NFXL1 (nuclear transcription factor, X-box binding like 1)

Advanced Search (OLGA)

Gene: NFXL1 (nuclear transcription factor, X-box binding like 1) Homo sapiens

Analyze

Symbol:

NFXL1

Name:

nuclear transcription factor, X-box binding like 1

RGD ID:

1347533

HGNC Page

HGNC:18726

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CDZFP; cytoplasm-distribution zinc finger protein; FLJ16294; HOZFP; NF-X1-type zinc finger protein NFXL1; nuclear transcription factor, X-box binding-like 1; ovarian zinc finger protein; OZFP; up-regulated in colon cancer 5; URCC5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	47,847,233 - 47,914,667 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	47,847,233 - 47,914,667 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	47,849,250 - 47,916,684 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	47,544,014 - 47,611,390 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	48,298,135 - 48,365,585 (-)	NCBI		Celera
Cytogenetic Map	4	p12	NCBI
HuRef	4	47,168,755 - 47,236,269 (-)	NCBI		HuRef
CHM1_1	4	47,848,204 - 47,915,792 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	47,814,565 - 47,881,968 (-)	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

Chemical and Drug Induced Liver Injury (EXP)

cholestasis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

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

1,2-dichloroethane (ISO)

17beta-estradiol (EXP)

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

aflatoxin B1 (EXP)

amitrole (ISO)

atazanavir sulfate (EXP)

bisphenol A (EXP,ISO)

butanal (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

chenodeoxycholic acid (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

coumarin (EXP)

cyclosporin A (EXP)

deoxycholic acid (EXP)

Dibutyl phosphate (EXP)

formaldehyde (EXP)

FR900359 (EXP)

gallic acid (EXP)

glycochenodeoxycholic acid (EXP)

glycocholic acid (EXP)

glycodeoxycholic acid (EXP)

heptanal (EXP)

hexanal (EXP)

methimazole (ISO)

methyl methanesulfonate (EXP)

N-methyl-4-phenylpyridinium (ISO)

nefazodone (EXP)

nonanal (EXP)

octanal (EXP)

paracetamol (ISO)

pentanal (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

pirinixic acid (EXP,ISO)

pregnenolone 16alpha-carbonitrile (ISO)

progesterone (EXP)

propanal (EXP)

resveratrol (EXP)

silicon dioxide (ISO)

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

triticonazole (ISO)

tunicamycin (EXP,ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of DNA-templated transcription (IBA,IEA)

regulation of transcription by RNA polymerase II (IEA)

Cellular Component

chromatin (ISA)

membrane (HDA,IEA)

nucleus (IBA,IEA)

Molecular Function

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA)

metal ion binding (IEA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IBA)

zinc ion binding (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15815621	PMID:16323267	PMID:16344560	PMID:17081983	PMID:19274049	PMID:19946888	PMID:20522174	PMID:20877624
PMID:21873635	PMID:21903422	PMID:22939629	PMID:24457600	PMID:25609649	PMID:25781923	PMID:26186194	PMID:26972000	PMID:28218735	PMID:28380382	PMID:29104064	PMID:29180619
PMID:29395067	PMID:29467282	PMID:29507755	PMID:29509190	PMID:29568061	PMID:30021884	PMID:30804502	PMID:30862715	PMID:31056421	PMID:31073040	PMID:31091453	PMID:32788342
PMID:32807901	PMID:33541421	PMID:33658012	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34597346	PMID:34672954	PMID:34709727	PMID:35271311	PMID:35384245	PMID:35509820
PMID:35563538	PMID:35575683	PMID:35676246	PMID:35831895	PMID:35944360	PMID:36114006	PMID:36232890	PMID:36610398	PMID:37267103	PMID:37314216	PMID:37317656	PMID:37774976
PMID:37827155	PMID:37931956	PMID:38569033	PMID:38777146

Genomics

Comparative Map Data

NFXL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	47,847,233 - 47,914,667 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	47,847,233 - 47,914,667 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	47,849,250 - 47,916,684 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	47,544,014 - 47,611,390 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	48,298,135 - 48,365,585 (-)	NCBI		Celera
Cytogenetic Map	4	p12	NCBI
HuRef	4	47,168,755 - 47,236,269 (-)	NCBI		HuRef
CHM1_1	4	47,848,204 - 47,915,792 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	47,814,565 - 47,881,968 (-)	NCBI		T2T-CHM13v2.0

Nfxl1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	72,670,647 - 72,717,078 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	72,670,644 - 72,717,027 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	72,513,304 - 72,559,735 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	72,513,301 - 72,559,684 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	72,904,543 - 72,950,884 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	72,835,570 - 72,838,148 (-)	NCBI		MGSCv36	mm8
Celera	5	69,767,855 - 69,808,087 (-)	NCBI		Celera
Cytogenetic Map	5	C3.2	NCBI
cM Map	5	38.44	NCBI

Nfxl1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	35,980,058 - 36,021,478 (+)	NCBI		GRCr8
mRatBN7.2	14	35,626,086 - 35,667,505 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	35,626,066 - 35,667,498 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	35,991,372 - 36,032,388 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	37,296,126 - 37,337,142 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	35,784,495 - 35,825,508 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	38,192,462 - 38,233,852 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	38,192,446 - 38,233,852 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	38,003,494 - 38,044,774 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	38,054,861 - 38,095,844 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	38,082,031 - 38,099,193 (+)	NCBI
Celera	14	34,878,053 - 34,918,828 (+)	NCBI		Celera
Cytogenetic Map	14	p11	NCBI

Nfxl1
(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_004955443	668,031 - 713,481 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955443	665,235 - 714,627 (+)	NCBI	ChiLan1.0	ChiLan1.0

NFXL1
(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	3	79,944,440 - 80,013,688 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	80,207,453 - 80,274,861 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	74,234,523 - 74,301,966 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	84,966,959 - 85,034,154 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	84,967,076 - 85,034,154 (+)	Ensembl	panpan1.1		panPan2

NFXL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	43,743,271 - 43,814,899 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	43,744,181 - 43,814,520 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	43,695,854 - 43,767,093 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	44,342,939 - 44,414,377 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	44,342,946 - 44,414,375 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	44,020,805 - 44,091,824 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	43,552,949 - 43,623,828 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	44,435,784 - 44,507,011 (-)	NCBI		UU_Cfam_GSD_1.0

Nfxl1
(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_024405285	32,235,545 - 32,289,403 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936482	14,009,724 - 14,062,207 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936482	14,008,825 - 14,062,654 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NFXL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	37,812,911 - 37,875,540 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	37,812,378 - 37,875,582 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	39,788,607 - 39,845,909 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NFXL1
(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	27	2,333,158 - 2,401,008 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	27	2,333,809 - 2,400,084 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	48,351,769 - 48,419,293 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nfxl1
(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_004624761	19,029,434 - 19,084,307 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624761	19,029,537 - 19,084,156 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NFXL1
64 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	copy number gain	See cases [RCV000050683]	Chr4:44356201..62245882 [GRCh38] Chr4:44358218..63111600 [GRCh37] Chr4:44052975..62794195 [NCBI36] Chr4:4p13-q13.1	pathogenic
GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	copy number gain	See cases [RCV000051770]	Chr4:44577678..49081273 [GRCh38] Chr4:44579695..49083290 [GRCh37] Chr4:44274452..48778047 [NCBI36] Chr4:4p13-11	pathogenic
NM_152995.5(NFXL1):c.2454G>A (p.Gln818=)	single nucleotide variant	Malignant melanoma [RCV000066442]	Chr4:47851910 [GRCh38] Chr4:47853927 [GRCh37] Chr4:47548684 [NCBI36] Chr4:4p12	not provided
NM_152995.5(NFXL1):c.2146C>T (p.Pro716Ser)	single nucleotide variant	Malignant melanoma [RCV000061002]	Chr4:47875227 [GRCh38] Chr4:47877244 [GRCh37] Chr4:47572001 [NCBI36] Chr4:4p12	not provided
NM_001278623.1(NFXL1):c.407-2398G>T	single nucleotide variant	Lung cancer [RCV000094859]	Chr4:47907744 [GRCh38] Chr4:47909761 [GRCh37] Chr4:4p12	uncertain significance
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	copy number gain	See cases [RCV000134946]	Chr4:40496476..49579850 [GRCh38] Chr4:40498493..49581867 [GRCh37] Chr4:40193250..49276624 [NCBI36] Chr4:4p14-11	pathogenic
GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	copy number gain	See cases [RCV000138576]	Chr4:47383124..48851860 [GRCh38] Chr4:47385141..48853877 [GRCh37] Chr4:47079898..48548634 [NCBI36] Chr4:4p12-11	uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	copy number gain	See cases [RCV000240190]	Chr4:38532827..49064044 [GRCh37] Chr4:4p14-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p12(chr4:47488430-47906770)x3	copy number gain	See cases [RCV000448158]	Chr4:47488430..47906770 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
NM_001278624.2(NFXL1):c.754T>G (p.Ser252Ala)	single nucleotide variant	not specified [RCV004289751]	Chr4:47899442 [GRCh38] Chr4:47901459 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2443C>T (p.Arg815Cys)	single nucleotide variant	not specified [RCV004284594]	Chr4:47851921 [GRCh38] Chr4:47853938 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1814A>C (p.Gln605Pro)	single nucleotide variant	not specified [RCV004325215]	Chr4:47885508 [GRCh38] Chr4:47887525 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p12(chr4:47828849-48182073)x1	copy number loss	not provided [RCV000682399]	Chr4:47828849..48182073 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_001278624.2(NFXL1):c.1802C>T (p.Ala601Val)	single nucleotide variant	not specified [RCV004288512]	Chr4:47885520 [GRCh38] Chr4:47887537 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	copy number gain	Autism [RCV000993707]	Chr4:45868775..48273513 [GRCh37] Chr4:4p12-11	likely pathogenic
GRCh37/hg19 4p12(chr4:47913550-48036790)x1	copy number loss	not provided [RCV001005540]	Chr4:47913550..48036790 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p12(chr4:47618736-47895086)x3	copy number gain	not provided [RCV001005539]	Chr4:47618736..47895086 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p12(chr4:47488430-47906770)	copy number gain	not specified [RCV002053417]	Chr4:47488430..47906770 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.181G>T (p.Gly61Trp)	single nucleotide variant	not specified [RCV004084416]	Chr4:47914023 [GRCh38] Chr4:47916040 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2264A>T (p.Asp755Val)	single nucleotide variant	not specified [RCV004166931]	Chr4:47862898 [GRCh38] Chr4:47864915 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.64G>C (p.Ala22Pro)	single nucleotide variant	not specified [RCV004118675]	Chr4:47914140 [GRCh38] Chr4:47916157 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.461A>G (p.Gln154Arg)	single nucleotide variant	not specified [RCV004150098]	Chr4:47905292 [GRCh38] Chr4:47907309 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1375C>G (p.Pro459Ala)	single nucleotide variant	not specified [RCV004207036]	Chr4:47894257 [GRCh38] Chr4:47896274 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.799C>T (p.His267Tyr)	single nucleotide variant	not specified [RCV004139962]	Chr4:47899397 [GRCh38] Chr4:47901414 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1334T>C (p.Val445Ala)	single nucleotide variant	not specified [RCV004205282]	Chr4:47894298 [GRCh38] Chr4:47896315 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2519C>G (p.Ala840Gly)	single nucleotide variant	not specified [RCV004119606]	Chr4:47851138 [GRCh38] Chr4:47853155 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.595G>A (p.Val199Ile)	single nucleotide variant	not specified [RCV004200784]	Chr4:47903245 [GRCh38] Chr4:47905262 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1009A>G (p.Arg337Gly)	single nucleotide variant	not specified [RCV004198535]	Chr4:47898837 [GRCh38] Chr4:47900854 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.397A>G (p.Thr133Ala)	single nucleotide variant	not specified [RCV004201234]	Chr4:47910833 [GRCh38] Chr4:47912850 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.317G>C (p.Ser106Thr)	single nucleotide variant	not specified [RCV004239227]	Chr4:47910913 [GRCh38] Chr4:47912930 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2381A>G (p.Gln794Arg)	single nucleotide variant	not specified [RCV004072720]	Chr4:47855099 [GRCh38] Chr4:47857116 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.110G>T (p.Arg37Leu)	single nucleotide variant	not specified [RCV004115206]	Chr4:47914094 [GRCh38] Chr4:47916111 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2147C>T (p.Pro716Leu)	single nucleotide variant	not specified [RCV004122538]	Chr4:47875226 [GRCh38] Chr4:47877243 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2623G>A (p.Asp875Asn)	single nucleotide variant	not specified [RCV004097212]	Chr4:47848276 [GRCh38] Chr4:47850293 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1349G>A (p.Arg450His)	single nucleotide variant	not specified [RCV004219260]	Chr4:47894283 [GRCh38] Chr4:47896300 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.402G>C (p.Gln134His)	single nucleotide variant	not specified [RCV004256709]	Chr4:47910828 [GRCh38] Chr4:47912845 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.64G>A (p.Ala22Thr)	single nucleotide variant	not specified [RCV004261013]	Chr4:47914140 [GRCh38] Chr4:47916157 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.985G>A (p.Ala329Thr)	single nucleotide variant	not specified [RCV004318331]	Chr4:47898962 [GRCh38] Chr4:47900979 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.71C>T (p.Ser24Leu)	single nucleotide variant	not specified [RCV004258465]	Chr4:47914133 [GRCh38] Chr4:47916150 [GRCh37] Chr4:4p12	uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
NM_001278624.2(NFXL1):c.1496G>A (p.Arg499Gln)	single nucleotide variant	not specified [RCV004347332]	Chr4:47890660 [GRCh38] Chr4:47892677 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1129G>A (p.Glu377Lys)	single nucleotide variant	not specified [RCV004360693]	Chr4:47898042 [GRCh38] Chr4:47900059 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1850A>G (p.Gln617Arg)	single nucleotide variant	not specified [RCV004355482]	Chr4:47884412 [GRCh38] Chr4:47886429 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2320C>T (p.Pro774Ser)	single nucleotide variant	not specified [RCV004338464]	Chr4:47855160 [GRCh38] Chr4:47857177 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1919A>C (p.Glu640Ala)	single nucleotide variant	not specified [RCV004365066]	Chr4:47879115 [GRCh38] Chr4:47881132 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1294C>T (p.Arg432Cys)	single nucleotide variant	NFXL1-related disorder [RCV003912270]	Chr4:47896558 [GRCh38] Chr4:47898575 [GRCh37] Chr4:4p12	likely benign
NM_001278624.2(NFXL1):c.582C>T (p.Asp194=)	single nucleotide variant	NFXL1-related disorder [RCV003942042]	Chr4:47903258 [GRCh38] Chr4:47905275 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.2258C>G (p.Thr753Arg)	single nucleotide variant	NFXL1-related disorder [RCV003917134]	Chr4:47862904 [GRCh38] Chr4:47864921 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.1803A>G (p.Ala601=)	single nucleotide variant	NFXL1-related disorder [RCV003974720]	Chr4:47885519 [GRCh38] Chr4:47887536 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.1569C>T (p.Thr523=)	single nucleotide variant	NFXL1-related disorder [RCV003982078]	Chr4:47885974 [GRCh38] Chr4:47887991 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.737C>T (p.Pro246Leu)	single nucleotide variant	NFXL1-related disorder [RCV003984519]	Chr4:47899459 [GRCh38] Chr4:47901476 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.1330-7C>T	single nucleotide variant	NFXL1-related disorder [RCV003919657]	Chr4:47894309 [GRCh38] Chr4:47896326 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.2719A>G (p.Thr907Ala)	single nucleotide variant	NFXL1-related disorder [RCV003961583]	Chr4:47848180 [GRCh38] Chr4:47850197 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.450T>A (p.Asn150Lys)	single nucleotide variant	NFXL1-related disorder [RCV003931513]	Chr4:47905303 [GRCh38] Chr4:47907320 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.1706G>A (p.Arg569His)	single nucleotide variant	NFXL1-related disorder [RCV003907107]	Chr4:47885616 [GRCh38] Chr4:47887633 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.2080-3C>G	single nucleotide variant	NFXL1-related disorder [RCV003924605]	Chr4:47875296 [GRCh38] Chr4:47877313 [GRCh37] Chr4:4p12	benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_001278624.2(NFXL1):c.1452+3T>G	single nucleotide variant	NFXL1-related disorder [RCV003937222]	Chr4:47894177 [GRCh38] Chr4:47896194 [GRCh37] Chr4:4p12	likely benign
NM_001278624.2(NFXL1):c.1453-4T>A	single nucleotide variant	NFXL1-related disorder [RCV003929590]	Chr4:47890707 [GRCh38] Chr4:47892724 [GRCh37] Chr4:4p12	likely benign
NM_001278624.2(NFXL1):c.93C>T (p.Arg31=)	single nucleotide variant	NFXL1-related disorder [RCV003954590]	Chr4:47914111 [GRCh38] Chr4:47916128 [GRCh37] Chr4:4p12	likely benign
NM_001278624.2(NFXL1):c.876G>A (p.Lys292=)	single nucleotide variant	NFXL1-related disorder [RCV003976687]	Chr4:47899071 [GRCh38] Chr4:47901088 [GRCh37] Chr4:4p12	benign
NM_001278624.2(NFXL1):c.1861C>T (p.Pro621Ser)	single nucleotide variant	not specified [RCV004495108]	Chr4:47884401 [GRCh38] Chr4:47886418 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.199G>A (p.Ala67Thr)	single nucleotide variant	not specified [RCV004495114]	Chr4:47914005 [GRCh38] Chr4:47916022 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1663A>C (p.Ser555Arg)	single nucleotide variant	not specified [RCV004495094]	Chr4:47885880 [GRCh38] Chr4:47887897 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1694A>G (p.Gln565Arg)	single nucleotide variant	not specified [RCV004495097]	Chr4:47885628 [GRCh38] Chr4:47887645 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.218A>C (p.Gln73Pro)	single nucleotide variant	not specified [RCV004495119]	Chr4:47913986 [GRCh38] Chr4:47916003 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.230C>T (p.Ala77Val)	single nucleotide variant	not specified [RCV004495122]	Chr4:47913974 [GRCh38] Chr4:47915991 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2392C>G (p.Leu798Val)	single nucleotide variant	not specified [RCV004495130]	Chr4:47855088 [GRCh38] Chr4:47857105 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.265A>G (p.Ile89Val)	single nucleotide variant	not specified [RCV004495141]	Chr4:47910965 [GRCh38] Chr4:47912982 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.266T>A (p.Ile89Asn)	single nucleotide variant	not specified [RCV004495144]	Chr4:47910964 [GRCh38] Chr4:47912981 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.277A>G (p.Asn93Asp)	single nucleotide variant	not specified [RCV004495148]	Chr4:47910953 [GRCh38] Chr4:47912970 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.290C>T (p.Ala97Val)	single nucleotide variant	not specified [RCV004495153]	Chr4:47910940 [GRCh38] Chr4:47912957 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.355A>G (p.Lys119Glu)	single nucleotide variant	not specified [RCV004495161]	Chr4:47910875 [GRCh38] Chr4:47912892 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1349G>T (p.Arg450Leu)	single nucleotide variant	not specified [RCV004495086]	Chr4:47894283 [GRCh38] Chr4:47896300 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.896G>A (p.Arg299His)	single nucleotide variant	not specified [RCV004495203]	Chr4:47899051 [GRCh38] Chr4:47901068 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.887C>G (p.Pro296Arg)	single nucleotide variant	not specified [RCV004495201]	Chr4:47899060 [GRCh38] Chr4:47901077 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.776G>A (p.Arg259His)	single nucleotide variant	not specified [RCV004495190]	Chr4:47899420 [GRCh38] Chr4:47901437 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.419G>A (p.Arg140His)	single nucleotide variant	not specified [RCV004643633]	Chr4:47905334 [GRCh38] Chr4:47907351 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2509A>T (p.Ile837Leu)	single nucleotide variant	not specified [RCV004643632]	Chr4:47851148 [GRCh38] Chr4:47853165 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2600G>A (p.Arg867His)	single nucleotide variant	not specified [RCV004654976]	Chr4:47848299 [GRCh38] Chr4:47850316 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1891C>T (p.Pro631Ser)	single nucleotide variant	not specified [RCV004654980]	Chr4:47884371 [GRCh38] Chr4:47886388 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.907G>A (p.Ala303Thr)	single nucleotide variant	not specified [RCV004654977]	Chr4:47899040 [GRCh38] Chr4:47901057 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1667G>A (p.Arg556Gln)	single nucleotide variant	not specified [RCV004654978]	Chr4:47885655 [GRCh38] Chr4:47887672 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1514A>G (p.Asn505Ser)	single nucleotide variant	not specified [RCV004654979]	Chr4:47890642 [GRCh38] Chr4:47892659 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1843T>C (p.Trp615Arg)	single nucleotide variant	not specified [RCV004654981]	Chr4:47884419 [GRCh38] Chr4:47886436 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1127G>T (p.Cys376Phe)	single nucleotide variant	not specified [RCV004654982]	Chr4:47898044 [GRCh38] Chr4:47900061 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2159G>A (p.Arg720Gln)	single nucleotide variant	not specified [RCV004654983]	Chr4:47875214 [GRCh38] Chr4:47877231 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.2517A>C (p.Glu839Asp)	single nucleotide variant	not specified [RCV004654984]	Chr4:47851140 [GRCh38] Chr4:47853157 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.722A>T (p.Asp241Val)	single nucleotide variant	not specified [RCV004654985]	Chr4:47899474 [GRCh38] Chr4:47901491 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1940T>C (p.Val647Ala)	single nucleotide variant	not specified [RCV004654986]	Chr4:47878664 [GRCh38] Chr4:47880681 [GRCh37] Chr4:4p12	uncertain significance
NM_001278624.2(NFXL1):c.1613C>T (p.Pro538Leu)	single nucleotide variant	not specified [RCV004654987]	Chr4:47885930 [GRCh38] Chr4:47887947 [GRCh37] Chr4:4p12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1343
Count of miRNA genes:	548
Interacting mature miRNAs:	605
Transcripts:	ENST00000329043, ENST00000381538, ENST00000464756, ENST00000502448, ENST00000507131, ENST00000507489, ENST00000508115, ENST00000511452
Prediction methods:	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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407193543	GWAS842519_H	small vessel stroke QTL GWAS842519 (human)		0.000006	small vessel stroke		4	47883997	47883998	Human

Markers in Region

SHGC-53848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	47,886,483 - 47,886,719	UniSTS	GRCh37
Build 36	4	47,581,240 - 47,581,476	RGD	NCBI36
Celera	4	48,335,359 - 48,335,595	RGD
Cytogenetic Map	4	p12	UniSTS
HuRef	4	47,205,991 - 47,206,227	UniSTS
TNG Radiation Hybrid Map	4	26632.0	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	1951	465	2269	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001278623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_103795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB085695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB181916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC107068	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK131285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY134856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC051193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM724120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU568855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA801937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB087408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584376	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000329043 ⟹ ENSP00000333113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,847,233 - 47,914,667 (-)	Ensembl

Ensembl Acc Id:

ENST00000381538 ⟹ ENSP00000370949

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,847,240 - 47,914,616 (-)	Ensembl

Ensembl Acc Id:

ENST00000464756 ⟹ ENSP00000425812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,847,240 - 47,914,636 (-)	Ensembl

Ensembl Acc Id:

ENST00000502448

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,847,240 - 47,878,704 (-)	Ensembl

Ensembl Acc Id:

ENST00000507131

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,848,304 - 47,914,616 (-)	Ensembl

Ensembl Acc Id:

ENST00000507489 ⟹ ENSP00000422037

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,847,240 - 47,914,583 (-)	Ensembl

Ensembl Acc Id:

ENST00000508115

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,851,057 - 47,877,144 (-)	Ensembl

Ensembl Acc Id:

ENST00000511452

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	47,851,083 - 47,852,208 (-)	Ensembl

RefSeq Acc Id:

NM_001278623 ⟹ NP_001265552

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	47,847,233 - 47,914,667 (-)	NCBI
GRCh37	4	47,849,250 - 47,916,684 (-)	NCBI
HuRef	4	47,168,755 - 47,236,269 (-)	NCBI
CHM1_1	4	47,848,204 - 47,915,792 (-)	NCBI
T2T-CHM13v2.0	4	47,814,565 - 47,881,968 (-)	NCBI

Sequence:

show sequence

GGAACGCGGGCGGGGGCTTCTGGGAGTTGTAGTCTGTTGGGGGCGTGCGCAGTCGGGATGGAAG
CTTCCTGGCGCCAGGTGGCCGGTGGCCGAGGCCGATCCCGGGGACGGGCCACTGCCGCCCCCTC
AGGAAATGGAGTCCATCTCCGCGGCGCCGGAGGAGGGCGAGAGAAGGGGTCGGTGGGCGCAGTT
CCTTCTGGCACCAGTCCCGGAGGAGTCGCGACCACGGCGGCTGCAGGGAGCAGGCACAGCCCCG
CAGGATCCCAAGCCCTGCAGACTACCGCAGCCAGCGAGCTAATGTCTCAGAAAAAATTTGAAGA
AATCAAGAAAGCTAACCAAGCTGCAGCCAGAAAACTTGTTGAAGAACAGTTTAGCTCTTCATCT
GAAGAAGGAGATGAAGATTTTGAAGGAAAACAGGGAAAAATACTTGCAAATACGTTTATAACAT
ACACTACTCAGACAGATGGAGATACACGTGAATTAGAGCGAACAAAACAATATGTAAATGAAGC
TTTTCAAGCAGGGGCTATGACATGCCTAATTTGTATTGCTTCGGTGAAGAGAAACCAAGCAGTT
TGGAGCTGTTCGGGATGTTTCTGTATATTTCACATGCCCTGTATCCAGAAGTGGGCTAAAGACA
GCCAGTTTCTTGTATCTTCTGTGACTGATGATGATTTTGGAAAGAAAGATTGTCCCTGGCCTTG
TCCAAAATGTAGGTTTGAATACAAACGATCTGAAACACCTAGTAGGTACTATTGCTATTGTGGA
AAAGTAGAAGATCCACCTTTAGATCCGTGGCTTGTGCCTCATTCATGTGGCCAAGTATGTGAGC
GTGAATTTAAACCTCCTTGTGGCCATAAATGTTTACTCCTCTGTCATCCAGGTCCCTGCCCTCC
TTGTCCAAAGATGGTCACAACTACTTGTTACTGTAAGAAAGCAAAACCTATCCCTCGTAGGTGC
AGTGCCAAGGAATGGTCTTGTCAGCTGCCATGTGGACAGAAGTTGCTTTGTGGGCAACATAAGT
GTGAAAATCCTTGTCATGCAGGAAGCTGTCAGCCTTGTCCAAGAGTTAGTAGACAAAAGTGTGT
CTGTGGCAAAAAAGTAGCTGAAAGAAGTTGTGCAAGTCCACTATGGCACTGTGATCAAGTATGT
GGAAAAACACTGCCATGTGGTAATCACACATGTGAGCAAGTTTGCCATGTTGGTGCTTGTGGAG
AATGTCCTCGATCTGGGAAAAGGTTCTGTCCATGTCAGAAATCAAAGTTTTCTTTGCCTTGTAC
AGAAGATGTACCAACTTGTGGAGACAGTTGTGACAAAGTACTTGAATGCGGAATCCATAGATGT
TCACAGCGTTGTCACCGAGGTCCCTGTGAAACATGTAGACAAGAAGTGGAAAAGCATTGTCGCT
GTGGAAAGCATACAAAACGAATGCCTTGTCATAAACCTTATCTGTGTGAAACTAAGTGTGTTAA
GATGCGTGACTGTCAGAAGCATCAATGTAGAAGAAAGTGTTGCCCTGGAAACTGTCCACCTTGT
GATCAAAACTGTGGACGGACTTTAGGATGTAGAAACCATAAGTGTCCATCTGTCTGTCACAGAG
GCAGTTGCTATCCCTGCCCAGAAACCGTAGATGTGAAGTGTAATTGTGGCAATACAAAGGTGAC
AGTGCCCTGTGGCCGAGAACGTACCACAAGACCACCCAAGTGCAAGGAGCAATGCAGTCGACCA
CCAACTTGTCATCATACAAGTCAAGAAAAACATCGCTGTCACTTTGGTTCTTGTCCACCATGTC
ATCAACCTTGCCAAAAAGTTTTGGAGAAATGTGGTCACTTGTGTCCTGCTCCGTGTCATGATCA
AGCATTAATAAAGCAGACTGGCAGGCACCAGCCTACAGGCCCTTGGGAACAGCCTTCTGAGCCA
GCATTTATTCAGACTGCATTACCGTGTCCTCCATGTCAAGTTCCTATTCCTATGGAATGTCTTG
GGAAACATGAGGTGAGTCCACTACCATGCCATGCTGTAGGACCCTACTCTTGTAAAAGAGTTTG
TGGAAGAATCTTGGATTGTCAGAATCACACATGTATGAAAGAATGCCACAAAGTAACCAAAACT
GATGGCTGCACTGGAAAAAACAAGGCTGGCCCAGAATGCCTTCATTGTGAGGAAGGGTGCTCCA
AGTCACGGCCACTAGGTTGTCTTCACCCATGTATTTTGCGATGTCACCCTGGAGAATGTCCACC
TTGTGTTCAGATGCTTAGAATAAAATGTCACTGTAAGATCACAAGCCTGTATGTGGAATGTAGA
AAAATAACCACAGCTGATGTAAATGAAAAGAACCTCCTCAGTTGTTGCAAAAATCAGTGCCCTA
AAGAGCTTCCTTGTGGTCATAGATGCAAAGAGATGTGTCATCCTGGTGAATGTCCCTTTAACTG
CAACCAGAAGGTAAAACTTAGATGTCCTTGTAAAAGAATAAAAAAGGAATTGCAGTGCAACAAA
GTACGTGAAAATCAGGTTTCAATAGAATGTGACACAACGTGCAAGGAAATGAAGCGGAAAGCAT
CTGAGATAAAAGAAGCAGAAGCCAAAGCTGCTCTTGAAGAAGAAAAACGAAGACAACAGGCTGA
ACTAGAAGCTTTTGAAAACAGACTGAAGGGTCGTCGGAAGAAGAACAGGAAAAGAGATGAAGTG
GCAGTTGAGCTATCACTATGGCAAAAACATAAATATTATCTCATTTCAGTGTGTGGAGTTGTGG
TTGTAGTGTTTGCCTGGTACATCACCCATGATGTCAATTAAAAAAAGTTTTGATCTTTTAATGT
AACTCAGATTGGATTTAGATAAGTTGTTAAATTTGAAATATTAGAAAATGTATATTATAGAACA
TGATATATATTTACATTCATCTCTGTATTCTCTCAGCTGTTGTTAGAAGGACAGAATGTTAAAC
TTTATCTTAATTAGTATACTAGAAAGGGCAGTATAATACTGTTTTAAAGTGAAGGCATGACTGA
AACTAAAATATTTCATAAGGCTTAGCTAGAGGCAGAGTAACGTGTTTTTGTTCATTGGGCTTCC
TTGTACTTAGTTTTTTCATTTAATAATTCAAACCAACACTTTTAAAAAAATAATTCAGATGAGA
CTGAGCCATATCTGCAGTAAGAGAAATATTTCTTAATGTTTTGGTTACTTATGATAGAGTACTT
TTCTTGATACTGTTAACTTTGTGCTTTTTAAAAAAAGTGATTCTCTAACAGACCTCTTAAATTG
TGACATGAAGGTATGTAATTAGATTTCAGAAATTGGTTTATTAGTGAGGAATTTTTATCAATAA
ATGTCATGGGGCGTGTTCTTCAGAATATATAGTTATTTTCAACAAATGCCAGGCTAGATTCCTC
ACATGTGGCTATTTCTTATGTAAGAAGCTTTTAACTGAAGTTGGCATGTTTCGTAAAACTTGCG
TGTCTTTTAAAAATAATAAAAGGAAGATGAGTATTTATGAAGAATATGTGCTGACAACAGGGCT
TATGAGGTCTATGTACCTTAATCTCGTTTCTCCTTACCACAATCTTAAATAGATTTCAGCTGAA
AATAATCAGTTCTTATGAAAACAAATAGAGAAATATCAGTAAGTCAAATCTGTTTGAATTATAA
TTCCTTTCAAATAGTTTTGCTATTTAATTTATATGATTAATGTTTTCATTAAAATTTTTGATAC
CAAATTTGTAA

hide sequence

RefSeq Acc Id:

NM_001278624 ⟹ NP_001265553

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	47,847,240 - 47,914,583 (-)	NCBI
GRCh37	4	47,849,250 - 47,916,684 (-)	NCBI
HuRef	4	47,168,755 - 47,236,269 (-)	NCBI
CHM1_1	4	47,848,204 - 47,915,682 (-)	NCBI
T2T-CHM13v2.0	4	47,814,572 - 47,881,884 (-)	NCBI

Sequence:

show sequence

ACCACTGCAGTTGGTTCCCGGCGGGAGACGCAGGGTCAGTCTGTGACTCTTCCCCTACCACGCT
CCCGCAGAGGCTGAGGAGGCGGTTTCGACTTCTCCTCCGGCTTTCTGTCTTCGGCACTGTGTGC
TTCTTGCTCCGCGGTTTATTTCTGTACCTAGTCCTCCCTCCCCTCTTCGGTCCATCTCCAAAGC
CCGGGCTTGGCGGGGACTCGCCCTCCGGGATGGAAGCTTCCTGGCGCCAGGTGGCCGGTGGCCG
AGGCCGATCCCGGGGACGGGCCACTGCCGCCCCCTCAGGAAATGGAGTCCATCTCCGCGGCGCC
GGAGGAGGGCGAGAGAAGGGGTCGGTGGGCGCAGTTCCTTCTGGCACCAGTCCCGGAGGAGTCG
CGACCACGGCGGCTGCAGGGAGCAGGCACAGCCCCGCAGGATCCCAAGCCCTGCAGACTACCGC
AGCCAGCGAGCTAATGTCTCAGAAAAAATTTGAAGAAATCAAGAAAGCTAACCAAGCTGCAGCC
AGAAAACTTGTTGAAGAACAGTTTAGCTCTTCATCTGAAGAAGGAGATGAAGATTTTGAAGGAA
AACAGGGAAAAATACTTGCAAATACGTTTATAACATACACTACTCAGACAGATGGAGATACACG
TGAATTAGAGCGAACAAAACAATATGTAAATGAAGCTTTTCAAGCAGGGGCTATGACATGCCTA
ATTTGTATTGCTTCGGTGAAGAGAAACCAAGCAGTTTGGAGCTGTTCGGGATGTTTCTGTATAT
TTCACATGCCCTGTATCCAGAAGTGGGCTAAAGACAGCCAGTTTCTTGTATCTTCTGTGACTGA
TGATGATTTTGGAAAGAAAGATTGTCCCTGGCCTTGTCCAAAATGTAGGTTTGAATACAAACGA
TCTGAAACACCTAGTAGGTACTATTGCTATTGTGGAAAAGTAGAAGATCCACCTTTAGATCCGT
GGCTTGTGCCTCATTCATGTGGCCAAGTATGTGAGCGTGAATTTAAACCTCCTTGTGGCCATAA
ATGTTTACTCCTCTGTCATCCAGGTCCCTGCCCTCCTTGTCCAAAGATGGTCACAACTACTTGT
TACTGTAAGAAAGCAAAACCTATCCCTCGTAGGTGCAGTGCCAAGGAATGGTCTTGTCAGCTGC
CATGTGGACAGAAGTTGCTTTGTGGGCAACATAAGTGTGAAAATCCTTGTCATGCAGGAAGCTG
TCAGCCTTGTCCAAGAGTTAGTAGACAAAAGTGTGTCTGTGGCAAAAAAGTAGCTGAAAGAAGT
TGTGCAAGTCCACTATGGCACTGTGATCAAGTATGTGGAAAAACACTGCCATGTGGTAATCACA
CATGTGAGCAAGTTTGCCATGTTGGTGCTTGTGGAGAATGTCCTCGATCTGGGAAAAGGTTCTG
TCCATGTCAGAAATCAAAGTTTTCTTTGCCTTGTACAGAAGATGTACCAACTTGTGGAGACAGT
TGTGACAAAGTACTTGAATGCGGAATCCATAGATGTTCACAGCGTTGTCACCGAGGTCCCTGTG
AAACATGTAGACAAGAAGTGGAAAAGCATTGTCGCTGTGGAAAGCATACAAAACGAATGCCTTG
TCATAAACCTTATCTGTGTGAAACTAAGTGTGTTAAGATGCGTGACTGTCAGAAGCATCAATGT
AGAAGAAAGTGTTGCCCTGGAAACTGTCCACCTTGTGATCAAAACTGTGGACGGACTTTAGGAT
GTAGAAACCATAAGTGTCCATCTGTCTGTCACAGAGGCAGTTGCTATCCCTGCCCAGAAACCGT
AGATGTGAAGTGTAATTGTGGCAATACAAAGGTGACAGTGCCCTGTGGCCGAGAACGTACCACA
AGACCACCCAAGTGCAAGGAGCAATGCAGTCGACCACCAACTTGTCATCATACAAGTCAAGAAA
AACATCGCTGTCACTTTGGTTCTTGTCCACCATGTCATCAACCTTGCCAAAAAGTTTTGGAGAA
ATGTGGTCACTTGTGTCCTGCTCCGTGTCATGATCAAGCATTAATAAAGCAGACTGGCAGGCAC
CAGCCTACAGGCCCTTGGGAACAGCCTTCTGAGCCAGCATTTATTCAGACTGCATTACCGTGTC
CTCCATGTCAAGTTCCTATTCCTATGGAATGTCTTGGGAAACATGAGGTGAGTCCACTACCATG
CCATGCTGTAGGACCCTACTCTTGTAAAAGAGTTTGTGGAAGAATCTTGGATTGTCAGAATCAC
ACATGTATGAAAGAATGCCACAAAGTAACCAAAACTGATGGCTGCACTGGAAAAAACAAGGCTG
GCCCAGAATGCCTTCATTGTGAGGAAGGGTGCTCCAAGTCACGGCCACTAGGTTGTCTTCACCC
ATGTATTTTGCGATGTCACCCTGGAGAATGTCCACCTTGTGTTCAGATGCTTAGAATAAAATGT
CACTGTAAGATCACAAGCCTGTATGTGGAATGTAGAAAAATAACCACAGCTGATGTAAATGAAA
AGAACCTCCTCAGTTGTTGCAAAAATCAGTGCCCTAAAGAGCTTCCTTGTGGTCATAGATGCAA
AGAGATGTGTCATCCTGGTGAATGTCCCTTTAACTGCAACCAGAAGGTAAAACTTAGATGTCCT
TGTAAAAGAATAAAAAAGGAATTGCAGTGCAACAAAGTACGTGAAAATCAGGTTTCAATAGAAT
GTGACACAACGTGCAAGGAAATGAAGCGGAAAGCATCTGAGATAAAAGAAGCAGAAGCCAAAGC
TGCTCTTGAAGAAGAAAAACGAAGACAACAGGCTGAACTAGAAGCTTTTGAAAACAGACTGAAG
GGTCGTCGGAAGAAGAACAGGAAAAGAGATGAAGTGGCAGTTGAGCTATCACTATGGCAAAAAC
ATAAATATTATCTCATTTCAGTGTGTGGAGTTGTGGTTGTAGTGTTTGCCTGGTACATCACCCA
TGATGTCAATTAAAAAAAGTTTTGATCTTTTAATGTAACTCAGATTGGATTTAGATAAGTTGTT
AAATTTGAAATATTAGAAAATGTATATTATAGAACATGATATATATTTACATTCATCTCTGTAT
TCTCTCAGCTGTTGTTAGAAGGACAGAATGTTAAACTTTATCTTAATTAGTATACTAGAAAGGG
CAGTATAATACTGTTTTAAAGTGAAGGCATGACTGAAACTAAAATATTTCATAAGGCTTAGCTA
GAGGCAGAGTAACGTGTTTTTGTTCATTGGGCTTCCTTGTACTTAGTTTTTTCATTTAATAATT
CAAACCAACACTTTTAAAAAAATAATTCAGATGAGACTGAGCCATATCTGCAGTAAGAGAAATA
TTTCTTAATGTTTTGGTTACTTATGATAGAGTACTTTTCTTGATACTGTTAACTTTGTGCTTTT
TAAAAAAAGTGATTCTCTAACAGACCTCTTAAATTGTGACATGAAGGTATGTAATTAGATTTCA
GAAATTGGTTTATTAGTGAGGAATTTTTATCAATAAATGTCATGGGGCGTGTTCTTCAGAATAT
ATAGTTATTTTCAACAAATGCCAGGCTAGATTCCTCACATGTGGCTATTTCTTATGTAAGAAGC
TTTTAACTGAAGTTGGCATGTTTCGTAAAACTTGCGTGTCTTTTAAAAATAATAAAAGGAAGAT
GAGTATTTATGAAGAATATGTGCTGACAACAGGGCTTATGAGGTCTATGTACCTTAATCTCGTT
TCTCCTTACCACAATCTTAAATAGATTTCAGCTGAAAATAATCAGTTCTTATGAAAACAAATAG
AGAAATATCAGTAAGTCAAATCTGTTTGAATTATAATTCCTTTCAAATAGTTTTGCTATTTAAT
TTATATGATTAATGTTTTCATTAAAATTTTTGATACCAAA

hide sequence

RefSeq Acc Id:

NM_152995 ⟹ NP_694540

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	47,847,240 - 47,914,583 (-)	NCBI
GRCh37	4	47,849,250 - 47,916,684 (-)	NCBI
Build 36	4	47,544,014 - 47,611,390 (-)	NCBI Archive
Celera	4	48,298,135 - 48,365,585 (-)	RGD
HuRef	4	47,168,755 - 47,236,269 (-)	NCBI
CHM1_1	4	47,848,204 - 47,915,769 (-)	NCBI
T2T-CHM13v2.0	4	47,814,572 - 47,881,884 (-)	NCBI

Sequence:

show sequence

ACCACTGCAGTTGGTTCCCGGCGGGAGACGCAGGGGATGGAAGCTTCCTGGCGCCAGGTGGCCG
GTGGCCGAGGCCGATCCCGGGGACGGGCCACTGCCGCCCCCTCAGGAAATGGAGTCCATCTCCG
CGGCGCCGGAGGAGGGCGAGAGAAGGGGTCGGTGGGCGCAGTTCCTTCTGGCACCAGTCCCGGA
GGAGTCGCGACCACGGCGGCTGCAGGGAGCAGGCACAGCCCCGCAGGATCCCAAGCCCTGCAGA
CTACCGCAGCCAGCGAGCTAATGTCTCAGAAAAAATTTGAAGAAATCAAGAAAGCTAACCAAGC
TGCAGCCAGAAAACTTGTTGAAGAACAGTTTAGCTCTTCATCTGAAGAAGGAGATGAAGATTTT
GAAGGAAAACAGGGAAAAATACTTGCAAATACGTTTATAACATACACTACTCAGACAGATGGAG
ATACACGTGAATTAGAGCGAACAAAACAATATGTAAATGAAGCTTTTCAAGCAGGGGCTATGAC
ATGCCTAATTTGTATTGCTTCGGTGAAGAGAAACCAAGCAGTTTGGAGCTGTTCGGGATGTTTC
TGTATATTTCACATGCCCTGTATCCAGAAGTGGGCTAAAGACAGCCAGTTTCTTGTATCTTCTG
TGACTGATGATGATTTTGGAAAGAAAGATTGTCCCTGGCCTTGTCCAAAATGTAGGTTTGAATA
CAAACGATCTGAAACACCTAGTAGGTACTATTGCTATTGTGGAAAAGTAGAAGATCCACCTTTA
GATCCGTGGCTTGTGCCTCATTCATGTGGCCAAGTATGTGAGCGTGAATTTAAACCTCCTTGTG
GCCATAAATGTTTACTCCTCTGTCATCCAGGTCCCTGCCCTCCTTGTCCAAAGATGGTCACAAC
TACTTGTTACTGTAAGAAAGCAAAACCTATCCCTCGTAGGTGCAGTGCCAAGGAATGGTCTTGT
CAGCTGCCATGTGGACAGAAGTTGCTTTGTGGGCAACATAAGTGTGAAAATCCTTGTCATGCAG
GAAGCTGTCAGCCTTGTCCAAGAGTTAGTAGACAAAAGTGTGTCTGTGGCAAAAAAGTAGCTGA
AAGAAGTTGTGCAAGTCCACTATGGCACTGTGATCAAGTATGTGGAAAAACACTGCCATGTGGT
AATCACACATGTGAGCAAGTTTGCCATGTTGGTGCTTGTGGAGAATGTCCTCGATCTGGGAAAA
GGTTCTGTCCATGTCAGAAATCAAAGTTTTCTTTGCCTTGTACAGAAGATGTACCAACTTGTGG
AGACAGTTGTGACAAAGTACTTGAATGCGGAATCCATAGATGTTCACAGCGTTGTCACCGAGGT
CCCTGTGAAACATGTAGACAAGAAGTGGAAAAGCATTGTCGCTGTGGAAAGCATACAAAACGAA
TGCCTTGTCATAAACCTTATCTGTGTGAAACTAAGTGTGTTAAGATGCGTGACTGTCAGAAGCA
TCAATGTAGAAGAAAGTGTTGCCCTGGAAACTGTCCACCTTGTGATCAAAACTGTGGACGGACT
TTAGGATGTAGAAACCATAAGTGTCCATCTGTCTGTCACAGAGGCAGTTGCTATCCCTGCCCAG
AAACCGTAGATGTGAAGTGTAATTGTGGCAATACAAAGGTGACAGTGCCCTGTGGCCGAGAACG
TACCACAAGACCACCCAAGTGCAAGGAGCAATGCAGTCGACCACCAACTTGTCATCATACAAGT
CAAGAAAAACATCGCTGTCACTTTGGTTCTTGTCCACCATGTCATCAACCTTGCCAAAAAGTTT
TGGAGAAATGTGGTCACTTGTGTCCTGCTCCGTGTCATGATCAAGCATTAATAAAGCAGACTGG
CAGGCACCAGCCTACAGGCCCTTGGGAACAGCCTTCTGAGCCAGCATTTATTCAGACTGCATTA
CCGTGTCCTCCATGTCAAGTTCCTATTCCTATGGAATGTCTTGGGAAACATGAGGTGAGTCCAC
TACCATGCCATGCTGTAGGACCCTACTCTTGTAAAAGAGTTTGTGGAAGAATCTTGGATTGTCA
GAATCACACATGTATGAAAGAATGCCACAAAGTAACCAAAACTGATGGCTGCACTGGAAAAAAC
AAGGCTGGCCCAGAATGCCTTCATTGTGAGGAAGGGTGCTCCAAGTCACGGCCACTAGGTTGTC
TTCACCCATGTATTTTGCGATGTCACCCTGGAGAATGTCCACCTTGTGTTCAGATGCTTAGAAT
AAAATGTCACTGTAAGATCACAAGCCTGTATGTGGAATGTAGAAAAATAACCACAGCTGATGTA
AATGAAAAGAACCTCCTCAGTTGTTGCAAAAATCAGTGCCCTAAAGAGCTTCCTTGTGGTCATA
GATGCAAAGAGATGTGTCATCCTGGTGAATGTCCCTTTAACTGCAACCAGAAGGTAAAACTTAG
ATGTCCTTGTAAAAGAATAAAAAAGGAATTGCAGTGCAACAAAGTACGTGAAAATCAGGTTTCA
ATAGAATGTGACACAACGTGCAAGGAAATGAAGCGGAAAGCATCTGAGATAAAAGAAGCAGAAG
CCAAAGCTGCTCTTGAAGAAGAAAAACGAAGACAACAGGCTGAACTAGAAGCTTTTGAAAACAG
ACTGAAGGGTCGTCGGAAGAAGAACAGGAAAAGAGATGAAGTGGCAGTTGAGCTATCACTATGG
CAAAAACATAAATATTATCTCATTTCAGTGTGTGGAGTTGTGGTTGTAGTGTTTGCCTGGTACA
TCACCCATGATGTCAATTAAAAAAAGTTTTGATCTTTTAATGTAACTCAGATTGGATTTAGATA
AGTTGTTAAATTTGAAATATTAGAAAATGTATATTATAGAACATGATATATATTTACATTCATC
TCTGTATTCTCTCAGCTGTTGTTAGAAGGACAGAATGTTAAACTTTATCTTAATTAGTATACTA
GAAAGGGCAGTATAATACTGTTTTAAAGTGAAGGCATGACTGAAACTAAAATATTTCATAAGGC
TTAGCTAGAGGCAGAGTAACGTGTTTTTGTTCATTGGGCTTCCTTGTACTTAGTTTTTTCATTT
AATAATTCAAACCAACACTTTTAAAAAAATAATTCAGATGAGACTGAGCCATATCTGCAGTAAG
AGAAATATTTCTTAATGTTTTGGTTACTTATGATAGAGTACTTTTCTTGATACTGTTAACTTTG
TGCTTTTTAAAAAAAGTGATTCTCTAACAGACCTCTTAAATTGTGACATGAAGGTATGTAATTA
GATTTCAGAAATTGGTTTATTAGTGAGGAATTTTTATCAATAAATGTCATGGGGCGTGTTCTTC
AGAATATATAGTTATTTTCAACAAATGCCAGGCTAGATTCCTCACATGTGGCTATTTCTTATGT
AAGAAGCTTTTAACTGAAGTTGGCATGTTTCGTAAAACTTGCGTGTCTTTTAAAAATAATAAAA
GGAAGATGAGTATTTATGAAGAATATGTGCTGACAACAGGGCTTATGAGGTCTATGTACCTTAA
TCTCGTTTCTCCTTACCACAATCTTAAATAGATTTCAGCTGAAAATAATCAGTTCTTATGAAAA
CAAATAGAGAAATATCAGTAAGTCAAATCTGTTTGAATTATAATTCCTTTCAAATAGTTTTGCT
ATTTAATTTATATGATTAATGTTTTCATTAAAATTTTTGATACCAAA

hide sequence

RefSeq Acc Id:

NR_103795

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	47,847,233 - 47,914,667 (-)	NCBI
GRCh37	4	47,849,250 - 47,916,684 (-)	NCBI
HuRef	4	47,168,755 - 47,236,269 (-)	NCBI
CHM1_1	4	47,848,204 - 47,915,792 (-)	NCBI
T2T-CHM13v2.0	4	47,814,565 - 47,881,968 (-)	NCBI

Sequence:

show sequence

GGAACGCGGGCGGGGGCTTCTGGGAGTTGTAGTCTGTTGGGGGCGTGCGCAGTCGGGATGGAAG
CTTCCTGGCGCCAGGTGGCCGGTGGCCGAGGCCGATCCCGGGGACGGGCCACTGCCGCCCCCTC
AGGAAATGGAGTCCATCTCCGCGGCGCCGGAGGAGGGCGAGAGAAGGGGTCGGTGGGCGCAGTT
CCTTCTGGCACCAGTCCCGGAGGAGTCGCGACCACGGCGGCTGCAGGGAGCAGGCACAGCCCCG
CAGGATCCCAAGCCCTGCAGACTACCGCAGCCAGCGAGCTAATGTCTCAGAAAAAATTTGAAGA
AATCAAGAAAGCTAACCAAGCTGCAGCCAGAAAACTTGTTGAAGAACAGTTTAGCTCTTCATCT
GAAGAAGGAGATGAAGATTTTGAAGGAAAACAGGGAAAAATACTTGCAAATACGTTTATAACAT
ACACTACTCAGACAGATGGAGATACACGTGAATTAGAGCGAACAAAACAATATGTAAATGAAGC
TTTTCAAGCAGGGGCTATGACATGCCTAATTTGTATTGCTTCGGTGAAGAGAAACCAAGCAGTT
TGGAGCTGTTCGGGATGTTTCTGTATATTTCACATGCCCTGTATCCAGAAGTGGGCTAAAGACA
GCCAGTTTCTTGTATCTTCTGTGACTGATGATGATTTTGGAAAGAAAGATTGTCCCTGGCCTTG
TCCAAAATGTAGGTTTGAATACAAACGATCTGAAACACCTAGTAGGTACTATTGCTATTGTGGA
AAAGTAGAAGATCCACCTTTAGATCCGTGGCTTGTGCCTCATTCATGTGGCCAAGTATGTGAGC
GTGAATTTAAACCTCCTTGTGGCCATAAATGTTTACTCCTCTGTCATCCAGGTCCCTGCCCTCC
TTGTCCAAAGATGGTCACAACTACTTGTTACTGTAAGAAAGCAAAACCTATCCCTCGTAGGTGC
AGTGCCAAGGAATGGTCTTGTCAGCTGCCATGTGGACAGAAGTTGCTTTGTGGGCAACATAAGT
GTGAAAATCCTTGTCATGCAGGAAGCTGTCAGCCTTGTCCAAGAGTTAGTAGACAAAAGTGTGT
CTGTGGCAAAAAAGTAGCTGAAAGAAGTTGTGCAAGTCCACTATGGCACTGTGATCAAGTATGT
GGAAAAACACTGCCATGTGGTAATCACACATGTGAGCAAGTTTGCCATGTTGGTGCTTGTGGAG
AATGTCCTCGATCTGGGAAAAGGTTCTGTCCATGTCAGAAATCAAAGTTTTCTTTGCCTTGTAC
AGAAGATGTACCAACTTGTGGAGACAGTTGTGACAAAGTACTTGAATGCGGAATCCATAGATGT
TCACAGCGTTGTCACCGAGGTCCCTGTGAAACATGTAGACAAGAAGTGGAAAAGCATTGTCGCT
GTGGAAAGCATACAAAACGAATGCCTTGTCATAAACCTTATCTGTGTGAAACTAAGTGTGTTAA
GATGCGTGACTGTCAGAAGCATCAATGTAGAAGAAAGTGTTGCCCTGGAAACTGTCCACCTTGT
GATCAAAACTGTGGACGGACTTTAGGATGTAGAAACCATAAGTGTCCATCTGTCTGTCACAGAG
GCAGTTGCTATCCCTGCCCAGAAACCGTAGATGTGAAGTGTAATTGTGGCAATACAAAGGTGAC
AGTGCCCTGTGGCCGAGAACGTACCACAAGACCACCCAAGTGCAAGGAGCAATGCAGTCGACCA
CCAACTTGTCATCATACAAGTCAAGAAAAACATCGCTGTCACTTTGGTTCTTGTCCACCATGTC
ATCAACCTTGCCAAAAAGTTTTGGAGAAATGTGGTCACTTGTGTCCTGCTCCGTGTCATGATCA
AGCATTAATAAAGCAGACTGGCAGGCACCAGCCTACAGGCCCTTGGGAACAGCCTTCTGAGCCA
GCATTTATTCAGACTGCATTACCGTGTCCTCCATGTCAAGTTCCTATTCCTATGGAATGTCTTG
GGAAACATGAGGTGAGTCCACTACCATGCCATGCTGTAGGACCCTACTCTTGTAAAAGAGTTTG
TGGAAGAATCTTGGATTGTCAGAATCACACATGTATGAAAGAATGCCACAAAGTAACCAAAACT
GATGGCTGCACTGGAAAAAACAAGATAGGGAAACTGAAGCTCTGTGATTTGTCCATGATTCTGC
AACAGGAGAGTAGCAAATCAGAAAGTACTGTGCCTGATCTTTTAACTCCCAGCCCAATGTGCTC
TTCTACTCATGTTATTTAAATAGAAGATTTTTGTAGGTGTACCACATAGGAAGAGCAAATGAAA
TAAACTCTTTAGGCTGGCCCAGAATGCCTTCATTGTGAGGAAGGGTGCTCCAAGTCACGGCCAC
TAGGTTGTCTTCACCCATGTATTTTGCGATGTCACCCTGGAGAATGTCCACCTTGTGTTCAGAT
GCTTAGAATAAAATGTCACTGTAAGATCACAAGCCTGTATGTGGAATGTAGAAAAATAACCACA
GCTGATGTAAATGAAAAGAACCTCCTCAGTTGTTGCAAAAATCAGTGCCCTAAAGAGCTTCCTT
GTGGTCATAGATGCAAAGAGATGTGTCATCCTGGTGAATGTCCCTTTAACTGCAACCAGAAGGT
AAAACTTAGATGTCCTTGTAAAAGAATAAAAAAGGAATTGCAGTGCAACAAAGTACGTGAAAAT
CAGGTTTCAATAGAATGTGACACAACGTGCAAGGAAATGAAGCGGAAAGCATCTGAGATAAAAG
AAGCAGAAGCCAAAGCTGCTCTTGAAGAAGAAAAACGAAGACAACAGGCTGAACTAGAAGCTTT
TGAAAACAGACTGAAGGGTCGTCGGAAGAAGAACAGGAAAAGAGATGAAGTGGCAGTTGAGCTA
TCACTATGGCAAAAACATAAATATTATCTCATTTCAGTGTGTGGAGTTGTGGTTGTAGTGTTTG
CCTGGTACATCACCCATGATGTCAATTAAAAAAAGTTTTGATCTTTTAATGTAACTCAGATTGG
ATTTAGATAAGTTGTTAAATTTGAAATATTAGAAAATGTATATTATAGAACATGATATATATTT
ACATTCATCTCTGTATTCTCTCAGCTGTTGTTAGAAGGACAGAATGTTAAACTTTATCTTAATT
AGTATACTAGAAAGGGCAGTATAATACTGTTTTAAAGTGAAGGCATGACTGAAACTAAAATATT
TCATAAGGCTTAGCTAGAGGCAGAGTAACGTGTTTTTGTTCATTGGGCTTCCTTGTACTTAGTT
TTTTCATTTAATAATTCAAACCAACACTTTTAAAAAAATAATTCAGATGAGACTGAGCCATATC
TGCAGTAAGAGAAATATTTCTTAATGTTTTGGTTACTTATGATAGAGTACTTTTCTTGATACTG
TTAACTTTGTGCTTTTTAAAAAAAGTGATTCTCTAACAGACCTCTTAAATTGTGACATGAAGGT
ATGTAATTAGATTTCAGAAATTGGTTTATTAGTGAGGAATTTTTATCAATAAATGTCATGGGGC
GTGTTCTTCAGAATATATAGTTATTTTCAACAAATGCCAGGCTAGATTCCTCACATGTGGCTAT
TTCTTATGTAAGAAGCTTTTAACTGAAGTTGGCATGTTTCGTAAAACTTGCGTGTCTTTTAAAA
ATAATAAAAGGAAGATGAGTATTTATGAAGAATATGTGCTGACAACAGGGCTTATGAGGTCTAT
GTACCTTAATCTCGTTTCTCCTTACCACAATCTTAAATAGATTTCAGCTGAAAATAATCAGTTC
TTATGAAAACAAATAGAGAAATATCAGTAAGTCAAATCTGTTTGAATTATAATTCCTTTCAAAT
AGTTTTGCTATTTAATTTATATGATTAATGTTTTCATTAAAATTTTTGATACCAAATTTGTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001265552	(Get FASTA)	NCBI Sequence Viewer
	NP_001265553	(Get FASTA)	NCBI Sequence Viewer
	NP_694540	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH18019	(Get FASTA)	NCBI Sequence Viewer
	AAH51193	(Get FASTA)	NCBI Sequence Viewer
	AAN08626	(Get FASTA)	NCBI Sequence Viewer
	AAY40918	(Get FASTA)	NCBI Sequence Viewer
	BAD18459	(Get FASTA)	NCBI Sequence Viewer
	BAG16182	(Get FASTA)	NCBI Sequence Viewer
	BAG16261	(Get FASTA)	NCBI Sequence Viewer
	BAH13710	(Get FASTA)	NCBI Sequence Viewer
	CCQ43873	(Get FASTA)	NCBI Sequence Viewer
	EAW93041	(Get FASTA)	NCBI Sequence Viewer
	EAW93042	(Get FASTA)	NCBI Sequence Viewer
	EAW93043	(Get FASTA)	NCBI Sequence Viewer
	EAW93044	(Get FASTA)	NCBI Sequence Viewer
	EAW93045	(Get FASTA)	NCBI Sequence Viewer
	EAW93046	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000333113
	ENSP00000333113.4
	ENSP00000370949
	ENSP00000370949.3
	ENSP00000422037
	ENSP00000422037.1
	ENSP00000425812.1
GenBank Protein	Q6ZNB6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_694540 ⟸ NM_152995

- UniProtKB:

Q8WVH1 (UniProtKB/Swiss-Prot), Q86VG1 (UniProtKB/Swiss-Prot), Q6ZNB6 (UniProtKB/Swiss-Prot), B1Q2K1 (UniProtKB/Swiss-Prot), B1Q2B0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MEASWRQVAGGRGRSRGRATAAPSGNGVHLRGAGGGREKGSVGAVPSGTSPGGVATTAAAGSRH
SPAGSQALQTTAASELMSQKKFEEIKKANQAAARKLVEEQFSSSSEEGDEDFEGKQGKILANTF
ITYTTQTDGDTRELERTKQYVNEAFQAGAMTCLICIASVKRNQAVWSCSGCFCIFHMPCIQKWA
KDSQFLVSSVTDDDFGKKDCPWPCPKCRFEYKRSETPSRYYCYCGKVEDPPLDPWLVPHSCGQV
CEREFKPPCGHKCLLLCHPGPCPPCPKMVTTTCYCKKAKPIPRRCSAKEWSCQLPCGQKLLCGQ
HKCENPCHAGSCQPCPRVSRQKCVCGKKVAERSCASPLWHCDQVCGKTLPCGNHTCEQVCHVGA
CGECPRSGKRFCPCQKSKFSLPCTEDVPTCGDSCDKVLECGIHRCSQRCHRGPCETCRQEVEKH
CRCGKHTKRMPCHKPYLCETKCVKMRDCQKHQCRRKCCPGNCPPCDQNCGRTLGCRNHKCPSVC
HRGSCYPCPETVDVKCNCGNTKVTVPCGRERTTRPPKCKEQCSRPPTCHHTSQEKHRCHFGSCP
PCHQPCQKVLEKCGHLCPAPCHDQALIKQTGRHQPTGPWEQPSEPAFIQTALPCPPCQVPIPME
CLGKHEVSPLPCHAVGPYSCKRVCGRILDCQNHTCMKECHKVTKTDGCTGKNKAGPECLHCEEG
CSKSRPLGCLHPCILRCHPGECPPCVQMLRIKCHCKITSLYVECRKITTADVNEKNLLSCCKNQ
CPKELPCGHRCKEMCHPGECPFNCNQKVKLRCPCKRIKKELQCNKVRENQVSIECDTTCKEMKR
KASEIKEAEAKAALEEEKRRQQAELEAFENRLKGRRKKNRKRDEVAVELSLWQKHKYYLISVCG
VVVVVFAWYITHDVN

hide sequence

RefSeq Acc Id:

NP_001265552 ⟸ NM_001278623

- UniProtKB:

Q8WVH1 (UniProtKB/Swiss-Prot), Q86VG1 (UniProtKB/Swiss-Prot), Q6ZNB6 (UniProtKB/Swiss-Prot), B1Q2K1 (UniProtKB/Swiss-Prot), B1Q2B0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MEASWRQVAGGRGRSRGRATAAPSGNGVHLRGAGGGREKGSVGAVPSGTSPGGVATTAAAGSRH
SPAGSQALQTTAASELMSQKKFEEIKKANQAAARKLVEEQFSSSSEEGDEDFEGKQGKILANTF
ITYTTQTDGDTRELERTKQYVNEAFQAGAMTCLICIASVKRNQAVWSCSGCFCIFHMPCIQKWA
KDSQFLVSSVTDDDFGKKDCPWPCPKCRFEYKRSETPSRYYCYCGKVEDPPLDPWLVPHSCGQV
CEREFKPPCGHKCLLLCHPGPCPPCPKMVTTTCYCKKAKPIPRRCSAKEWSCQLPCGQKLLCGQ
HKCENPCHAGSCQPCPRVSRQKCVCGKKVAERSCASPLWHCDQVCGKTLPCGNHTCEQVCHVGA
CGECPRSGKRFCPCQKSKFSLPCTEDVPTCGDSCDKVLECGIHRCSQRCHRGPCETCRQEVEKH
CRCGKHTKRMPCHKPYLCETKCVKMRDCQKHQCRRKCCPGNCPPCDQNCGRTLGCRNHKCPSVC
HRGSCYPCPETVDVKCNCGNTKVTVPCGRERTTRPPKCKEQCSRPPTCHHTSQEKHRCHFGSCP
PCHQPCQKVLEKCGHLCPAPCHDQALIKQTGRHQPTGPWEQPSEPAFIQTALPCPPCQVPIPME
CLGKHEVSPLPCHAVGPYSCKRVCGRILDCQNHTCMKECHKVTKTDGCTGKNKAGPECLHCEEG
CSKSRPLGCLHPCILRCHPGECPPCVQMLRIKCHCKITSLYVECRKITTADVNEKNLLSCCKNQ
CPKELPCGHRCKEMCHPGECPFNCNQKVKLRCPCKRIKKELQCNKVRENQVSIECDTTCKEMKR
KASEIKEAEAKAALEEEKRRQQAELEAFENRLKGRRKKNRKRDEVAVELSLWQKHKYYLISVCG
VVVVVFAWYITHDVN

hide sequence

RefSeq Acc Id:

NP_001265553 ⟸ NM_001278624

- UniProtKB:

Q8WVH1 (UniProtKB/Swiss-Prot), Q86VG1 (UniProtKB/Swiss-Prot), Q6ZNB6 (UniProtKB/Swiss-Prot), B1Q2K1 (UniProtKB/Swiss-Prot), B1Q2B0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MEASWRQVAGGRGRSRGRATAAPSGNGVHLRGAGGGREKGSVGAVPSGTSPGGVATTAAAGSRH
SPAGSQALQTTAASELMSQKKFEEIKKANQAAARKLVEEQFSSSSEEGDEDFEGKQGKILANTF
ITYTTQTDGDTRELERTKQYVNEAFQAGAMTCLICIASVKRNQAVWSCSGCFCIFHMPCIQKWA
KDSQFLVSSVTDDDFGKKDCPWPCPKCRFEYKRSETPSRYYCYCGKVEDPPLDPWLVPHSCGQV
CEREFKPPCGHKCLLLCHPGPCPPCPKMVTTTCYCKKAKPIPRRCSAKEWSCQLPCGQKLLCGQ
HKCENPCHAGSCQPCPRVSRQKCVCGKKVAERSCASPLWHCDQVCGKTLPCGNHTCEQVCHVGA
CGECPRSGKRFCPCQKSKFSLPCTEDVPTCGDSCDKVLECGIHRCSQRCHRGPCETCRQEVEKH
CRCGKHTKRMPCHKPYLCETKCVKMRDCQKHQCRRKCCPGNCPPCDQNCGRTLGCRNHKCPSVC
HRGSCYPCPETVDVKCNCGNTKVTVPCGRERTTRPPKCKEQCSRPPTCHHTSQEKHRCHFGSCP
PCHQPCQKVLEKCGHLCPAPCHDQALIKQTGRHQPTGPWEQPSEPAFIQTALPCPPCQVPIPME
CLGKHEVSPLPCHAVGPYSCKRVCGRILDCQNHTCMKECHKVTKTDGCTGKNKAGPECLHCEEG
CSKSRPLGCLHPCILRCHPGECPPCVQMLRIKCHCKITSLYVECRKITTADVNEKNLLSCCKNQ
CPKELPCGHRCKEMCHPGECPFNCNQKVKLRCPCKRIKKELQCNKVRENQVSIECDTTCKEMKR
KASEIKEAEAKAALEEEKRRQQAELEAFENRLKGRRKKNRKRDEVAVELSLWQKHKYYLISVCG
VVVVVFAWYITHDVN

hide sequence

Ensembl Acc Id:

ENSP00000425812 ⟸ ENST00000464756

Ensembl Acc Id:

ENSP00000422037 ⟸ ENST00000507489

Ensembl Acc Id:

ENSP00000333113 ⟸ ENST00000329043

Ensembl Acc Id:

ENSP00000370949 ⟸ ENST00000381538

Protein Domains

RING-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6ZNB6-F1-model_v2	AlphaFold	Q6ZNB6	1-911	view protein structure

Promoters

RGD ID:

6802389

Promoter ID:

HG_KWN:48170

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat

Transcripts:

UC003GXO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	47,575,401 - 47,575,901 (-)	MPROMDB

RGD ID:

6802489

Promoter ID:

HG_KWN:48172

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:

ENST00000329043, NM_152995, OTTHUMT00000250490, UC010IGH.1, UC010IGI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	47,611,061 - 47,611,561 (-)	MPROMDB

RGD ID:

6867356

Promoter ID:

EPDNEW_H6843

Type:

initiation region

Name:

NFXL1_1

Description:

nuclear transcription factor, X-box binding like 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	47,914,583 - 47,914,643	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18726	AgrOrtholog
COSMIC	NFXL1	COSMIC
Ensembl Genes	ENSG00000170448	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000329043	ENTREZGENE
	ENST00000329043.7	UniProtKB/Swiss-Prot
	ENST00000381538	ENTREZGENE
	ENST00000381538.7	UniProtKB/Swiss-Prot
	ENST00000464756	ENTREZGENE
	ENST00000464756.6	UniProtKB/Swiss-Prot
	ENST00000507489	ENTREZGENE
	ENST00000507489.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000170448	GTEx
HGNC ID	HGNC:18726	ENTREZGENE
Human Proteome Map	NFXL1	Human Proteome Map
InterPro	NFX1_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_NFX1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:152518	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	NFXL1	ENTREZGENE
OMIM	620488	OMIM
PANTHER	NF-X1-TYPE ZINC FINGER PROTEIN NFXL1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12360	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	zf-NF-X1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38661	PharmGKB
PROSITE	ZF_RING_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ZnF_NFX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B1Q2B0	ENTREZGENE, UniProtKB/TrEMBL
	B1Q2K1	ENTREZGENE
	L8EBF0_HUMAN	UniProtKB/TrEMBL
	NFXL1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q86VG1	ENTREZGENE
	Q8WVH1	ENTREZGENE
UniProt Secondary	B1Q2K1	UniProtKB/Swiss-Prot
	Q86VG1	UniProtKB/Swiss-Prot
	Q8WVH1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-07	NFXL1	nuclear transcription factor, X-box binding like 1		nuclear transcription factor, X-box binding-like 1	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)

Send us a Message

Imported Disease Annotations - CTD