TGAGAGTATGCAGCATCCAGCGCAACCGCTCTGCCTGTCGTGTGCTGCGAGCTGGTCAGGCTGC
TACACTGGCGCTTGGGGACTTTGACCGTGCACTGCTTCGCAAGGGCATGGTGATGGTGAGCCCG
GAGATGAATCCTACCATCTGCTCGGTGTTTGAGGCAGAGATAGTCTTACTGTTCCATGCCACCA
CCTTCCGACGAGGATTCCAGGTGACAGTACACGTGGGCAACGTACGTCAGACGGCAGTGGTGGA
AAAGATCCATGCCAAGGACAAACTGCGGACAGGCGAGAAGGCAGTGGTACGTTTCCGCTTCCTG
AAACACCCAGAGTACCTGAAGGTGGGCGCCAAACTGCTGTTCCGGGAGGGTGTCACCAAGGGCA
TCGGCCATGTCACTGATGTACAAGCCATTACAGCAGGAGAAGCCCAGGCCAACATGGGCTTCTG
AACCCTTCAGGCAGGGACAGTTCTATTGCTGTCCCTACAATATATAAGGTGACTTCTGGCCATG
CTGCCCTGCCATTGGCGGCTCTGTGTGTTAATAGGCTAGGGAGAGAGGGGTGCTGTCTGCCACT
TGCTCCCTGCCAACTTTCTGGAGAGGTGCCAAACTTGGTGTGGCCAGGAAAGGGCAGTCCTGAG
GGAGAAGACAGGATTCAGGGCAGTGCTCCGAAGCTGTGTGCTCACCTGGTTGGCTCATCAAACC
TGGCAACCCTGTGGCCTGTCTGCCGGAGCTGACTGGATCCACTCATCAATTCTTCGTCCCCACT
ACTAAGACTGGGCATGTTTTGCTGGTGTGGTCTCTGCACTTCAGGAATGGTCACAACAGGGGGT
AGCCCTCAAAAGCACTCCTTTTTCTATACCTCTTCTCAAGGCCATGTAAGTTGCCCATCTCTAC
CTGGCTGTGGACAAAAGGTTATCTGCTCTTGGCCATCTGGTGGTGGTGGCGGCCCAGAGTCTGA
AGAAATGGCACAGGGACAGTGAATGGTAGTGTTGCCACCCTGTGCTGAGGCCTGAGGCCTCTTC
CTCAGCTTTATCTCCCTTTCCTTCACTCAAGGGCCATTTCCCCAGTCCCTATCTCCCCCATCCC
CTCCCGGCTTATAGGCCCCACAGGTGCTATTTGTTGTGCTGGCCCAGGCGTGGGGCTACCAAGC
AAAGGCTTGGCATATACCAAAGGCCAGCTGCATGCCCATCAGTCTGGTCTTTTTCCTCTGCGGT
CATGTTGGCTTTCATGCTGGATCAAATGTTTTACTTTCCCAGACTGGTGGCATCTGAGTTCCCC
ATCCTACCACTCTCACCCCACTTTCCTGCCCCACCTAAACCCTCGTTTTAGTAATTTGTAGTGA
CTGTTCCCTTCCCTCTGTTGCAGGGAACCAGGAGGAAAGGGAAAGATGTTGCCATATTTCCTAC
TCTTTAGGCATGGACTCTCCTTTCCCTTTGTTAGTGTCCTGGGTTCCCATGGACTCAGGGATTT
GTTGGCTAAGGTTTCTCTGTGCATATATATATATATACATATGTATATATATTTAAATACACAT
ATATATTGTACAGAATAAAAATGTTTTATTGAATA

hide sequence

RefSeq Acc Id:

XM_024446477 ⟹ XP_024302245

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,620,494 - 43,628,916 (-)	NCBI

Sequence:

show sequence

CAGATAATTAATCTCCCCTTCCGGTGTCGAGACCCCAGGGAGGAGGGGCACGGGAGGAGAACAC
CTCTTTCAGGTCCCGGGACCCCAGGGAGGAAGGGCAGAGACTGGACTCTCAGGCTGAAGATGGA
AACATTGAATATAAATTGAAGCTGGTGAATCCATCCCAGTACCGCTTTGAGCACCTGGTGACAC
AAATGAAGTGGCGGCTCCAGGAGGGACGTGGTGAGGCCGTCTACCAGATTGGGGTAGAGGACAA
TGGGCTGCTGGTGGGGCTGGCTGAGGAGGAAATGCGAGCTTCGCTCAAGACCCTGCACCGGATG
GCAGAGAAGGTTGGGGCAGACATAACCGTTCTTCGAGAGCGAGAAGTGGATTATGATAGCGACA
TGCCCCGGAAGATCACCGAGGTGCTAGTACGAAAGGTCCCTGACAACCAACAGTTCCTAGACCT
CCGTGTGGCCGTCCTGGGGAATGTGGACTCTGGGAAGTCAACTCTGCTTGGAGTCCTGACCCAG
GGAGAGCTGGACAATGGGCGGGGCCGGGCTCGGCTCAACCTTTTCCGCCACCTGCATGAGATTC
AGTCTGGCCGAACCTCCAGCATCAGCTTCGAGATCCTGGGCTTTAACAGCAAGGGAGAGGTGGT
GAATTACAGCGACTCACGGACAGCAGAAGAGATCTGTGAGAGCAGCTCCAAGATGATCACCTTC
ATCGACCTGGCAGGCCACCATAAGTACCTACACACCACCATCTTTGGCCTCACATCATACTGCC
CCGACTGCGCCCTGCTCCTCGTCAGTGCCAACACTGGGATTGCTGGCACCACAAGGGAACATCT
GGGGCTGGCCCTGGCCCTGAAAGTGCCCTTCTTCATCGTGGTCAGCAAGATCGACCTATGTGCC
AAGACCACAGTGGAGAGGACAGTACGCCAGCTGGAGCGGGTCCTCAAGCAGCCTGGCTGCCACA
AGGTCCCCATGCTGGTCACCTCTGAGGATGATGCCGTCACTGCTGCCCAGCAGTTTGCTCAGTC
ACCCAATGTCACCCCCATCTTCACATTGTCCAGTGTGTCTGGAGAGAGTCTGGACCTCCTCAAA
GTCTTTCTGAATATTCTGCCGCCACTCACCAACAGCAAAGAGCAGGAGGAACTCATGCAGCAGC
TGACGGAGTTCCAGGTGGATGAAATCTACACAGTACCAGAGGTGGGGACTGTTGTTGGAGGAAC
ACTTTCCAGTGGGATTTGCCGTGAGGGGGACCAGCTGGTGGTGGGCCCCACGGATGATGGCTGC
TTCCTGGAGCTGAGAGTATGCAGCATCCAGCGCAACCGCTCTGCCTGTCGTGTGCTGCGAGCTG
GTCAGGCTGCTACACTGGCGCTTGGGGACTTTGACCGTGCACTGCTTCGCAAGGGCATGGTGAT
GGTGAGCCCGGAGATGAATCCTACCATCTGCTCGGTGTTTGAGGCAGAGATAGTCTTACTGTTC
CATGCCACCACCTTCCGACGAGGATTCCAGGTGACAGTACACGTGGGCAACGTACGTCAGACGG
CAGTGGTGGAAAAGATCCATGCCAAGGACAAACTGCGGACAGGCGAGAAGGCAGTGGTACGTTT
CCGCTTCCTGAAACACCCAGAGTACCTGAAGGTGGGCGCCAAACTGCTGTTCCGGGAGGGTGTC
ACCAAGGGCATCGGCCATGTCACTGATGTACAAGCCATTACAGCAGGAGAAGCCCAGGCCAACA
TGGGCTTCTGAACCCTTCAGGCAGGGACAGTTCTATTGCTGTCCCTACAATATATAAGGTGACT
TCTGGCCATGCTGCCCTGCCATTGGCGGCTCTGTGTGTTAATAGGCTAGGGAGAGAGGGGTGCT
GTCTGCCACTTGCTCCCTGCCAACTTTCTGGAGAGGTGCCAAACTTGGTGTGGCCAGGAAAGGG
CAGTCCTGAGGGAGAAGACAGGATTCAGGGCAGTGCTCCGAAGCTGTGTGCTCACCTGGTTGGC
TCATCAAACCTGGCAACCCTGTGGCCTGTCTGCCGGAGCTGACTGGATCCACTCATCAATTCTT
CGTCCCCACTACTAAGACTGGGCATGTTTTGCTGGTGTGGTCTCTGCACTTCAGGAATGGTCAC
AACAGGGGGTAGCCCTCAAAAGCACTCCTTTTTCTATACCTCTTCTCAAGGCCATGTAAGTTGC
CCATCTCTACCTGGCTGTGGACAAAAGGTTATCTGCTCTTGGCCATCTGGTGGTGGTGGCGGCC
CAGAGTCTGAAGAAATGGCACAGGGACAGTGAATGGTAGTGTTGCCACCCTGTGCTGAGGCCTG
AGGCCTCTTCCTCAGCTTTATCTCCCTTTCCTTCACTCAAGGGCCATTTCCCCAGTCCCTATCT
CCCCCATCCCCTCCCGGCTTATAGGCCCCACAGGTGCTATTTGTTGTGCTGGCCCAGGCGTGGG
GCTACCAAGCAAAGGCTTGGCATATACCAAAGGCCAGCTGCATGCCCATCAGTCTGGTCTTTTT
CCTCTGCGGTCATGTTGGCTTTCATGCTGGATCAAATGTTTTACTTTCCCAGACTGGTGGCATC
TGAGTTCCCCATCCTACCACTCTCACCCCACTTTCCTGCCCCACCTAAACCCTCGTTTTAGTAA
TTTGTAGTGACTGTTCCCTTCCCTCTGTTGCAGGGAACCAGGAGGAAAGGGAAAGATGTTGCCA
TATTTCCTACTCTTTAGGCATGGACTCTCCTTTCCCTTTGTTAGTGTCCTGGGTTCCCATGGAC
TCAGGGATTTGTTGGCTAAGGTTTCTCTGTGCATATATATATATATACATATGTATATATATTT
AAATACACATATATATTGTACAGAATAAAAATGTTTTATTGAATA

hide sequence

RefSeq Acc Id:

XM_024446478 ⟹ XP_024302246

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,620,494 - 43,629,264 (-)	NCBI

Sequence:

show sequence

GTGGGGGGCGTAGCTTGTGCAGAGCCCCACCCCACTCTGCTCAGGCCGGCCGGACACGGCAGTG
GCAGCTGAAGATGGAAACATTGAATATAAATTGAAGCTGGTGAATCCATCCCAGTACCGCTTTG
AGCACCTGGTGACACAAATGAAGTGGCGGCTCCAGGAGGGACGTGGTGAGGCCGTCTACCAGAT
TGGGGTAGAGGACAATGGGCTGCTGGTGGGGCTGGCTGAGGAGGAAATGCGAGCTTCGCTCAAG
ACCCTGCACCGGATGGCAGAGAAGGTTGGGGCAGACATAACCGTTCTTCGAGAGCGAGAAGTGG
ATTATGATAGCGACATGCCCCGGAAGATCACCGAGGTGCTAGTACGAAAGGTCCCTGACAACCA
ACAGTTCCTAGACCTCCGTGTGGCCGTCCTGGGGAATGTGGACTCTGGGAAGTCAACTCTGCTT
GGAGTCCTGACCCAGGGAGAGCTGGACAATGGGCGGGGCCGGGCTCGGCTCAACCTTTTCCGCC
ACCTGCATGAGATTCAGTCTGGCCGAACCTCCAGCATCAGCTTCGAGATCCTGGGCTTTAACAG
CAAGGGAGAGGTGGTGAATTACAGCGACTCACGGACAGCAGAAGAGATCTGTGAGAGCAGCTCC
AAGATGATCACCTTCATCGACCTGGCAGGCCACCATAAGTACCTACACACCACCATCTTTGGCC
TCACATCATACTGCCCCGACTGCGCCCTGCTCCTCGTCAGTGCCAACACTGGGATTGCTGGCAC
CACAAGGGAACATCTGGGGCTGGCCCTGGCCCTGAAAGTGCCCTTCTTCATCGTGGTCAGCAAG
ATCGACCTATGTGCCAAGACCACAGTGGAGAGGACAGTACGCCAGCTGGAGCGGGTCCTCAAGC
AGCCTGGCTGCCACAAGGTCCCCATGCTGGTCACCTCTGAGGATGATGCCGTCACTGCTGCCCA
GCAGTTTGCTCAGTCACCCAATGTCACCCCCATCTTCACATTGTCCAGTGTGTCTGGAGAGAGT
CTGGACCTCCTCAAAGTCTTTCTGAATATTCTGCCGCCACTCACCAACAGCAAAGAGCAGGAGG
AACTCATGCAGCAGCTGACGGAGTTCCAGGTGGATGAAATCTACACAGTACCAGAGGTGGGGAC
TGTTGTTGGAGGAACACTTTCCAGTGGGATTTGCCGTGAGGGGGACCAGCTGGTGGTGGGCCCC
ACGGATGATGGCTGCTTCCTGGAGCTGAGAGTATGCAGCATCCAGCGCAACCGCTCTGCCTGTC
GTGTGCTGCGAGCTGGTCAGGCTGCTACACTGGCGCTTGGGGACTTTGACCGTGCACTGCTTCG
CAAGGGCATGGTGATGGTGAGCCCGGAGATGAATCCTACCATCTGCTCGGTGTTTGAGGCAGAG
ATAGTCTTACTGTTCCATGCCACCACCTTCCGACGAGGATTCCAGGTGACAGTACACGTGGGCA
ACGTACGTCAGACGGCAGTGGTGGAAAAGATCCATGCCAAGGACAAACTGCGGACAGGCGAGAA
GGCAGTGGTACGTTTCCGCTTCCTGAAACACCCAGAGTACCTGAAGGTGGGCGCCAAACTGCTG
TTCCGGGAGGGTGTCACCAAGGGCATCGGCCATGTCACTGATGTACAAGCCATTACAGCAGGAG
AAGCCCAGGCCAACATGGGCTTCTGAACCCTTCAGGCAGGGACAGTTCTATTGCTGTCCCTACA
ATATATAAGGTGACTTCTGGCCATGCTGCCCTGCCATTGGCGGCTCTGTGTGTTAATAGGCTAG
GGAGAGAGGGGTGCTGTCTGCCACTTGCTCCCTGCCAACTTTCTGGAGAGGTGCCAAACTTGGT
GTGGCCAGGAAAGGGCAGTCCTGAGGGAGAAGACAGGATTCAGGGCAGTGCTCCGAAGCTGTGT
GCTCACCTGGTTGGCTCATCAAACCTGGCAACCCTGTGGCCTGTCTGCCGGAGCTGACTGGATC
CACTCATCAATTCTTCGTCCCCACTACTAAGACTGGGCATGTTTTGCTGGTGTGGTCTCTGCAC
TTCAGGAATGGTCACAACAGGGGGTAGCCCTCAAAAGCACTCCTTTTTCTATACCTCTTCTCAA
GGCCATGTAAGTTGCCCATCTCTACCTGGCTGTGGACAAAAGGTTATCTGCTCTTGGCCATCTG
GTGGTGGTGGCGGCCCAGAGTCTGAAGAAATGGCACAGGGACAGTGAATGGTAGTGTTGCCACC
CTGTGCTGAGGCCTGAGGCCTCTTCCTCAGCTTTATCTCCCTTTCCTTCACTCAAGGGCCATTT
CCCCAGTCCCTATCTCCCCCATCCCCTCCCGGCTTATAGGCCCCACAGGTGCTATTTGTTGTGC
TGGCCCAGGCGTGGGGCTACCAAGCAAAGGCTTGGCATATACCAAAGGCCAGCTGCATGCCCAT
CAGTCTGGTCTTTTTCCTCTGCGGTCATGTTGGCTTTCATGCTGGATCAAATGTTTTACTTTCC
CAGACTGGTGGCATCTGAGTTCCCCATCCTACCACTCTCACCCCACTTTCCTGCCCCACCTAAA
CCCTCGTTTTAGTAATTTGTAGTGACTGTTCCCTTCCCTCTGTTGCAGGGAACCAGGAGGAAAG
GGAAAGATGTTGCCATATTTCCTACTCTTTAGGCATGGACTCTCCTTTCCCTTTGTTAGTGTCC
TGGGTTCCCATGGACTCAGGGATTTGTTGGCTAAGGTTTCTCTGTGCATATATATATATATACA
TATGTATATATATTTAAATACACATATATATTGTACAGAATAAAAATGTTTTATTGAATA

hide sequence

RefSeq Acc Id:

XM_047418938 ⟹ XP_047274894

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,620,494 - 43,629,264 (-)	NCBI

RefSeq Acc Id:

XM_054355729 ⟹ XP_054211704

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	43,449,227 - 43,460,058 (-)	NCBI

RefSeq Acc Id:

XM_054355730 ⟹ XP_054211705

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	43,449,227 - 43,457,997 (-)	NCBI

RefSeq Acc Id:

XM_054355731 ⟹ XP_054211706

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	43,449,227 - 43,457,649 (-)	NCBI

RefSeq Acc Id:

XM_054355732 ⟹ XP_054211707

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	43,449,227 - 43,457,983 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001273145	(Get FASTA)	NCBI Sequence Viewer
	NP_061969	(Get FASTA)	NCBI Sequence Viewer
	XP_024302244	(Get FASTA)	NCBI Sequence Viewer
	XP_024302245	(Get FASTA)	NCBI Sequence Viewer
	XP_024302246	(Get FASTA)	NCBI Sequence Viewer
	XP_047274894	(Get FASTA)	NCBI Sequence Viewer
	XP_054211704	(Get FASTA)	NCBI Sequence Viewer
	XP_054211705	(Get FASTA)	NCBI Sequence Viewer
	XP_054211706	(Get FASTA)	NCBI Sequence Viewer
	XP_054211707	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF78884	(Get FASTA)	NCBI Sequence Viewer
	AAH20980	(Get FASTA)	NCBI Sequence Viewer
	AAH28347	(Get FASTA)	NCBI Sequence Viewer
	AAH64968	(Get FASTA)	NCBI Sequence Viewer
	BAA91160	(Get FASTA)	NCBI Sequence Viewer
	BAB12431	(Get FASTA)	NCBI Sequence Viewer
	BAF82956	(Get FASTA)	NCBI Sequence Viewer
	CAD38999	(Get FASTA)	NCBI Sequence Viewer
	EAX04213	(Get FASTA)	NCBI Sequence Viewer
	EAX04214	(Get FASTA)	NCBI Sequence Viewer
	EAX04215	(Get FASTA)	NCBI Sequence Viewer
	EAX04216	(Get FASTA)	NCBI Sequence Viewer
	EAX04217	(Get FASTA)	NCBI Sequence Viewer
	EAX04218	(Get FASTA)	NCBI Sequence Viewer
	Q9BX10	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_061969 ⟸ NM_019096
- Peptide Label:	isoform a
- UniProtKB:	Q9NX60 (UniProtKB/Swiss-Prot), Q9BX10 (UniProtKB/Swiss-Prot), A0A024RD30 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLPPEAE DGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLH RMAEKVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVL TQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYSDSRTAEEICESSSKMI TFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDL CAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDL LKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDD GCFLELRVCSIQRNRSACRVLRAGQAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEAEIVL LFHATTFRRGFQVTVHVGNVRQTAVVEKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFRE GVTKGIGHVTDVQAITAGEAQANMGF hide sequence

RefSeq Acc Id:	NP_001273145 ⟸ NM_001286216
- Peptide Label:	isoform b
- UniProtKB:	Q9BX10 (UniProtKB/Swiss-Prot), A8K2K2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDM PRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQ SGRTSSISFEILGFNSKGEVVNYSDSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCP DCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHK VPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQL TEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAG QAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTA VVEKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM GF hide sequence

RefSeq Acc Id:

XP_024302244 ⟸ XM_024446476

- Peptide Label:

isoform X1

- Sequence:

show sequence

MDSTKSEPLKGSPEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLL
VGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVA
VLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYS
DSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREHLGLA
LALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQQFAQSPNV
TPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVPEVGTVVGGTLSS
GICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALGDFDRALLRKGMVMVSP
EMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEKIHAKDKLRTGEKAVVRFRFL
KHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANMGF

hide sequence

RefSeq Acc Id:

XP_024302246 ⟸ XM_024446478

- Peptide Label:

isoform X3

- Sequence:

show sequence

MKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDM
PRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQ
SGRTSSISFEILGFNSKGEVVNYSDSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCP
DCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHK
VPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQL
TEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAG
QAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTA
VVEKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
GF

hide sequence

RefSeq Acc Id:

XP_024302245 ⟸ XM_024446477

- Peptide Label:

isoform X3

- Sequence:

show sequence

MKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDM
PRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQ
SGRTSSISFEILGFNSKGEVVNYSDSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCP
DCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHK
VPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQL
TEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAG
QAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTA
VVEKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
GF

hide sequence

RefSeq Acc Id:

ENSP00000303997 ⟸ ENST00000307126

RefSeq Acc Id:

ENSP00000304893 ⟸ ENST00000307114

RefSeq Acc Id:

ENSP00000410676 ⟸ ENST00000452781

RefSeq Acc Id:

ENSP00000411358 ⟸ ENST00000442748

RefSeq Acc Id:

ENSP00000436973 ⟸ ENST00000496137

RefSeq Acc Id:

ENSP00000392944 ⟸ ENST00000419497

RefSeq Acc Id:

ENSP00000398905 ⟸ ENST00000432918

RefSeq Acc Id:	XP_047274894 ⟸ XM_047418938
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054211704 ⟸ XM_054355729
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054211705 ⟸ XM_054355730
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054211707 ⟸ XM_054355732
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054211706 ⟸ XM_054355731
- Peptide Label:	isoform X3

Protein Domains

tr-type G

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BX10-F1-model_v2	AlphaFold	Q9BX10	1-602	view protein structure

Promoters

RGD ID:

7208153

Promoter ID:

EPDNEW_H9823

Type:

initiation region

Name:

GTPBP2_1

Description:

GTP binding protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9825 EPDNEW_H9826 EPDNEW_H9833

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,629,264 - 43,629,324	EPDNEW

RGD ID:

7208157

Promoter ID:

EPDNEW_H9825

Type:

initiation region

Name:

GTPBP2_3

Description:

GTP binding protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9823 EPDNEW_H9826 EPDNEW_H9833

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,630,031 - 43,630,091	EPDNEW

RGD ID:

7208161

Promoter ID:

EPDNEW_H9826

Type:

initiation region

Name:

GTPBP2_2

Description:

GTP binding protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9823 EPDNEW_H9825 EPDNEW_H9833

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	43,631,330 - 43,631,390	EPDNEW

RGD ID:

6804278

Promoter ID:

HG_KWN:53667

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000040671, OTTHUMT00000040672, OTTHUMT00000040673

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	43,697,816 - 43,698,627 (-)	MPROMDB

RGD ID:

6804279

Promoter ID:

HG_KWN:53668

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000040675, OTTHUMT00000040676

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	43,699,486 - 43,700,687 (-)	MPROMDB

RGD ID:

6804280

Promoter ID:

HG_KWN:53669

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

ENST00000393882, OTTHUMT00000040678

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	43,701,486 - 43,702,082 (-)	MPROMDB

RGD ID:

6804276

Promoter ID:

HG_KWN:53670

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000040669, OTTHUMT00000040670, UC010JYV.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	43,702,866 - 43,703,366 (-)	MPROMDB

RGD ID:

6804429

Promoter ID:

HG_KWN:53671

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000307114, ENST00000372177, NM_001003690, NM_019096, OTTHUMT00000040674, OTTHUMT00000040677, UC003OVT.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	43,704,481 - 43,705,902 (+)	MPROMDB

RGD ID:

6812972

Promoter ID:

HG_ACW:68546

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

GTPBP2.KAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	43,706,781 - 43,707,281 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4670	AgrOrtholog
COSMIC	GTPBP2	COSMIC
Ensembl Genes	ENSG00000172432	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000303997	ENTREZGENE
	ENSP00000303997.5	UniProtKB/Swiss-Prot
	ENSP00000304893	ENTREZGENE
	ENSP00000304893.7	UniProtKB/Swiss-Prot
	ENSP00000392944.1	UniProtKB/TrEMBL
	ENSP00000398905.1	UniProtKB/TrEMBL
	ENSP00000410676.1	UniProtKB/TrEMBL
	ENSP00000411358.1	UniProtKB/TrEMBL
	ENSP00000436973.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000307114	ENTREZGENE
	ENST00000307114.11	UniProtKB/Swiss-Prot
	ENST00000307126	ENTREZGENE
	ENST00000307126.10	UniProtKB/Swiss-Prot
	ENST00000419497.5	UniProtKB/TrEMBL
	ENST00000432918.5	UniProtKB/TrEMBL
	ENST00000442748.5	UniProtKB/TrEMBL
	ENST00000452781.1	UniProtKB/TrEMBL
	ENST00000476510	ENTREZGENE
	ENST00000496137.5	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Translation factors	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000172432	GTEx
HGNC ID	HGNC:4670	ENTREZGENE
Human Proteome Map	GTPBP2	Human Proteome Map
InterPro	GTPBP1-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TF_GTP-bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Transl_B-barrel_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Transl_elong_EF1A/Init_IF2_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:54676	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	54676	ENTREZGENE
OMIM	607434	OMIM
PANTHER	ELONGATION FACTOR TU-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GTP-BINDING PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	GTP_EFTU	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA29058	PharmGKB
PROSITE	G_TR_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50447	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50465	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024RD30	ENTREZGENE, UniProtKB/TrEMBL
	A8K2K2	ENTREZGENE, UniProtKB/TrEMBL
	GTPB2_HUMAN	UniProtKB/Swiss-Prot
	H0Y4M5_HUMAN	UniProtKB/TrEMBL
	H0Y5J1_HUMAN	UniProtKB/TrEMBL
	H0Y7A5_HUMAN	UniProtKB/TrEMBL
	H0YF05_HUMAN	UniProtKB/TrEMBL
	Q9BX10	ENTREZGENE
	Q9NX60	ENTREZGENE
	X6RJ09_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	Q5T7E8	UniProtKB/Swiss-Prot
	Q8ND84	UniProtKB/Swiss-Prot
	Q8TAH7	UniProtKB/Swiss-Prot
	Q8WUA5	UniProtKB/Swiss-Prot
	Q9HCS9	UniProtKB/Swiss-Prot
	Q9NRU4	UniProtKB/Swiss-Prot
	Q9NX60	UniProtKB/Swiss-Prot

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

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

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

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

Imported Disease Annotations - ClinVar

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Imported Disease Annotations - OMIM

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