ZFP1 (ZFP1 zinc finger protein) - Rat Genome Database

Name: ZFP1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: ZFP1 (ZFP1 zinc finger protein) Homo sapiens

Analyze

Symbol:

ZFP1

Name:

ZFP1 zinc finger protein

RGD ID:

1351790

HGNC Page

HGNC:23328

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of PcG protein complex and transcription regulator complex. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ34243; zfp-1; zinc finger protein 1 homolog; zinc finger protein 475; ZNF475

RGD Orthologs

Alliance Genes

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	16	75,119,002 - 75,172,234 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	75,148,494 - 75,172,236 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	75,182,422 - 75,206,132 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	73,739,922 - 73,763,633 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	73,739,925 - 73,763,486	NCBI
Celera	16	59,475,364 - 59,499,098 (+)	NCBI		Celera
Cytogenetic Map	16	q23.1	NCBI
HuRef	16	60,933,122 - 60,956,836 (+)	NCBI		HuRef
CHM1_1	16	76,594,604 - 76,618,256 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	81,165,700 - 81,218,965 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

macular corneal dystrophy (IAGP)

paraplegia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

4,4'-diaminodiphenylmethane (ISO)

acrolein (EXP)

acrylamide (ISO)

alpha-pinene (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (ISO)

bisphenol A (ISO)

choline (ISO)

copper(II) sulfate (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

folic acid (ISO)

formaldehyde (EXP)

gentamycin (ISO)

L-methionine (ISO)

methamphetamine (ISO)

methylmercury chloride (EXP)

ozone (EXP,ISO)

paracetamol (ISO)

phenylmercury acetate (EXP)

SB 431542 (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

triptonide (ISO)

troglitazone (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA,IEA)

Cellular Component

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

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

metal ion binding (IEA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

sequence-specific double-stranded DNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Spastic paraplegia (IAGP)

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:2574853	PMID:12477932	PMID:14702039	PMID:15342556	PMID:15489334	PMID:16344560	PMID:19844255	PMID:20360068	PMID:20562864	PMID:21540836	PMID:21873635	PMID:25086665
PMID:26186194	PMID:26496610	PMID:28473536	PMID:28514442	PMID:30021884	PMID:31753913	PMID:32296183	PMID:33961781	PMID:34079125	PMID:34672954	PMID:35271311	PMID:35563538
PMID:36089195	PMID:37827155

Genomics

Comparative Map Data

ZFP1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	75,119,002 - 75,172,234 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	75,148,494 - 75,172,236 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	75,182,422 - 75,206,132 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	73,739,922 - 73,763,633 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	73,739,925 - 73,763,486	NCBI
Celera	16	59,475,364 - 59,499,098 (+)	NCBI		Celera
Cytogenetic Map	16	q23.1	NCBI
HuRef	16	60,933,122 - 60,956,836 (+)	NCBI		HuRef
CHM1_1	16	76,594,604 - 76,618,256 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	81,165,700 - 81,218,965 (+)	NCBI		T2T-CHM13v2.0

Zfp1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	112,366,606 - 112,397,740 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	112,370,033 - 112,397,643 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	111,643,443 - 111,671,108 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	111,643,401 - 111,671,011 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	114,167,343 - 114,194,911 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	114,530,116 - 114,557,684 (+)	NCBI		MGSCv36	mm8
Celera	8	115,871,013 - 115,898,936 (+)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	57.98	NCBI

Zfp1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	56,508,828 - 56,542,109 (+)	NCBI		GRCr8
mRatBN7.2	19	39,599,497 - 39,633,490 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	39,599,954 - 39,632,995 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	46,399,286 - 46,431,714 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	47,052,614 - 47,085,039 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	49,357,102 - 49,389,996 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	43,852,707 - 43,886,907 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	43,882,249 - 43,885,837 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	54,660,333 - 54,694,879 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	41,578,221 - 41,591,204 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	19	38,977,483 - 39,011,456 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Zfp1
(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_004955484	2,421,119 - 2,437,127 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	2,419,119 - 2,444,345 (-)	NCBI	ChiLan1.0	ChiLan1.0

ZFP1
(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	18	84,865,880 - 84,890,131 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	90,787,818 - 90,812,099 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	55,717,256 - 55,741,496 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	75,068,184 - 75,091,710 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	75,068,184 - 75,091,710 (+)	Ensembl	panpan1.1		panPan2

ZFP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	75,542,012 - 75,568,948 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	75,543,677 - 75,568,845 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	75,518,367 - 75,545,367 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	75,898,296 - 75,925,298 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	75,898,301 - 75,925,288 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	75,802,709 - 75,829,735 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	75,625,440 - 75,652,460 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	76,117,069 - 76,143,961 (-)	NCBI		UU_Cfam_GSD_1.0

Zfp1
(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_024409349	35,635,625 - 35,659,959 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	23,935,594 - 23,953,465 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	23,935,588 - 23,953,489 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZFP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	12,480,278 - 12,531,530 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	12,480,298 - 12,549,476 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	12,297,108 - 12,364,225 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ZFP1
(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	5	60,623,681 - 60,648,779 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666047	15,408,411 - 15,437,918 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Zfp1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624746	11,792,354 - 11,841,460 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ZFP1
33 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	copy number gain	See cases [RCV000052422]	Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	copy number loss	See cases [RCV000053356]	Chr16:69918076..76723348 [GRCh38] Chr16:69951979..76757245 [GRCh37] Chr16:68509480..75314746 [NCBI36] Chr16:16q22.1-23.1	pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	copy number loss	See cases [RCV000053357]	Chr16:73049467..82576326 [GRCh38] Chr16:73083366..82609931 [GRCh37] Chr16:71640867..81167432 [NCBI36] Chr16:16q22.3-23.3	pathogenic
GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]\|See cases [RCV000053358]	Chr16:75163906..78064640 [GRCh38] Chr16:75197804..78098537 [GRCh37] Chr16:73755305..76656038 [NCBI36] Chr16:16q23.1	pathogenic
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	copy number gain	See cases [RCV000053868]	Chr16:73917167..75319927 [GRCh38] Chr16:73951066..75353825 [GRCh37] Chr16:72508567..73911326 [NCBI36] Chr16:16q22.3-23.1	uncertain significance
GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	copy number gain	See cases [RCV000053893]	Chr16:74658508..75378014 [GRCh38] Chr16:74692406..75411912 [GRCh37] Chr16:73249907..73969413 [NCBI36] Chr16:16q23.1	uncertain significance
NM_153688.2(ZFP1):c.217C>T (p.Leu73Phe)	single nucleotide variant	Malignant melanoma [RCV000071228]	Chr16:75169327 [GRCh38] Chr16:75203225 [GRCh37] Chr16:73760726 [NCBI36] Chr16:16q23.1	not provided
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	copy number loss	See cases [RCV000133814]	Chr16:70414573..84908120 [GRCh38] Chr16:70448476..84941726 [GRCh37] Chr16:69005977..83499227 [NCBI36] Chr16:16q22.1-24.1	pathogenic
GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	copy number loss	See cases [RCV000135363]	Chr16:74881191..75310294 [GRCh38] Chr16:74915089..75344192 [GRCh37] Chr16:73472590..73901693 [NCBI36] Chr16:16q23.1	uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	copy number gain	See cases [RCV000135863]	Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1	pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	copy number gain	See cases [RCV000137495]	Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	copy number gain	See cases [RCV000139130]	Chr16:74811982..75698467 [GRCh38] Chr16:74845880..75732365 [GRCh37] Chr16:73403381..74289866 [NCBI36] Chr16:16q23.1	uncertain significance
GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	copy number gain	See cases [RCV000141922]	Chr16:74688486..75377736 [GRCh38] Chr16:74722384..75411634 [GRCh37] Chr16:73279885..73969135 [NCBI36] Chr16:16q23.1	uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	copy number gain	See cases [RCV000142038]	Chr16:69053457..83274681 [GRCh38] Chr16:69087360..83308286 [GRCh37] Chr16:67644861..81865787 [NCBI36] Chr16:16q22.1-23.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	copy number gain	See cases [RCV000143742]	Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3	pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	copy number gain	See cases [RCV000240108]	Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207182]	Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3	uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	copy number loss	See cases [RCV000512133]	Chr16:74150909..77077326 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_153688.4(ZFP1):c.352G>C (p.Asp118His)	single nucleotide variant	Inborn genetic diseases [RCV003278108]	Chr16:75169462 [GRCh38] Chr16:75203360 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
GRCh37/hg19 16q23.1(chr16:75040327-75237490)x1	copy number loss	not provided [RCV000683833]	Chr16:75040327..75237490 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	copy number gain	not provided [RCV000683831]	Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q23.1(chr16:74999819-75248871)x4	copy number gain	not provided [RCV001006807]	Chr16:74999819..75248871 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	copy number loss	not provided [RCV001006805]	Chr16:74356233..75432089 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	copy number loss	not provided [RCV000847084]	Chr16:72677179..77439111 [GRCh37] Chr16:16q22.2-23.1	uncertain significance
NM_153688.4(ZFP1):c.467C>T (p.Ser156Phe)	single nucleotide variant	Inborn genetic diseases [RCV003272528]	Chr16:75169577 [GRCh38] Chr16:75203475 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1	copy number loss	not provided [RCV001258649]	Chr16:75064591..75549654 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_74748068)_(75513746_?)del	deletion	Macular corneal dystrophy [RCV001949688]	Chr16:74748068..75513746 [GRCh37] Chr16:16q23.1	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NC_000016.9:g.(?_74485954)_(75339100_?)dup	duplication	Spastic paraplegia [RCV003122645]	Chr16:74485954..75339100 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	copy number gain	Syndromic anorectal malformation [RCV002286607]	Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3	likely pathogenic
GRCh37/hg19 16q23.1(chr16:75164013-75256868)x1	copy number loss	not provided [RCV002472465]	Chr16:75164013..75256868 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	copy number gain	not provided [RCV002475008]	Chr16:73673334..76105189 [GRCh37] Chr16:16q22.3-23.1	uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	copy number loss	not provided [RCV002475848]	Chr16:73858079..75855162 [GRCh37] Chr16:16q22.3-23.1	uncertain significance
NM_153688.4(ZFP1):c.224A>G (p.Asn75Ser)	single nucleotide variant	Inborn genetic diseases [RCV002837407]	Chr16:75169334 [GRCh38] Chr16:75203232 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	copy number loss	not provided [RCV002475774]	Chr16:73673334..78137887 [GRCh37] Chr16:16q22.3-23.1	uncertain significance
NM_153688.4(ZFP1):c.395A>G (p.Asp132Gly)	single nucleotide variant	Inborn genetic diseases [RCV002762804]	Chr16:75169505 [GRCh38] Chr16:75203403 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.1210G>A (p.Gly404Arg)	single nucleotide variant	Inborn genetic diseases [RCV002692926]	Chr16:75170320 [GRCh38] Chr16:75204218 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.302A>G (p.Gln101Arg)	single nucleotide variant	Inborn genetic diseases [RCV002768670]	Chr16:75169412 [GRCh38] Chr16:75203310 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.479A>G (p.Lys160Arg)	single nucleotide variant	Inborn genetic diseases [RCV002744371]	Chr16:75169589 [GRCh38] Chr16:75203487 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.371G>T (p.Arg124Ile)	single nucleotide variant	Inborn genetic diseases [RCV003195417]	Chr16:75169481 [GRCh38] Chr16:75203379 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.83C>G (p.Ser28Cys)	single nucleotide variant	Inborn genetic diseases [RCV003184429]	Chr16:75166837 [GRCh38] Chr16:75200735 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.1190T>G (p.Val397Gly)	single nucleotide variant	Inborn genetic diseases [RCV003192163]	Chr16:75170300 [GRCh38] Chr16:75204198 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.163C>A (p.Gln55Lys)	single nucleotide variant	Inborn genetic diseases [RCV003217774]	Chr16:75169273 [GRCh38] Chr16:75203171 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.47A>G (p.Asp16Gly)	single nucleotide variant	Inborn genetic diseases [RCV003190662]	Chr16:75166801 [GRCh38] Chr16:75200699 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.340A>G (p.Lys114Glu)	single nucleotide variant	Inborn genetic diseases [RCV003199947]	Chr16:75169450 [GRCh38] Chr16:75203348 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.1034C>T (p.Thr345Ile)	single nucleotide variant	Inborn genetic diseases [RCV003206566]	Chr16:75170144 [GRCh38] Chr16:75204042 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.514T>G (p.Phe172Val)	single nucleotide variant	Inborn genetic diseases [RCV003304516]	Chr16:75169624 [GRCh38] Chr16:75203522 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.144A>C (p.Glu48Asp)	single nucleotide variant	Inborn genetic diseases [RCV003383307]	Chr16:75169254 [GRCh38] Chr16:75203152 [GRCh37] Chr16:16q23.1	uncertain significance
NM_153688.4(ZFP1):c.449A>G (p.His150Arg)	single nucleotide variant	Inborn genetic diseases [RCV003376477]	Chr16:75169559 [GRCh38] Chr16:75203457 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	copy number gain	not provided [RCV003485121]	Chr16:70607067..81561138 [GRCh37] Chr16:16q22.1-23.2	pathogenic
NM_153688.4(ZFP1):c.67G>C (p.Glu23Gln)	single nucleotide variant	not provided [RCV003411424]	Chr16:75166821 [GRCh38] Chr16:75200719 [GRCh37] Chr16:16q23.1	likely benign
NM_153688.4(ZFP1):c.6C>T (p.Asn2=)	single nucleotide variant	not provided [RCV003426844]	Chr16:75152957 [GRCh38] Chr16:75186855 [GRCh37] Chr16:16q23.1	likely benign
GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	copy number loss	not specified [RCV003987133]	Chr16:74079694..75352818 [GRCh37] Chr16:16q22.3-23.1	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3515
Count of miRNA genes:	886
Interacting mature miRNAs:	1051
Transcripts:	ENST00000332307, ENST00000393430, ENST00000464850, ENST00000563356, ENST00000564989, ENST00000566105, ENST00000567481, ENST00000568079, ENST00000570010
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

RH102867

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	75,205,566 - 75,205,736	UniSTS	GRCh37
Build 36	16	73,763,067 - 73,763,237	RGD	NCBI36
Celera	16	59,498,532 - 59,498,702	RGD
Cytogenetic Map	16	q23.1	UniSTS
HuRef	16	60,956,270 - 60,956,440	UniSTS
GeneMap99-GB4 RH Map	16	446.95	UniSTS

SHGC-57025

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	75,205,569 - 75,205,875	UniSTS	GRCh37
Build 36	16	73,763,070 - 73,763,376	RGD	NCBI36
Celera	16	59,498,535 - 59,498,841	RGD
Cytogenetic Map	16	q23.1	UniSTS
HuRef	16	60,956,273 - 60,956,579	UniSTS
TNG Radiation Hybrid Map	16	33873.0	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

179

178

192

609

354

1035

118

298

304

145

Low

2260

2545

1534

534

1092

372

4003

2081

2699

301

1162

1309

166

1190

2643

Below cutoff

268

250

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001318469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_153688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011522921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047433668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047433669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047433670	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054379708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054379709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054379710	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054379711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC099508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL038510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL038511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL538214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC114471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC127184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP219674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA781502	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB075594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC371394	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC388176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC402593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000332307 ⟹ ENSP00000333192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,534 - 75,170,517 (+)	Ensembl

RefSeq Acc Id:

ENST00000393430 ⟹ ENSP00000377080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,582 - 75,172,236 (+)	Ensembl

RefSeq Acc Id:

ENST00000464850 ⟹ ENSP00000457941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,527 - 75,172,000 (+)	Ensembl

RefSeq Acc Id:

ENST00000563356

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,494 - 75,169,402 (+)	Ensembl

RefSeq Acc Id:

ENST00000564989

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,510 - 75,149,008 (+)	Ensembl

RefSeq Acc Id:

ENST00000566105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,494 - 75,149,012 (+)	Ensembl

RefSeq Acc Id:

ENST00000567481 ⟹ ENSP00000455627

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,149,051 - 75,169,326 (+)	Ensembl

RefSeq Acc Id:

ENST00000568079 ⟹ ENSP00000454286

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,494 - 75,170,470 (+)	Ensembl

RefSeq Acc Id:

ENST00000570010 ⟹ ENSP00000457044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,148,524 - 75,172,234 (+)	Ensembl

RefSeq Acc Id:

NM_001318469 ⟹ NP_001305398

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGGTACGAGA
GGGGCTTCCAGTTCTGCCTTCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAAT
CCCAGGGATCAGTTTCATTCACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACT
GGACCCCTCTCAGAGGATCCTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCA
GTGGAAGTGTGGAAGGCTGATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGA
GGCAATTTTTAATTCTTAAGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGC
ACTTAATCTGAACACAGACTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAA
AAAACTTTGAAATATAATTCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTG
ATGAGTGTAATGAATTTGGAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGT
AGAATATTCTGAATACAATAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACAT
CAGAAAATAAAAAACTTGGTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTA
AGTCACTCCTCATTAGTCATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATG
TAAGAAAACCTTCTCCCATAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAA
CCTTTCGAGTGTCCGGAATGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGA
GAGCACATATGGAGAAGAAGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTT
TGAACTCACCACACACCAGAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCA
AAAACCTTCTTTAAGAAGTCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCT
ATGAGTGCAGTGAATGTGGAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAAC
TCATACAGGAGAGAAACCCTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACT
CTTAGATTACACTTGCGAATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGG
CCTTTAGCAGGAAGTCCCGACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAA
CTCCAGCCAGGTCTTACTGTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCAT
GACAGTATTGAGGGAACATGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTA
AAAATAGGATCCCATGAGAACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACAT
ATCAGAATATATCCAGTTGTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCT
TGAATGAATTGAGTATTCTAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAG
TGGTTTTATGTGGATATGCCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTA
GCATAATCACTGGGAATTTGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCC
ATACTAAACATCACATGTGTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGT
GTAACATTTAAAGTAGCATGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGG
TATGAACATTGTTCTTGAGCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTT
CTGGTTTGCTGAAGATTTTCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGAT
CTATAACGTGAAGGAGGCAGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTG
CCGTGTAAAGACAATATCCCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAA
TGCATGTCTGTTACCAAAATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTG
TTTCCCTTAATATTTCATGAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATG
TTACATTTCAGAGACTTTAGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTT
TAAATTTTTCACGTGCATAACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGG
AGGCATTTCTACTTCCTTGAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAG
TTATAAGTTATTACTTTTCCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTC
TCTCCAGATATTAACAAGAATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAA
ATTCTTAAGTTCAGCCTTTCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACC
AAAAACTGGCTTTTAAAAAATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGT
GACTTTCTGAACAAATTTATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATC
TTACTTACTCACAAAGGAGGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTA
ACAGCCTCCTTGGACAACATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAAT
CTCCTGGGAATCTATCCCTAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATG
TATATTGTATTTTTTGGTAAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATG
GATGAATAAATTGTGGTAAAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGG
GAACAAACTCCAAACTTCTCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGT
GTGTGTGTAGCAGTTTTTATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

NM_001318471 ⟹ NP_001305400

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGTTCTGCCT
TCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAATCCCAGCGTCTCTTTTTTGG
ATTACTGTTGTTTTATTGAAGTACATGCTTCAGCAGCTTCTTGAGAAAGGGTTTGTGAGAGGGA
TCAGTTTCATTCACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACTGGACCCCT
CTCAGAGGATCCTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCAGTGGAAGT
GTGGAAGGCTGATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGGCAATTT
TTAATTCTTAAGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTTAATC
TGAACACAGACTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAAAAAACTTT
GAAATATAATTCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGATGAGTGT
AATGAATTTGGAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAATATT
CTGAATACAATAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCAGAAAAT
AAAAAACTTGGTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTCACTC
CTCATTAGTCATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATGTAAGAAAA
CCTTCTCCCATAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACCTTTCGA
GTGTCCGGAATGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGAGCACAT
ATGGAGAAGAAGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAACTCA
CCACACACCAGAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAAAACCTT
CTTTAAGAAGTCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCTATGAGTGC
AGTGAATGTGGAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAACTCATACAG
GAGAGAAACCCTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTAGATT
ACACTTGCGAATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCCTTTAGC
AGGAAGTCCCGACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACTCCAGCC
AGGTCTTACTGTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGACAGTAT
TGAGGGAACATGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAAAATAGG
ATCCCATGAGAACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACATATCAGAAT
ATATCCAGTTGTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTGAATGAA
TTGAGTATTCTAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAGTGGTTTTA
TGTGGATATGCCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGCATAATC
ACTGGGAATTTGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCATACTAAA
CATCACATGTGTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGTAACATT
TAAAGTAGCATGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTATGAACA
TTGTTCTTGAGCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGGTTTG
CTGAAGATTTTCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGATCTATAACG
TGAAGGAGGCAGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCCGTGTAA
AGACAATATCCCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATGCATGTC
TGTTACCAAAATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTCCCTT
AATATTTCATGAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTTACATTT
CAGAGACTTTAGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTAAATTTT
TCACGTGCATAACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAGGCATTT
CTACTTCCTTGAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTTATAAGT
TATTACTTTTCCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTCCAGA
TATTAACAAGAATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAATTCTTAA
GTTCAGCCTTTCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACCAAAAACTG
GCTTTTAAAAAATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGTGACTTTCT
GAACAAATTTATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTACTTAC
TCACAAAGGAGGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAACAGCCTC
CTTGGACAACATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAATCTCCTGGG
AATCTATCCCTAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTATATTGT
ATTTTTTGGTAAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGATGAATA
AATTGTGGTAAAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGAACAAAC
TCCAAACTTCTCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGTGTGT
AGCAGTTTTTATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

NM_001318472 ⟹ NP_001305401

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGGGATCAGT
TTCATTCACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACTGGACCCCTCTCAG
AGGATCCTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCAGTGGAAGTGTGGA
AGGCTGATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGGCAATTTTTAAT
TCTTAAGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTTAATCTGAAC
ACAGACTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAAAAAACTTTGAAAT
ATAATTCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGATGAGTGTAATGA
ATTTGGAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAATATTCTGAA
TACAATAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCAGAAAATAAAAA
ACTTGGTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTCACTCCTCAT
TAGTCATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATGTAAGAAAACCTTC
TCCCATAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACCTTTCGAGTGTC
CGGAATGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGAGCACATATGGA
GAAGAAGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAACTCACCACA
CACCAGAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAAAACCTTCTTTA
AGAAGTCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCTATGAGTGCAGTGA
ATGTGGAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAACTCATACAGGAGAG
AAACCCTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTAGATTACACT
TGCGAATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCCTTTAGCAGGAA
GTCCCGACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACTCCAGCCAGGTC
TTACTGTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGACAGTATTGAGG
GAACATGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAAAATAGGATCCC
ATGAGAACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACATATCAGAATATATC
CAGTTGTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTGAATGAATTGAG
TATTCTAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAGTGGTTTTATGTGG
ATATGCCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGCATAATCACTGG
GAATTTGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCATACTAAACATCA
CATGTGTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGTAACATTTAAAG
TAGCATGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTATGAACATTGTT
CTTGAGCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGGTTTGCTGAA
GATTTTCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGATCTATAACGTGAAG
GAGGCAGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCCGTGTAAAGACA
ATATCCCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATGCATGTCTGTTA
CCAAAATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTCCCTTAATAT
TTCATGAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTTACATTTCAGAG
ACTTTAGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTAAATTTTTCACG
TGCATAACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAGGCATTTCTACT
TCCTTGAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTTATAAGTTATTA
CTTTTCCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTCCAGATATTA
ACAAGAATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAATTCTTAAGTTCA
GCCTTTCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACCAAAAACTGGCTTT
TAAAAAATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGTGACTTTCTGAACA
AATTTATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTACTTACTCACA
AAGGAGGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAACAGCCTCCTTGG
ACAACATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAATCTCCTGGGAATCT
ATCCCTAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTATATTGTATTTT
TTGGTAAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGATGAATAAATTG
TGGTAAAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGAACAAACTCCAA
ACTTCTCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGTGTGTAGCAG
TTTTTATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

NM_001318473 ⟹ NP_001305402

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGGTACGAGA
GGGGCTTCCAGTTCTGCCTTCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAAT
CCCAGAAGTGTGGAAGGCTGATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCG
AGGCAATTTTTAATTCTTAAGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAG
CACTTAATCTGAACACAGACTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGA
AAAAACTTTGAAATATAATTCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACT
GATGAGTGTAATGAATTTGGAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAG
TAGAATATTCTGAATACAATAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACA
TCAGAAAATAAAAAACTTGGTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTT
AAGTCACTCCTCATTAGTCATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTAT
GTAAGAAAACCTTCTCCCATAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAA
ACCTTTCGAGTGTCCGGAATGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAG
AGAGCACATATGGAGAAGAAGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGT
TTGAACTCACCACACACCAGAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGC
AAAAACCTTCTTTAAGAAGTCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGC
TATGAGTGCAGTGAATGTGGAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAA
CTCATACAGGAGAGAAACCCTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAAC
TCTTAGATTACACTTGCGAATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAG
GCCTTTAGCAGGAAGTCCCGACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAA
ACTCCAGCCAGGTCTTACTGTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCA
TGACAGTATTGAGGGAACATGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATT
AAAAATAGGATCCCATGAGAACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACA
TATCAGAATATATCCAGTTGTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATC
TTGAATGAATTGAGTATTCTAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTA
GTGGTTTTATGTGGATATGCCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTT
AGCATAATCACTGGGAATTTGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTC
CATACTAAACATCACATGTGTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATG
TGTAACATTTAAAGTAGCATGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTG
GTATGAACATTGTTCTTGAGCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCT
TCTGGTTTGCTGAAGATTTTCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGA
TCTATAACGTGAAGGAGGCAGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTT
GCCGTGTAAAGACAATATCCCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAA
ATGCATGTCTGTTACCAAAATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTT
GTTTCCCTTAATATTTCATGAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAAT
GTTACATTTCAGAGACTTTAGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTT
TTAAATTTTTCACGTGCATAACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAG
GAGGCATTTCTACTTCCTTGAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGA
GTTATAAGTTATTACTTTTCCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGT
CTCTCCAGATATTAACAAGAATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCA
AATTCTTAAGTTCAGCCTTTCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAAC
CAAAAACTGGCTTTTAAAAAATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAG
TGACTTTCTGAACAAATTTATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCAT
CTTACTTACTCACAAAGGAGGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGT
AACAGCCTCCTTGGACAACATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAA
TCTCCTGGGAATCTATCCCTAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAAT
GTATATTGTATTTTTTGGTAAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAAT
GGATGAATAAATTGTGGTAAAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTG
GGAACAAACTCCAAACTTCTCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATG
TGTGTGTGTAGCAGTTTTTATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

NM_001318474 ⟹ NP_001305403

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGTTCTGCCT
TCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAATCCCAGAAGTGTGGAAGGCT
GATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGGCAATTTTTAATTCTTA
AGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTTAATCTGAACACAGA
CTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAAAAAACTTTGAAATATAAT
TCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGATGAGTGTAATGAATTTG
GAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAATATTCTGAATACAA
TAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCAGAAAATAAAAAACTTG
GTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTCACTCCTCATTAGTC
ATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATGTAAGAAAACCTTCTCCCA
TAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACCTTTCGAGTGTCCGGAA
TGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGAGCACATATGGAGAAGA
AGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAACTCACCACACACCA
GAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAAAACCTTCTTTAAGAAG
TCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCTATGAGTGCAGTGAATGTG
GAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAACTCATACAGGAGAGAAACC
CTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTAGATTACACTTGCGA
ATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCCTTTAGCAGGAAGTCCC
GACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACTCCAGCCAGGTCTTACT
GTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGACAGTATTGAGGGAACA
TGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAAAATAGGATCCCATGAG
AACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACATATCAGAATATATCCAGTT
GTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTGAATGAATTGAGTATTC
TAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAGTGGTTTTATGTGGATATG
CCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGCATAATCACTGGGAATT
TGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCATACTAAACATCACATGT
GTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGTAACATTTAAAGTAGCA
TGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTATGAACATTGTTCTTGA
GCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGGTTTGCTGAAGATTT
TCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGATCTATAACGTGAAGGAGGC
AGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCCGTGTAAAGACAATATC
CCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATGCATGTCTGTTACCAAA
ATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTCCCTTAATATTTCAT
GAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTTACATTTCAGAGACTTT
AGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTAAATTTTTCACGTGCAT
AACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAGGCATTTCTACTTCCTT
GAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTTATAAGTTATTACTTTT
CCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTCCAGATATTAACAAG
AATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAATTCTTAAGTTCAGCCTT
TCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACCAAAAACTGGCTTTTAAAA
AATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGTGACTTTCTGAACAAATTT
ATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTACTTACTCACAAAGGA
GGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAACAGCCTCCTTGGACAAC
ATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAATCTCCTGGGAATCTATCCC
TAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTATATTGTATTTTTTGGT
AAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGATGAATAAATTGTGGTA
AAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGAACAAACTCCAAACTTC
TCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGTGTGTAGCAGTTTTT
ATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

NM_001318475 ⟹ NP_001305404

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,149,051 - 75,172,234 (+)	NCBI
CHM1_1	16	76,595,132 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,776 - 81,218,965 (+)	NCBI

Sequence:

show sequence

CTCGTGGGTGGAGGAAGGACTGGAGCCTGGTCAGTTGCCGGTGGTGAAGGAGAACCGTGATCCC
TTTGTCAGAGGGTCTTCAGTGAGGTGTTCCCCTGATCCTCGCATCCACCCCGTGACTTCCAGCG
TTATCATCTCCGTCGCTATCCCAGGAACACGGGAGGTTCAGAAGGGGAAAGTGATTTCCCTAAG
GTCTCACAACCCGGTGGTACTTTATTTCTGCCTTCATAGTTCTCTGCCTTTGCCCAAAACTGCA
GAAAATGAACAAATCCCAGGGATCAGTTTCATTCACGGATGTGACTGTGGACTTTACCCAGGAG
GAATGGGAACAACTGGACCCCTCTCAGAGGATCCTATACATGGATGTGATGCTGGAGAATTATA
GCAACTTACTTTCAGTGGGTAAGGACGGTTTTCAGAAGTGTGGAAGGCTGATGACCAGATGGAG
AGAGACCACAGAAACCCAGACGAGCAGGCGAGGCAATTTTTAATTCTTAAGAACCAAACCCCAA
TTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTTAATCTGAACACAGACTTTGTTTCTTTAAG
ACAAGTACCTTATAAATATGACTTATATGAAAAAACTTTGAAATATAATTCAGACTTGCTTAAT
AGTAATAGAAGCTATGCAGGAAAGCAGACTGATGAGTGTAATGAATTTGGAAAAGCACTTCTCT
ACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAATATTCTGAATACAATAAAAGTGGAAAAGC
CCTCAGCCATAAAGCAGCCATTTTTAAACATCAGAAAATAAAAAACTTGGTTCAACCTTTCATT
TGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTCACTCCTCATTAGTCATAAGAGAATACATA
CTGGAGAAAAGCCATATGAATGCAATGTATGTAAGAAAACCTTCTCCCATAAGGCCAACCTCAT
CAAACATCAGAGAATTCACACTGGGGAGAAACCTTTCGAGTGTCCGGAATGTGGAAAAGCTTTC
ACCCACCAGTCAAACCTCATTGTACACCAGAGAGCACATATGGAGAAGAAGCCCTATGAGTGCA
GTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAACTCACCACACACCAGAGAATTCATACAGG
AGAGCGACCCTATGAGTGTAACGAATGTGCAAAAACCTTCTTTAAGAAGTCAAACCTTATCATA
CATCAGAAGATTCACACGGGGGAGAAACGCTATGAGTGCAGTGAATGTGGAAAATCCTTTATCC
AGAACTCACAGCTCATCATACACATGAGAACTCATACAGGAGAGAAACCCTATGAATGTACTGA
GTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTAGATTACACTTGCGAATCCACACAGGAGAG
AAACCATATGAGTGTTCCGAATGTGGGAAGGCCTTTAGCAGGAAGTCCCGACTCAGTGTCCATC
AGAGAGTTCACATCGGGGAGAAACCCTGAAACTCCAGCCAGGTCTTACTGTGGAAAACTCCTGC
CAGAACTCTTCAAGCGGGTGAAAAACCTCATGACAGTATTGAGGGAACATGGGAATTCATACTG
AGATGCAATCTCTCAACTCAAAAATGTATTAAAAATAGGATCCCATGAGAACATTATACTGGAA
GTTACATGTGATACCCAGCTAAAGAATACATATCAGAATATATCCAGTTGTAAATAGCCATACC
CAGTTGTACTACAATGAGCTTTTTAAAATCTTGAATGAATTGAGTATTCTAGACAGCAGCATAA
GAAATATACAAACAGTATCCTATGAATTTAGTGGTTTTATGTGGATATGCCACAAAACACAAGT
GGTATGCTTTAGATCTGCACATGTGAATTTAGCATAATCACTGGGAATTTGAAATTCTTGTCCT
CTGTGATAATTAGGACATAACAAGATTTTCCATACTAAACATCACATGTGTTTTTCAGTATCTC
TGCAATCCAGTATGCATTCCAAATGAAATGTGTAACATTTAAAGTAGCATGGAACCTACGTCTT
TCCCTACTGCTTGCTGGCATATATCAGTTGGTATGAACATTGTTCTTGAGCTGCCTCTTAGGAA
ACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGGTTTGCTGAAGATTTTCTAGAAGCACTATT
TACACAAATATGCAAATGTGAAATAACCGATCTATAACGTGAAGGAGGCAGACATGAGCTGTAC
TACTCAGTATGCACCACAGAATAAGAGTTTGCCGTGTAAAGACAATATCCCCATTCGTCATGCT
CTTATTTTCCCGTGGGATATTTGCATACAAATGCATGTCTGTTACCAAAATATTGTGTAACACA
GACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTCCCTTAATATTTCATGAATTGTCTAGCAAA
AATGGTAGGATGCTTCTGTAGTTCACAAATGTTACATTTCAGAGACTTTAGAGGAAAAATTATT
TTAAATAACTGTCAACTGTTTCATTGCTTTTTAAATTTTTCACGTGCATAACCCCCTTTAGAAG
TAAATTTTTACACTATTTTGTTGTTTAAAGGAGGCATTTCTACTTCCTTGAGTTTTGCTGTTGC
CAACCTAAAACATTTCCCTTTGGAACATGAGTTATAAGTTATTACTTTTCCTTTACATGTTTAC
ACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTCCAGATATTAACAAGAATTGTTGTGTAACT
CAAAGATTTGCTTTTATAGACTTGATTTCAAATTCTTAAGTTCAGCCTTTCCCTATCAATCACA
AATCATGTATTGGAAATTATAAATGGCAACCAAAAACTGGCTTTTAAAAAATATTTTTGGATAT
CATTGATGTGCTGTCACACTATATATTGAGTGACTTTCTGAACAAATTTATCCAGAACATCCAT
AGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTACTTACTCACAAAGGAGGGGAAAACGTTATT
TTCATAGCTGCTTTTAGAAATGTAAATTGTAACAGCCTCCTTGGACAACATTGTGAGTCTGTTT
TAACATTAATATACTCTTACAACCTAGGAATCTCCTGGGAATCTATCCCTAAGGAATAAAAAGC
GCCAGCACTTAAGATTATATGTTTACTAATGTATATTGTATTTTTTGGTAAGGACCAAAAAAAC
AAACAAAAAAAAGACCATCAGTAAGGGAATGGATGAATAAATTGTGGTAAAAACATACCATGGC
TGAATGGTATTTCCTTGAAAAGAATGTGTGGGAACAAACTCCAAACTTCTCTAGGTCAAATGAG
GAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGTGTGTAGCAGTTTTTATAAAATAAAGATAA
ACCCTTATA

hide sequence

RefSeq Acc Id:

NM_001318476 ⟹ NP_001305405

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGTTCTGCCT
TCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAATCCCAGGGATCAGTTTCATT
CACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACTGGACCCCTCTCAGAGGATC
CTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCAGTGGGTAAGGACGGTTTTC
AGAAGTGTGGAAGGCTGATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGG
CAATTTTTAATTCTTAAGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCAC
TTAATCTGAACACAGACTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAAAA
AACTTTGAAATATAATTCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGAT
GAGTGTAATGAATTTGGAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAG
AATATTCTGAATACAATAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCA
GAAAATAAAAAACTTGGTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAG
TCACTCCTCATTAGTCATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATGTA
AGAAAACCTTCTCCCATAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACC
TTTCGAGTGTCCGGAATGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGA
GCACATATGGAGAAGAAGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTG
AACTCACCACACACCAGAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAA
AACCTTCTTTAAGAAGTCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCTAT
GAGTGCAGTGAATGTGGAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAACTC
ATACAGGAGAGAAACCCTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCT
TAGATTACACTTGCGAATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCC
TTTAGCAGGAAGTCCCGACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACT
CCAGCCAGGTCTTACTGTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGA
CAGTATTGAGGGAACATGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAA
AATAGGATCCCATGAGAACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACATAT
CAGAATATATCCAGTTGTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTG
AATGAATTGAGTATTCTAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAGTG
GTTTTATGTGGATATGCCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGC
ATAATCACTGGGAATTTGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCAT
ACTAAACATCACATGTGTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGT
AACATTTAAAGTAGCATGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTA
TGAACATTGTTCTTGAGCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCT
GGTTTGCTGAAGATTTTCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGATCT
ATAACGTGAAGGAGGCAGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCC
GTGTAAAGACAATATCCCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATG
CATGTCTGTTACCAAAATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTT
TCCCTTAATATTTCATGAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTT
ACATTTCAGAGACTTTAGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTA
AATTTTTCACGTGCATAACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAG
GCATTTCTACTTCCTTGAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTT
ATAAGTTATTACTTTTCCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTC
TCCAGATATTAACAAGAATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAAT
TCTTAAGTTCAGCCTTTCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACCAA
AAACTGGCTTTTAAAAAATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGTGA
CTTTCTGAACAAATTTATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTT
ACTTACTCACAAAGGAGGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAAC
AGCCTCCTTGGACAACATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAATCT
CCTGGGAATCTATCCCTAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTA
TATTGTATTTTTTGGTAAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGA
TGAATAAATTGTGGTAAAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGA
ACAAACTCCAAACTTCTCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGT
GTGTGTAGCAGTTTTTATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

NM_153688 ⟹ NP_710155

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI
GRCh37	16	75,182,392 - 75,206,132 (+)	NCBI
Build 36	16	73,739,922 - 73,763,633 (+)	NCBI Archive
Celera	16	59,475,364 - 59,499,098 (+)	RGD
HuRef	16	60,933,122 - 60,956,836 (+)	RGD
CHM1_1	16	76,594,522 - 76,618,256 (+)	NCBI
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Sequence:

show sequence

GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGC
CCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAGTTCTGCCT
TCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAATCCCAGGGATCAGTTTCATT
CACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACTGGACCCCTCTCAGAGGATC
CTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCAGTGGAAGTGTGGAAGGCTG
ATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGGCAATTTTTAATTCTTAA
GAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTTAATCTGAACACAGAC
TTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAAAAAACTTTGAAATATAATT
CAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGATGAGTGTAATGAATTTGG
AAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAATATTCTGAATACAAT
AAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCAGAAAATAAAAAACTTGG
TTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTCACTCCTCATTAGTCA
TAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATGTAAGAAAACCTTCTCCCAT
AAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACCTTTCGAGTGTCCGGAAT
GTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGAGCACATATGGAGAAGAA
GCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAACTCACCACACACCAG
AGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAAAACCTTCTTTAAGAAGT
CAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCTATGAGTGCAGTGAATGTGG
AAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAACTCATACAGGAGAGAAACCC
TATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTAGATTACACTTGCGAA
TCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCCTTTAGCAGGAAGTCCCG
ACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACTCCAGCCAGGTCTTACTG
TGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGACAGTATTGAGGGAACAT
GGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAAAATAGGATCCCATGAGA
ACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACATATCAGAATATATCCAGTTG
TAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTGAATGAATTGAGTATTCT
AGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAGTGGTTTTATGTGGATATGC
CACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGCATAATCACTGGGAATTT
GAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCATACTAAACATCACATGTG
TTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGTAACATTTAAAGTAGCAT
GGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTATGAACATTGTTCTTGAG
CTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGGTTTGCTGAAGATTTT
CTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGATCTATAACGTGAAGGAGGCA
GACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCCGTGTAAAGACAATATCC
CCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATGCATGTCTGTTACCAAAA
TATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTCCCTTAATATTTCATG
AATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTTACATTTCAGAGACTTTA
GAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTAAATTTTTCACGTGCATA
ACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAGGCATTTCTACTTCCTTG
AGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTTATAAGTTATTACTTTTC
CTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTCCAGATATTAACAAGA
ATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAATTCTTAAGTTCAGCCTTT
CCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACCAAAAACTGGCTTTTAAAAA
ATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGTGACTTTCTGAACAAATTTA
TCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTACTTACTCACAAAGGAG
GGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAACAGCCTCCTTGGACAACA
TTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAATCTCCTGGGAATCTATCCCT
AAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTATATTGTATTTTTTGGTA
AGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGATGAATAAATTGTGGTAA
AAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGAACAAACTCCAAACTTCT
CTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGTGTGTAGCAGTTTTTA
TAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

XM_011522921 ⟹ XP_011521223

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,119,002 - 75,172,234 (+)	NCBI

Sequence:

show sequence

GACTACAGGCGTGCATCACCATGCCCAGAGTCAAGAAAACTTTTAAGCTATTTACAACTTTTAA
CAATTGAGTTAAGTATACTCAAGAACAAAATTCAGAGCATATTTGTTTCTCTCTACCTGATTTC
TACAGATTTTGGAAACTATTTGTGAGATGCTGGCCAGTACAACTTTCTGCTCTGATGGAACCAT
GCTAGATCTGCGCTTCCCACTTTGTAGCCAGTGGTCATGCATTGCTATGGAGCATTCAAAATGT
GGCTAAGTTCTGCCTTCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAATCCCA
GGGATCAGTTTCATTCACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACTGGAC
CCCTCTCAGAGGATCCTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCAGTGG
AAGTGTGGAAGGCTGATGACCAGATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGGCA
ATTTTTAATTCTTAAGAACCAAACCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTT
AATCTGAACACAGACTTTGTTTCTTTAAGACAAGTACCTTATAAATATGACTTATATGAAAAAA
CTTTGAAATATAATTCAGACTTGCTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGATGA
GTGTAATGAATTTGGAAAAGCACTTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAA
TATTCTGAATACAATAAAAGTGGAAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCAGA
AAATAAAAAACTTGGTTCAACCTTTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTC
ACTCCTCATTAGTCATAAGAGAATACATACTGGAGAAAAGCCATATGAATGCAATGTATGTAAG
AAAACCTTCTCCCATAAGGCCAACCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACCTT
TCGAGTGTCCGGAATGTGGAAAAGCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGAGC
ACATATGGAGAAGAAGCCCTATGAGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAA
CTCACCACACACCAGAGAATTCATACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAAAA
CCTTCTTTAAGAAGTCAAACCTTATCATACATCAGAAGATTCACACGGGGGAGAAACGCTATGA
GTGCAGTGAATGTGGAAAATCCTTTATCCAGAACTCACAGCTCATCATACACATGAGAACTCAT
ACAGGAGAGAAACCCTATGAATGTACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTA
GATTACACTTGCGAATCCACACAGGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCCTT
TAGCAGGAAGTCCCGACTCAGTGTCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACTCC
AGCCAGGTCTTACTGTGGAAAACTCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGACA
GTATTGAGGGAACATGGGAATTCATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAAAA
TAGGATCCCATGAGAACATTATACTGGAAGTTACATGTGATACCCAGCTAAAGAATACATATCA
GAATATATCCAGTTGTAAATAGCCATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTGAA
TGAATTGAGTATTCTAGACAGCAGCATAAGAAATATACAAACAGTATCCTATGAATTTAGTGGT
TTTATGTGGATATGCCACAAAACACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGCAT
AATCACTGGGAATTTGAAATTCTTGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCATAC
TAAACATCACATGTGTTTTTCAGTATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGTAA
CATTTAAAGTAGCATGGAACCTACGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTATG
AACATTGTTCTTGAGCTGCCTCTTAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGG
TTTGCTGAAGATTTTCTAGAAGCACTATTTACACAAATATGCAAATGTGAAATAACCGATCTAT
AACGTGAAGGAGGCAGACATGAGCTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCCGT
GTAAAGACAATATCCCCATTCGTCATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATGCA
TGTCTGTTACCAAAATATTGTGTAACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTC
CCTTAATATTTCATGAATTGTCTAGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTTAC
ATTTCAGAGACTTTAGAGGAAAAATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTAAA
TTTTTCACGTGCATAACCCCCTTTAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAGGC
ATTTCTACTTCCTTGAGTTTTGCTGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTTAT
AAGTTATTACTTTTCCTTTACATGTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTC
CAGATATTAACAAGAATTGTTGTGTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAATTC
TTAAGTTCAGCCTTTCCCTATCAATCACAAATCATGTATTGGAAATTATAAATGGCAACCAAAA
ACTGGCTTTTAAAAAATATTTTTGGATATCATTGATGTGCTGTCACACTATATATTGAGTGACT
TTCTGAACAAATTTATCCAGAACATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTAC
TTACTCACAAAGGAGGGGAAAACGTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAACAG
CCTCCTTGGACAACATTGTGAGTCTGTTTTAACATTAATATACTCTTACAACCTAGGAATCTCC
TGGGAATCTATCCCTAAGGAATAAAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTATA
TTGTATTTTTTGGTAAGGACCAAAAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGATG
AATAAATTGTGGTAAAAACATACCATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGAAC
AAACTCCAAACTTCTCTAGGTCAAATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGT
GTGTAGCAGTTTTTATAAAATAAAGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

XM_024450168 ⟹ XP_024305936

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI

Sequence:

show sequence

ACTTTCCTGAGAGTCCCTAAAGCCGCGGCCCCGGAGGCTTGTGGGAAATGTAGTCCCGAACGTG
GATGGTCCACCCCTCCGAGGACCCTGGGAACGGCCCGCGCCCCTGTTTCTGCGCATGTGCAGTG
CTGCGAGCGCGCCGGTGGCCGCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCG
TCTCCGCGCGTCTTCGCCGCCCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCT
GCGCCCCTCCAGGTACGAGAGGGGCTTCCAGTTCTGCCTTCATAGTTCTCTGCCTTTGCCCAAA
ACTGCAGAAAATGAACAAATCCCAGGGATCAGTTTCATTCACGGATGTGACTGTGGACTTTACC
CAGGAGGAATGGGAACAACTGGACCCCTCTCAGAGGATCCTATACATGGATGTGATGCTGGAGA
ATTATAGCAACTTACTTTCAGTGGGTAAGGACGGTTTTCAGAAGTGTGGAAGGCTGATGACCAG
ATGGAGAGAGACCACAGAAACCCAGACGAGCAGGCGAGGCAATTTTTAATTCTTAAGAACCAAA
CCCCAATTGAGGAAAGAGGCGATCTCTTTGGAAAAGCACTTAATCTGAACACAGACTTTGTTTC
TTTAAGACAAGTACCTTATAAATATGACTTATATGAAAAAACTTTGAAATATAATTCAGACTTG
CTTAATAGTAATAGAAGCTATGCAGGAAAGCAGACTGATGAGTGTAATGAATTTGGAAAAGCAC
TTCTCTACCTGAAGCAAGAGAAAACCCACAGTGGAGTAGAATATTCTGAATACAATAAAAGTGG
AAAAGCCCTCAGCCATAAAGCAGCCATTTTTAAACATCAGAAAATAAAAAACTTGGTTCAACCT
TTCATTTGTACTTACTGTGACAAGGCTTTCTCCTTTAAGTCACTCCTCATTAGTCATAAGAGAA
TACATACTGGAGAAAAGCCATATGAATGCAATGTATGTAAGAAAACCTTCTCCCATAAGGCCAA
CCTCATCAAACATCAGAGAATTCACACTGGGGAGAAACCTTTCGAGTGTCCGGAATGTGGAAAA
GCTTTCACCCACCAGTCAAACCTCATTGTACACCAGAGAGCACATATGGAGAAGAAGCCCTATG
AGTGCAGTGAATGTGGAAAGACATTTGCCCAAAAGTTTGAACTCACCACACACCAGAGAATTCA
TACAGGAGAGCGACCCTATGAGTGTAACGAATGTGCAAAAACCTTCTTTAAGAAGTCAAACCTT
ATCATACATCAGAAGATTCACACGGGGGAGAAACGCTATGAGTGCAGTGAATGTGGAAAATCCT
TTATCCAGAACTCACAGCTCATCATACACATGAGAACTCATACAGGAGAGAAACCCTATGAATG
TACTGAGTGCGGCAAAACTTTCAGCCAGAGGTCAACTCTTAGATTACACTTGCGAATCCACACA
GGAGAGAAACCATATGAGTGTTCCGAATGTGGGAAGGCCTTTAGCAGGAAGTCCCGACTCAGTG
TCCATCAGAGAGTTCACATCGGGGAGAAACCCTGAAACTCCAGCCAGGTCTTACTGTGGAAAAC
TCCTGCCAGAACTCTTCAAGCGGGTGAAAAACCTCATGACAGTATTGAGGGAACATGGGAATTC
ATACTGAGATGCAATCTCTCAACTCAAAAATGTATTAAAAATAGGATCCCATGAGAACATTATA
CTGGAAGTTACATGTGATACCCAGCTAAAGAATACATATCAGAATATATCCAGTTGTAAATAGC
CATACCCAGTTGTACTACAATGAGCTTTTTAAAATCTTGAATGAATTGAGTATTCTAGACAGCA
GCATAAGAAATATACAAACAGTATCCTATGAATTTAGTGGTTTTATGTGGATATGCCACAAAAC
ACAAGTGGTATGCTTTAGATCTGCACATGTGAATTTAGCATAATCACTGGGAATTTGAAATTCT
TGTCCTCTGTGATAATTAGGACATAACAAGATTTTCCATACTAAACATCACATGTGTTTTTCAG
TATCTCTGCAATCCAGTATGCATTCCAAATGAAATGTGTAACATTTAAAGTAGCATGGAACCTA
CGTCTTTCCCTACTGCTTGCTGGCATATATCAGTTGGTATGAACATTGTTCTTGAGCTGCCTCT
TAGGAAACAGAAGACAGTGTTGAAGTTTTCCCTGCTTCTGGTTTGCTGAAGATTTTCTAGAAGC
ACTATTTACACAAATATGCAAATGTGAAATAACCGATCTATAACGTGAAGGAGGCAGACATGAG
CTGTACTACTCAGTATGCACCACAGAATAAGAGTTTGCCGTGTAAAGACAATATCCCCATTCGT
CATGCTCTTATTTTCCCGTGGGATATTTGCATACAAATGCATGTCTGTTACCAAAATATTGTGT
AACACAGACAGAAACCACCTGTTTTTGTCTTTCCTTGTTTCCCTTAATATTTCATGAATTGTCT
AGCAAAAATGGTAGGATGCTTCTGTAGTTCACAAATGTTACATTTCAGAGACTTTAGAGGAAAA
ATTATTTTAAATAACTGTCAACTGTTTCATTGCTTTTTAAATTTTTCACGTGCATAACCCCCTT
TAGAAGTAAATTTTTACACTATTTTGTTGTTTAAAGGAGGCATTTCTACTTCCTTGAGTTTTGC
TGTTGCCAACCTAAAACATTTCCCTTTGGAACATGAGTTATAAGTTATTACTTTTCCTTTACAT
GTTTACACTTTTATAAAAATCAGATTTTTCAGTGGTCTCTCCAGATATTAACAAGAATTGTTGT
GTAACTCAAAGATTTGCTTTTATAGACTTGATTTCAAATTCTTAAGTTCAGCCTTTCCCTATCA
ATCACAAATCATGTATTGGAAATTATAAATGGCAACCAAAAACTGGCTTTTAAAAAATATTTTT
GGATATCATTGATGTGCTGTCACACTATATATTGAGTGACTTTCTGAACAAATTTATCCAGAAC
ATCCATAGCCCAATAAGCTTTTGTCTAAGTTGTCATCTTACTTACTCACAAAGGAGGGGAAAAC
GTTATTTTCATAGCTGCTTTTAGAAATGTAAATTGTAACAGCCTCCTTGGACAACATTGTGAGT
CTGTTTTAACATTAATATACTCTTACAACCTAGGAATCTCCTGGGAATCTATCCCTAAGGAATA
AAAAGCGCCAGCACTTAAGATTATATGTTTACTAATGTATATTGTATTTTTTGGTAAGGACCAA
AAAAACAAACAAAAAAAAGACCATCAGTAAGGGAATGGATGAATAAATTGTGGTAAAAACATAC
CATGGCTGAATGGTATTTCCTTGAAAAGAATGTGTGGGAACAAACTCCAAACTTCTCTAGGTCA
AATGAGGAAAGCAAGAGGGGAGAGAGAGAGTGTATGTGTGTGTGTAGCAGTTTTTATAAAATAA
AGATAAACCCTTATA

hide sequence

RefSeq Acc Id:

XM_047433668 ⟹ XP_047289624

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,172,234 (+)	NCBI

RefSeq Acc Id:

XM_047433669 ⟹ XP_047289625

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,149,051 - 75,172,234 (+)	NCBI

RefSeq Acc Id:

XM_047433670 ⟹ XP_047289626

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,159,153 - 75,172,234 (+)	NCBI

RefSeq Acc Id:

XM_054379708 ⟹ XP_054235683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	81,165,700 - 81,218,965 (+)	NCBI

RefSeq Acc Id:

XM_054379709 ⟹ XP_054235684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	81,195,776 - 81,218,965 (+)	NCBI

RefSeq Acc Id:

XM_054379710 ⟹ XP_054235685

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

RefSeq Acc Id:

XM_054379711 ⟹ XP_054235686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	81,195,249 - 81,218,965 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001305398	(Get FASTA)	NCBI Sequence Viewer
	NP_001305400	(Get FASTA)	NCBI Sequence Viewer
	NP_001305401	(Get FASTA)	NCBI Sequence Viewer
	NP_001305402	(Get FASTA)	NCBI Sequence Viewer
	NP_001305403	(Get FASTA)	NCBI Sequence Viewer
	NP_001305404	(Get FASTA)	NCBI Sequence Viewer
	NP_001305405	(Get FASTA)	NCBI Sequence Viewer
	NP_710155	(Get FASTA)	NCBI Sequence Viewer
	XP_011521223	(Get FASTA)	NCBI Sequence Viewer
	XP_024305936	(Get FASTA)	NCBI Sequence Viewer
	XP_047289624	(Get FASTA)	NCBI Sequence Viewer
	XP_047289625	(Get FASTA)	NCBI Sequence Viewer
	XP_047289626	(Get FASTA)	NCBI Sequence Viewer
	XP_054235683	(Get FASTA)	NCBI Sequence Viewer
	XP_054235684	(Get FASTA)	NCBI Sequence Viewer
	XP_054235685	(Get FASTA)	NCBI Sequence Viewer
	XP_054235686	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH33774	(Get FASTA)	NCBI Sequence Viewer
	AAH64604	(Get FASTA)	NCBI Sequence Viewer
	AAI13864	(Get FASTA)	NCBI Sequence Viewer
	AAI14472	(Get FASTA)	NCBI Sequence Viewer
	AAI27185	(Get FASTA)	NCBI Sequence Viewer
	BAC04417	(Get FASTA)	NCBI Sequence Viewer
	BAF84061	(Get FASTA)	NCBI Sequence Viewer
	BAG59181	(Get FASTA)	NCBI Sequence Viewer
	EAW95662	(Get FASTA)	NCBI Sequence Viewer
	EAW95663	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000333192
	ENSP00000333192.4
	ENSP00000377080
	ENSP00000377080.2
	ENSP00000454286.1
	ENSP00000455627
	ENSP00000455627.1
	ENSP00000457044
	ENSP00000457044.1
	ENSP00000457941
	ENSP00000457941.1
GenBank Protein	Q6P2D0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_710155 ⟸ NM_153688
- Peptide Label:	isoform 1
- UniProtKB:	Q8N188 (UniProtKB/Swiss-Prot), B4DKG9 (UniProtKB/Swiss-Prot), A8K5Q7 (UniProtKB/Swiss-Prot), Q8N9F9 (UniProtKB/Swiss-Prot), Q6P2D0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNKSQGSVSFTDVTVDFTQEEWEQLDPSQRILYMDVMLENYSNLLSVEVWKADDQMERDHRNPD EQARQFLILKNQTPIEERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDLLNSNRSYAG KQTDECNEFGKALLYLKQEKTHSGVEYSEYNKSGKALSHKAAIFKHQKIKNLVQPFICTYCDKA FSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPFECPECGKAFTHQSNLI VHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNLIIHQKIHTG EKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHTGEKPYECSE CGKAFSRKSRLSVHQRVHIGEKP hide sequence

RefSeq Acc Id:

XP_011521223 ⟸ XM_011522921

- Peptide Label:

isoform X2

- Sequence:

show sequence

MHCYGAFKMWLSSAFIVLCLCPKLQKMNKSQGSVSFTDVTVDFTQEEWEQLDPSQRILYMDVML
ENYSNLLSVEVWKADDQMERDHRNPDEQARQFLILKNQTPIEERGDLFGKALNLNTDFVSLRQV
PYKYDLYEKTLKYNSDLLNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNKSGKALS
HKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKH
QRIHTGEKPFECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGER
PYECNECAKTFFKKSNLIIHQKIHTGEKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECG
KTFSQRSTLRLHLRIHTGEKPYECSECGKAFSRKSRLSVHQRVHIGEKP

hide sequence

RefSeq Acc Id:	NP_001305398 ⟸ NM_001318469
- Peptide Label:	isoform 1
- UniProtKB:	Q8N188 (UniProtKB/Swiss-Prot), B4DKG9 (UniProtKB/Swiss-Prot), A8K5Q7 (UniProtKB/Swiss-Prot), Q8N9F9 (UniProtKB/Swiss-Prot), Q6P2D0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNKSQGSVSFTDVTVDFTQEEWEQLDPSQRILYMDVMLENYSNLLSVEVWKADDQMERDHRNPD EQARQFLILKNQTPIEERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDLLNSNRSYAG KQTDECNEFGKALLYLKQEKTHSGVEYSEYNKSGKALSHKAAIFKHQKIKNLVQPFICTYCDKA FSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPFECPECGKAFTHQSNLI VHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNLIIHQKIHTG EKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHTGEKPYECSE CGKAFSRKSRLSVHQRVHIGEKP hide sequence

RefSeq Acc Id:	NP_001305402 ⟸ NM_001318473
- Peptide Label:	isoform 3
- UniProtKB:	Q6P2D0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MERDHRNPDEQARQFLILKNQTPIEERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDL LNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNKSGKALSHKAAIFKHQKIKNLVQP FICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPFECPECGK AFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNL IIHQKIHTGEKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHT GEKPYECSECGKAFSRKSRLSVHQRVHIGEKP hide sequence

RefSeq Acc Id:	NP_001305400 ⟸ NM_001318471
- Peptide Label:	isoform 2
- UniProtKB:	J3KNQ1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDVMLENYSNLLSVEVWKADDQMERDHRNPDEQARQFLILKNQTPIEERGDLFGKALNLNTDFV SLRQVPYKYDLYEKTLKYNSDLLNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNKS GKALSHKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKA NLIKHQRIHTGEKPFECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRI HTGERPYECNECAKTFFKKSNLIIHQKIHTGEKRYECSECGKSFIQNSQLIIHMRTHTGEKPYE CTECGKTFSQRSTLRLHLRIHTGEKPYECSECGKAFSRKSRLSVHQRVHIGEKP hide sequence

RefSeq Acc Id:	NP_001305405 ⟸ NM_001318476
- Peptide Label:	isoform 4
- UniProtKB:	H3BV40 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNKSQGSVSFTDVTVDFTQEEWEQLDPSQRILYMDVMLENYSNLLSVGKDGFQKCGRLMTRWRE TTETQTSRRGNF hide sequence

RefSeq Acc Id:	NP_001305403 ⟸ NM_001318474
- Peptide Label:	isoform 3
- UniProtKB:	Q6P2D0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MERDHRNPDEQARQFLILKNQTPIEERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDL LNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNKSGKALSHKAAIFKHQKIKNLVQP FICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPFECPECGK AFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNL IIHQKIHTGEKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHT GEKPYECSECGKAFSRKSRLSVHQRVHIGEKP hide sequence

RefSeq Acc Id:	NP_001305401 ⟸ NM_001318472
- Peptide Label:	isoform 2
- UniProtKB:	J3KNQ1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDVMLENYSNLLSVEVWKADDQMERDHRNPDEQARQFLILKNQTPIEERGDLFGKALNLNTDFV SLRQVPYKYDLYEKTLKYNSDLLNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNKS GKALSHKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKA NLIKHQRIHTGEKPFECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRI HTGERPYECNECAKTFFKKSNLIIHQKIHTGEKRYECSECGKSFIQNSQLIIHMRTHTGEKPYE CTECGKTFSQRSTLRLHLRIHTGEKPYECSECGKAFSRKSRLSVHQRVHIGEKP hide sequence

RefSeq Acc Id:	NP_001305404 ⟸ NM_001318475
- Peptide Label:	isoform 4
- UniProtKB:	H3BV40 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNKSQGSVSFTDVTVDFTQEEWEQLDPSQRILYMDVMLENYSNLLSVGKDGFQKCGRLMTRWRE TTETQTSRRGNF hide sequence

RefSeq Acc Id:	XP_024305936 ⟸ XM_024450168
- Peptide Label:	isoform X4
- UniProtKB:	H3BV40 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNKSQGSVSFTDVTVDFTQEEWEQLDPSQRILYMDVMLENYSNLLSVGKDGFQKCGRLMTRWRE TTETQTSRRGNF hide sequence

RefSeq Acc Id:

ENSP00000457941 ⟸ ENST00000464850

RefSeq Acc Id:

ENSP00000333192 ⟸ ENST00000332307

RefSeq Acc Id:

ENSP00000457044 ⟸ ENST00000570010

RefSeq Acc Id:

ENSP00000377080 ⟸ ENST00000393430

RefSeq Acc Id:

ENSP00000455627 ⟸ ENST00000567481

RefSeq Acc Id:

ENSP00000454286 ⟸ ENST00000568079

RefSeq Acc Id:	XP_047289624 ⟸ XM_047433668
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047289625 ⟸ XM_047433669
- Peptide Label:	isoform X3
- UniProtKB:	Q8N188 (UniProtKB/Swiss-Prot), Q6P2D0 (UniProtKB/Swiss-Prot), B4DKG9 (UniProtKB/Swiss-Prot), A8K5Q7 (UniProtKB/Swiss-Prot), Q8N9F9 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047289626 ⟸ XM_047433670
- Peptide Label:	isoform X3
- UniProtKB:	J3KNQ1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054235683 ⟸ XM_054379708
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054235685 ⟸ XM_054379710
- Peptide Label:	isoform X3
- UniProtKB:	Q8N188 (UniProtKB/Swiss-Prot), Q6P2D0 (UniProtKB/Swiss-Prot), B4DKG9 (UniProtKB/Swiss-Prot), A8K5Q7 (UniProtKB/Swiss-Prot), Q8N9F9 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054235686 ⟸ XM_054379711
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054235684 ⟸ XM_054379709
- Peptide Label:	isoform X3
- UniProtKB:	Q8N188 (UniProtKB/Swiss-Prot), Q6P2D0 (UniProtKB/Swiss-Prot), B4DKG9 (UniProtKB/Swiss-Prot), A8K5Q7 (UniProtKB/Swiss-Prot), Q8N9F9 (UniProtKB/Swiss-Prot)

Protein Domains

C2H2-type KRAB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6P2D0-F1-model_v2	AlphaFold	Q6P2D0	1-407	view protein structure

Promoters

RGD ID:

6793622

Promoter ID:

HG_KWN:24262

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_153688, UC002FDP.1, UC002FDQ.1, UC010CGS.1, UC010CGT.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	73,739,866 - 73,740,366 (+)	MPROMDB

RGD ID:

7232843

Promoter ID:

EPDNEW_H22167

Type:

initiation region

Name:

ZFP1_2

Description:

ZFP1 zinc finger protein

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22168

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,119,411 - 75,119,471	EPDNEW

RGD ID:

7232847

Promoter ID:

EPDNEW_H22168

Type:

initiation region

Name:

ZFP1_1

Description:

ZFP1 zinc finger protein

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22167

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,148,524 - 75,148,584	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23328	AgrOrtholog
COSMIC	ZFP1	COSMIC
Ensembl Genes	ENSG00000184517	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000332307	ENTREZGENE
	ENST00000332307.4	UniProtKB/TrEMBL
	ENST00000393430	ENTREZGENE
	ENST00000393430.6	UniProtKB/Swiss-Prot
	ENST00000464850	ENTREZGENE
	ENST00000464850.5	UniProtKB/TrEMBL
	ENST00000567481	ENTREZGENE
	ENST00000567481.1	UniProtKB/TrEMBL
	ENST00000568079.5	UniProtKB/TrEMBL
	ENST00000570010	ENTREZGENE
	ENST00000570010.6	UniProtKB/Swiss-Prot
Gene3D-CATH	6.10.140.140	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Classic Zinc Finger	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000184517	GTEx
HGNC ID	HGNC:23328	ENTREZGENE
Human Proteome Map	ZFP1	Human Proteome Map
InterPro	KRAB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KRAB_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_type	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:162239	UniProtKB/Swiss-Prot
NCBI Gene	162239	ENTREZGENE
OMIM	617230	OMIM
PANTHER	GASTRULA ZINC FINGER PROTEIN XLCGF49.1-LIKE-RELATED	UniProtKB/TrEMBL
	KRAB DOMAIN C2H2 ZINC FINGER	UniProtKB/TrEMBL
	TRANSCRIPTIONAL REPRESSOR PROTEIN YY	UniProtKB/TrEMBL
	ZINC FINGER AND SCAN DOMAIN-CONTAINING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC FINGER PROTEIN 715	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC FINGER PROTEIN 939	UniProtKB/TrEMBL
Pfam	KRAB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-H2C2_2	UniProtKB/TrEMBL
PharmGKB	PA134882678	PharmGKB
PROSITE	KRAB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	KRAB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZnF_C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF109640	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF57667	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K5Q7	ENTREZGENE
	B4DKG9	ENTREZGENE
	H3BM94_HUMAN	UniProtKB/TrEMBL
	H3BV40	ENTREZGENE, UniProtKB/TrEMBL
	J3KNQ1	ENTREZGENE, UniProtKB/TrEMBL
	Q29RW8_HUMAN	UniProtKB/TrEMBL
	Q6P2D0	ENTREZGENE
	Q8N188	ENTREZGENE
	Q8N9F9	ENTREZGENE
	ZFP1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K5Q7	UniProtKB/Swiss-Prot
	B4DKG9	UniProtKB/Swiss-Prot
	Q8N188	UniProtKB/Swiss-Prot
	Q8N9F9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-12-04	ZFP1	ZFP1 zinc finger protein		zinc finger protein 1 homolog (mouse)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar

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