RNF220 (ring finger protein 220) - Rat Genome Database

Name: RNF220
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: RNF220 (ring finger protein 220) Homo sapiens

Analyze

Symbol:

RNF220

Name:

ring finger protein 220

RGD ID:

1605659

HGNC Page

HGNC:25552

Description:

Enables beta-catenin binding activity. Involved in positive regulation of canonical Wnt signaling pathway. Acts upstream of or within protein monoubiquitination. Located in nuclear lamina. Part of protein-containing complex. Implicated in hypomyelinating leukodystrophy 23.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C1orf164; E3 ubiquitin-protein ligase RNF220; FLJ10597; HLD23; RING-type E3 ubiquitin transferase RNF220; RP4-678E16.1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Rnf220 (ring finger protein 220)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Rnf220 (ring finger protein 220)	HGNC	Ensembl, HomoloGene, NCBI, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Rnf220 (ring finger protein 220)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RNF220 (ring finger protein 220)	NCBI	Ortholog
Canis lupus familiaris (dog):	RNF220 (ring finger protein 220)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rnf220 (ring finger protein 220)	NCBI	Ortholog
Sus scrofa (pig):	RNF220 (ring finger protein 220)	HGNC	NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	RNF220 (ring finger protein 220)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rnf220 (ring finger protein 220)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rnf220 (ring finger protein 220)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rnf220 (ring finger protein 220)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	rnf220b (ring finger protein 220b)	Alliance	DIOPT (Ensembl Compara\|ZFIN)
Danio rerio (zebrafish):	rnf220a (ring finger protein 220a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG4813	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	rnf220.1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	rnf220.1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)

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	1	44,404,783 - 44,651,724 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	44,405,194 - 44,651,723 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	44,870,832 - 45,117,396 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	44,643,547 - 44,889,983 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	43,154,154 - 43,400,285 (+)	NCBI		Celera
Cytogenetic Map	1	p34.1	NCBI
HuRef	1	42,984,500 - 43,231,589 (+)	NCBI		HuRef
CHM1_1	1	44,986,448 - 45,233,292 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	44,276,080 - 44,522,650 (+)	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

Charcot-Marie-Tooth disease dominant intermediate C (IAGP)

developmental and epileptic encephalopathy (IAGP)

early infantile epileptic encephalopathy (IAGP)

hypomyelinating leukodystrophy 23 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

amitrole (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

coumarin (EXP)

dexamethasone (EXP)

disodium selenite (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

enzyme inhibitor (EXP)

ethanol (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

glyphosate (ISO)

indometacin (EXP)

lead(0) (EXP)

maneb (ISO)

methapyrilene (EXP)

methimazole (ISO)

methoxychlor (ISO)

naphthalene (ISO)

paracetamol (ISO)

paraquat (ISO)

pirinixic acid (ISO)

selenium atom (EXP)

sodium arsenite (EXP)

sulindac (ISO)

temozolomide (EXP)

thioacetamide (ISO)

triptonide (ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

dorsal/ventral neural tube patterning (IEA,ISO)

noradrenergic neuron development (IEA,ISO)

positive regulation of canonical Wnt signaling pathway (IMP)

protein autoubiquitination (IEA,ISS)

protein monoubiquitination (IEA,IGI)

protein ubiquitination (IBA,IEA,ISS)

regulation of postsynaptic neurotransmitter receptor internalization (ISO)

Cellular Component

cytoplasm (IEA,ISS)

glutamatergic synapse (ISO)

nuclear lamina (IMP)

nucleus (IEA,IMP)

postsynapse (ISO)

protein-containing complex (IDA)

Molecular Function

beta-catenin binding (IMP)

metal ion binding (IEA)

protein binding (IPI)

transferase activity (IEA)

ubiquitin protein ligase activity (IBA,IEA)

ubiquitin-protein transferase activity (IEA,ISS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Childhood onset (IAGP)

CNS hypomyelination (IAGP)

Dilated cardiomyopathy (IAGP)

Dysarthria (IAGP)

Elevated circulating hepatic transaminase concentration (IAGP)

Hyperreflexia (IAGP)

Intellectual disability (IAGP)

Motor delay (IAGP)

Peripheral axonal neuropathy (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Spastic paraplegia (IAGP)

Thin corpus callosum (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:8125298	PMID:11042152	PMID:12477932	PMID:14702039	PMID:15146197	PMID:15489334	PMID:16710414	PMID:16713569	PMID:19615732	PMID:19913121	PMID:20170641	PMID:20379614
PMID:20628086	PMID:21873635	PMID:25266658	PMID:25416956	PMID:26186194	PMID:26496610	PMID:26760575	PMID:28298427	PMID:28514442	PMID:28986522	PMID:29117863	PMID:29229926
PMID:29643511	PMID:30177510	PMID:30500349	PMID:32094113	PMID:32513696	PMID:32814877	PMID:32896826	PMID:33961781	PMID:33964137	PMID:34674267	PMID:34702297	PMID:34753387
PMID:34795231	PMID:35040952	PMID:35563538	PMID:35701899	PMID:35914814	PMID:35944360	PMID:36089195	PMID:36179027	PMID:37537194	PMID:37689310

Genomics

Comparative Map Data

RNF220
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	44,404,783 - 44,651,724 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	44,405,194 - 44,651,723 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	44,870,832 - 45,117,396 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	44,643,547 - 44,889,983 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	43,154,154 - 43,400,285 (+)	NCBI		Celera
Cytogenetic Map	1	p34.1	NCBI
HuRef	1	42,984,500 - 43,231,589 (+)	NCBI		HuRef
CHM1_1	1	44,986,448 - 45,233,292 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	44,276,080 - 44,522,650 (+)	NCBI		T2T-CHM13v2.0

Rnf220
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	117,128,660 - 117,354,249 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	117,128,660 - 117,354,249 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	117,271,463 - 117,497,052 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	117,271,463 - 117,497,052 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	116,944,069 - 117,169,520 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	116,769,396 - 116,994,847 (-)	NCBI		MGSCv36	mm8
Celera	4	116,001,586 - 116,228,429 (-)	NCBI		Celera
Cytogenetic Map	4	D1	NCBI
cM Map	4	53.44	NCBI

Rnf220
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	135,975,739 - 136,198,017 (-)	NCBI		GRCr8
mRatBN7.2	5	130,739,173 - 130,961,386 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	130,739,183 - 130,961,418 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	5	136,129,457 - 136,351,752 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	136,129,425 - 136,166,786 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	139,922,945 - 140,141,394 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	137,577,219 - 137,779,245 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	5	129,260,095 - 129,480,329 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Rnf220
(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_004955464	13,580,742 - 13,801,837 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955464	13,579,828 - 13,795,266 (-)	NCBI	ChiLan1.0	ChiLan1.0

RNF220
(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	1	182,157,293 - 182,403,726 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	181,298,690 - 181,545,079 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	43,707,764 - 43,954,197 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	45,076,804 - 45,320,671 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	45,083,499 - 45,319,721 (+)	Ensembl	panpan1.1		panPan2

RNF220
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	15,664,025 - 15,898,564 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	15,664,876 - 15,891,748 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	15,784,128 - 16,018,778 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	15,815,744 - 15,835,110 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	15	15,616,773 - 15,851,320 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	15,683,868 - 15,918,919 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	15,757,561 - 15,992,375 (-)	NCBI		UU_Cfam_GSD_1.0

Rnf220
(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_024405058	59,847,401 - 60,069,555 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	25,678,667 - 25,897,665 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	25,678,672 - 25,894,337 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RNF220
(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	166,666,138 - 166,910,646 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	166,666,140 - 166,910,728 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	154,217,053 - 154,462,478 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RNF220
(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	20	88,134,359 - 88,387,402 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666033	28,542,690 - 28,789,415 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rnf220
(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_004624906	313,660 - 544,123 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624906	287,817 - 544,123 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RNF220
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	copy number loss	See cases [RCV000050706]	Chr1:40693289..44514104 [GRCh38] Chr1:41158961..44979776 [GRCh37] Chr1:40931548..44752363 [NCBI36] Chr1:1p34.2-34.1	pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|See cases [RCV000051817]	Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33	pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3	copy number gain	See cases [RCV000051803]	Chr1:38222737..45636176 [GRCh38] Chr1:38688409..46101848 [GRCh37] Chr1:38460996..45874435 [NCBI36] Chr1:1p34.3-34.1	pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	copy number loss	See cases [RCV000053837]	Chr1:40462415..44668040 [GRCh38] Chr1:40928087..45133712 [GRCh37] Chr1:40700674..44906299 [NCBI36] Chr1:1p34.2-34.1	pathogenic
GRCh38/hg38 1p34.1(chr1:44514045-44535607)x1	copy number loss	See cases [RCV000140049]	Chr1:44514045..44535607 [GRCh38] Chr1:44979717..45001279 [GRCh37] Chr1:44752304..44773866 [NCBI36] Chr1:1p34.1	benign
GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	copy number gain	See cases [RCV000142581]	Chr1:43896056..44867736 [GRCh38] Chr1:44361728..45333408 [GRCh37] Chr1:44134315..45105995 [NCBI36] Chr1:1p34.1	uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	copy number loss	See cases [RCV000446029]	Chr1:42914303..45001279 [GRCh37] Chr1:1p34.2-34.1	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_018150.4(RNF220):c.298G>T (p.Ala100Ser)	single nucleotide variant	not specified [RCV004329971]	Chr1:44412395 [GRCh38] Chr1:44878067 [GRCh37] Chr1:1p34.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p34.1(chr1:44832896-44929865)x3	copy number gain	not provided [RCV000748969]	Chr1:44832896..44929865 [GRCh37] Chr1:1p34.1	benign
GRCh37/hg19 1p34.1(chr1:45021443-45022106)x0	copy number loss	not provided [RCV000748970]	Chr1:45021443..45022106 [GRCh37] Chr1:1p34.1	benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	copy number loss	not provided [RCV001005080]	Chr1:44424878..45207102 [GRCh37] Chr1:1p34.1	uncertain significance
GRCh37/hg19 1p34.1(chr1:44810778-45216633)x3	copy number gain	not provided [RCV001005081]	Chr1:44810778..45216633 [GRCh37] Chr1:1p34.1	uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
NM_018150.4(RNF220):c.1088G>A (p.Arg363Gln)	single nucleotide variant	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy [RCV001807781]	Chr1:44636124 [GRCh38] Chr1:45101796 [GRCh37] Chr1:1p34.1	pathogenic
NM_018150.4(RNF220):c.1094G>A (p.Arg365Gln)	single nucleotide variant	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy [RCV001810395]	Chr1:44636130 [GRCh38] Chr1:45101802 [GRCh37] Chr1:1p34.1	pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic
NC_000001.10:g.(?_44257753)_(46663493_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV003109481]	Chr1:44257753..46663493 [GRCh37] Chr1:1p34.1	uncertain significance
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	copy number gain	See cases [RCV002246181]	Chr1:44346001..46332161 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1328C>T (p.Thr443Met)	single nucleotide variant	not specified [RCV004226630]	Chr1:44645238 [GRCh38] Chr1:45110910 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.94G>A (p.Ala32Thr)	single nucleotide variant	not specified [RCV004137849]	Chr1:44412191 [GRCh38] Chr1:44877863 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.820G>A (p.Ala274Thr)	single nucleotide variant	not specified [RCV004122112]	Chr1:44626312 [GRCh38] Chr1:45091984 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.214A>G (p.Met72Val)	single nucleotide variant	not specified [RCV004242845]	Chr1:44412311 [GRCh38] Chr1:44877983 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1469C>A (p.Thr490Asn)	single nucleotide variant	not specified [RCV004214443]	Chr1:44649684 [GRCh38] Chr1:45115356 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.325A>G (p.Ile109Val)	single nucleotide variant	not specified [RCV004229448]	Chr1:44412422 [GRCh38] Chr1:44878094 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.118A>G (p.Ile40Val)	single nucleotide variant	not specified [RCV004220421]	Chr1:44412215 [GRCh38] Chr1:44877887 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1033A>G (p.Ile345Val)	single nucleotide variant	not specified [RCV004176061]	Chr1:44636069 [GRCh38] Chr1:45101741 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1124G>A (p.Arg375Gln)	single nucleotide variant	not specified [RCV004091824]	Chr1:44636160 [GRCh38] Chr1:45101832 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1055G>A (p.Arg352His)	single nucleotide variant	not specified [RCV004273005]	Chr1:44636091 [GRCh38] Chr1:45101763 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.299C>T (p.Ala100Val)	single nucleotide variant	not specified [RCV004274435]	Chr1:44412396 [GRCh38] Chr1:44878068 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1011G>A (p.Met337Ile)	single nucleotide variant	not specified [RCV004353881]	Chr1:44636047 [GRCh38] Chr1:45101719 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.737A>G (p.Gln246Arg)	single nucleotide variant	not specified [RCV004353006]	Chr1:44614276 [GRCh38] Chr1:45079948 [GRCh37] Chr1:1p34.1	uncertain significance
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
NM_018150.4(RNF220):c.1251C>T (p.Cys417=)	single nucleotide variant	not provided [RCV003406448]	Chr1:44645022 [GRCh38] Chr1:45110694 [GRCh37] Chr1:1p34.1	likely benign
NM_018150.4(RNF220):c.1473G>A (p.Thr491=)	single nucleotide variant	not provided [RCV003406450]	Chr1:44649688 [GRCh38] Chr1:45115360 [GRCh37] Chr1:1p34.1	likely benign
NM_018150.4(RNF220):c.1299C>T (p.Gly433=)	single nucleotide variant	not provided [RCV003406449]	Chr1:44645070 [GRCh38] Chr1:45110742 [GRCh37] Chr1:1p34.1	likely benign
GRCh37/hg19 1p34.1(chr1:44810778-45212378)x3	copy number gain	not specified [RCV003986806]	Chr1:44810778..45212378 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.106C>T (p.Arg36Cys)	single nucleotide variant	not specified [RCV004446660]	Chr1:44412203 [GRCh38] Chr1:44877875 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1139T>C (p.Ile380Thr)	single nucleotide variant	not specified [RCV004446661]	Chr1:44644710 [GRCh38] Chr1:45110382 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1157A>G (p.Glu386Gly)	single nucleotide variant	not specified [RCV004446662]	Chr1:44644728 [GRCh38] Chr1:45110400 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1559C>T (p.Ser520Leu)	single nucleotide variant	not specified [RCV004446664]	Chr1:44649887 [GRCh38] Chr1:45115559 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.216G>A (p.Met72Ile)	single nucleotide variant	not specified [RCV004446665]	Chr1:44412313 [GRCh38] Chr1:44877985 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.527C>T (p.Ser176Leu)	single nucleotide variant	not specified [RCV004446668]	Chr1:44412624 [GRCh38] Chr1:44878296 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1069G>A (p.Glu357Lys)	single nucleotide variant	not specified [RCV004446659]	Chr1:44636105 [GRCh38] Chr1:45101777 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.1456G>T (p.Asp486Tyr)	single nucleotide variant	not specified [RCV004446663]	Chr1:44649671 [GRCh38] Chr1:45115343 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.479G>A (p.Gly160Asp)	single nucleotide variant	not specified [RCV004446666]	Chr1:44412576 [GRCh38] Chr1:44878248 [GRCh37] Chr1:1p34.1	uncertain significance
NM_018150.4(RNF220):c.613C>T (p.Arg205Trp)	single nucleotide variant	not specified [RCV004446669]	Chr1:44412710 [GRCh38] Chr1:44878382 [GRCh37] Chr1:1p34.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	6334
Count of miRNA genes:	1086
Interacting mature miRNAs:	1391
Transcripts:	ENST00000335497, ENST00000355387, ENST00000361799, ENST00000372247, ENST00000440132, ENST00000443020, ENST00000453863, ENST00000470498, ENST00000471494, ENST00000474064, ENST00000474394, ENST00000474956, ENST00000475378, ENST00000480686, ENST00000484745, ENST00000487332, ENST00000488865, ENST00000496262, ENST00000497469
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

D1S2881

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	114,715,330 - 114,715,542	UniSTS	GRCh37
Build 36	1	114,516,853 - 114,517,065	RGD	NCBI36
Celera	1	112,944,576 - 112,944,786	RGD
HuRef	1	112,573,422 - 112,573,634	UniSTS
HuRef	1	43,011,771 - 43,011,989	UniSTS
Marshfield Genetic Map	1	148.67	RGD
Marshfield Genetic Map	1	148.67	UniSTS
Genethon Genetic Map	1	153.3	UniSTS
deCODE Assembly Map	1	135.38	UniSTS
GeneMap99-GB4 RH Map	1	371.93	UniSTS
GeneMap99-G3 RH Map	1	5347.0	UniSTS

RH41792

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,117,152 - 45,117,361	UniSTS	GRCh37
Build 36	1	44,889,739 - 44,889,948	RGD	NCBI36
Celera	1	43,400,041 - 43,400,250	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,231,345 - 43,231,554	UniSTS
GeneMap99-GB4 RH Map	1	133.01	UniSTS
NCBI RH Map	1	294.0	UniSTS

G60250

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,117,256 - 45,117,359	UniSTS	GRCh37
Build 36	1	44,889,843 - 44,889,946	RGD	NCBI36
Celera	1	43,400,145 - 43,400,248	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,231,449 - 43,231,552	UniSTS
TNG Radiation Hybrid Map	1	24494.0	UniSTS

SHGC-107598

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	44,897,243 - 44,897,587	UniSTS	GRCh37
Build 36	1	44,669,830 - 44,670,174	RGD	NCBI36
Celera	1	43,180,440 - 43,180,784	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,010,782 - 43,011,126	UniSTS
TNG Radiation Hybrid Map	1	24381.0	UniSTS

D1S2562

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	44,986,294 - 44,986,536	UniSTS	GRCh37
Build 36	1	44,758,881 - 44,759,123	RGD	NCBI36
Celera	1	43,269,501 - 43,269,743	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,100,573 - 43,100,815	UniSTS
Stanford-G3 RH Map	1	2257.0	UniSTS

SHGC-74691

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,116,850 - 45,116,991	UniSTS	GRCh37
Build 36	1	44,889,437 - 44,889,578	RGD	NCBI36
Celera	1	43,399,739 - 43,399,880	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,231,043 - 43,231,184	UniSTS
TNG Radiation Hybrid Map	1	24499.0	UniSTS
GeneMap99-GB4 RH Map	1	130.08	UniSTS
NCBI RH Map	1	294.0	UniSTS

SHGC-112020

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	44,981,971 - 44,982,246	UniSTS	GRCh37
Build 36	1	44,754,558 - 44,754,833	RGD	NCBI36
Celera	1	43,265,178 - 43,265,453	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,096,243 - 43,096,518	UniSTS
TNG Radiation Hybrid Map	1	24341.0	UniSTS

RH64533

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,117,125 - 45,117,251	UniSTS	GRCh37
Build 36	1	44,889,712 - 44,889,838	RGD	NCBI36
Celera	1	43,400,014 - 43,400,140	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,231,318 - 43,231,444	UniSTS
GeneMap99-GB4 RH Map	1	140.86	UniSTS

WI-11305

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,117,252 - 45,117,387	UniSTS	GRCh37
Build 36	1	44,889,839 - 44,889,974	RGD	NCBI36
Celera	1	43,400,141 - 43,400,276	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,231,445 - 43,231,580	UniSTS
GeneMap99-GB4 RH Map	1	130.29	UniSTS
GeneMap99-GB4 RH Map	1	140.76	UniSTS
Whitehead-RH Map	1	152.8	UniSTS
NCBI RH Map	1	294.0	UniSTS

AL009337

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,032,781 - 45,032,970	UniSTS	GRCh37
Build 36	1	44,805,368 - 44,805,557	RGD	NCBI36
Celera	1	43,315,990 - 43,316,179	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,147,064 - 43,147,253	UniSTS

SHGC-74690

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,049,492 - 45,049,783	UniSTS	GRCh37
Build 36	1	44,822,079 - 44,822,370	RGD	NCBI36
Celera	1	43,332,699 - 43,332,990	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,163,774 - 43,164,065	UniSTS
TNG Radiation Hybrid Map	1	24445.0	UniSTS
GeneMap99-GB4 RH Map	1	130.08	UniSTS
Whitehead-RH Map	1	152.3	UniSTS
NCBI RH Map	1	294.0	UniSTS

SHGC-74686

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,100,989 - 45,101,146	UniSTS	GRCh37
Build 36	1	44,873,576 - 44,873,733	RGD	NCBI36
Celera	1	43,383,878 - 43,384,035	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,215,182 - 43,215,339	UniSTS
TNG Radiation Hybrid Map	1	24476.0	UniSTS
GeneMap99-GB4 RH Map	1	129.79	UniSTS
NCBI RH Map	1	294.0	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

2151

1502

1269

237

1320

107

3797

1310

3391

277

1423

1506

143

976

2289

Low

284

1487

456

385

629

357

560

884

339

141

104

228

499

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001319956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001319957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006710735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011541698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011541699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011541700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424281	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001737278	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001737279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001737280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001737281	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007061417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008486089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_946692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF151080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124639	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL122004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL596225	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC073835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC105790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN285725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC340836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF495935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000335497 ⟹ ENSP00000335580

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,631,732 - 44,649,769 (+)	Ensembl

RefSeq Acc Id:

ENST00000355387 ⟹ ENSP00000347548

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,405,194 - 44,651,723 (+)	Ensembl

RefSeq Acc Id:

ENST00000361799 ⟹ ENSP00000354872

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,405,255 - 44,651,723 (+)	Ensembl

RefSeq Acc Id:

ENST00000372247 ⟹ ENSP00000361321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,405,288 - 44,651,724 (+)	Ensembl

RefSeq Acc Id:

ENST00000440132 ⟹ ENSP00000388533

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,631,732 - 44,649,957 (+)	Ensembl

RefSeq Acc Id:

ENST00000453863 ⟹ ENSP00000411541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,626,326 - 44,636,152 (+)	Ensembl

RefSeq Acc Id:

ENST00000470498

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,412,698 - 44,419,872 (+)	Ensembl

RefSeq Acc Id:

ENST00000471494

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,631,975 - 44,645,081 (+)	Ensembl

RefSeq Acc Id:

ENST00000474064

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,631,968 - 44,651,723 (+)	Ensembl

RefSeq Acc Id:

ENST00000474394

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,638,296 - 44,650,890 (+)	Ensembl

RefSeq Acc Id:

ENST00000474956

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,648,308 - 44,651,723 (+)	Ensembl

RefSeq Acc Id:

ENST00000475378

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,632,255 - 44,650,808 (+)	Ensembl

RefSeq Acc Id:

ENST00000480686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,643,132 - 44,651,723 (+)	Ensembl

RefSeq Acc Id:

ENST00000484745

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,632,645 - 44,651,723 (+)	Ensembl

RefSeq Acc Id:

ENST00000487332

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,408,702 - 44,412,121 (+)	Ensembl

RefSeq Acc Id:

ENST00000488865 ⟹ ENSP00000475383

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,631,984 - 44,636,495 (+)	Ensembl

RefSeq Acc Id:

ENST00000496262

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,614,265 - 44,627,057 (+)	Ensembl

RefSeq Acc Id:

ENST00000497469

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	44,632,235 - 44,645,081 (+)	Ensembl

RefSeq Acc Id:

NM_001319956 ⟹ NP_001306885

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,160 - 44,651,724 (+)	NCBI
CHM1_1	1	44,986,320 - 45,233,292 (+)	NCBI
T2T-CHM13v2.0	1	44,276,080 - 44,522,650 (+)	NCBI

Sequence:

show sequence

AGTGCCTGTATGTGTGTGAGTGTGAGAGAATGTGTGCGTGCGTGTGTGTGTGCGCGCGTGTGTG
TGTCTCCGAGTCCCTGGGAGAGTGGAGGCTCATTCACTGATTAGATCCAGCGCTGAGAGGCAGC
ACTGCTCCTTCTCTCACGCCAACTGAGTCTCTTGATCTGTACATGCAATCCCAGGCAGCTCGCG
AACACAAACCCGGGGCCAGCCGCCTACTGCTGCTGCTGCTGCTGCCGCTGCCGCCGCCGCCGCC
GCCGCTGCCTCCGCCGGCTCTGCGAACCCGGGACTTTTCATGCACCACACTCTCCGCCTGCTTC
CCTCCGTGTCCTGAAAAGTGCGACCGTTCTCCCAAGGAATTTCCACGGTCTTAGGAGGGAATGA
TTCCCCAGTAATATTCCCTGCCCTGACCCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTG
CTTCTTGCGTAACGCCGGCCACAGAAAGAGACTCCGATGGACTTACACCGGGCAGCCTTCAAGA
TGGAGAACTCATCCTACCTTCCCAACCCTCTGGCATCCCCAGCACTGATGGTCCTGGCATCCAC
GGCTGAGGCCAGCCGTGATGCTTCCATCCCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTC
TCAGTTGACAAGGACGTGCATATTCCTTTCACCAACGGTTCCTATACCTTTGCCTCTATGTACC
ATCGGCAAGGTGGGGTGCCAGGCACTTTTGCCAATCGTGATTTCCCCCCTTCTCTACTACACCT
CCACCCTCAATTTGCTCCCCCAAATCTAGATTGCACCCCAATCAGTATGCTGAATCATAGTGGT
GTGGGGGCTTTCCGGCCCTTTGCCTCCACCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGC
CGGCCAAGCGACTTAAGAACTGCCATGACACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGA
TGGCAAGGAATATGACTTTGGGACACAGCTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGAT
GACACTGGGAAGAAGATTTTTGCTGTCTCTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCC
CAGAGGATCGGAATGACAGATGTAAGAAGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAAT
TTGCCCCATCTGCCAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTG
GAGCAGCTAGCCCAACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCA
CCCCAAAGTCCCTCCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACC
CCACTCATCTGCCACCGATGACCTCCACCATTCAGACAGATACCAGACCTTTCTGCGAGTACGA
GCCAACCGGCAGACCCGACTGAATGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAG
GGCAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAA
CCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGT
GGCTTCCGAGGCTCTGGCTTCATCATGTGCAGCGGCAAAGAGAACCCGGACAGTGATGCTGACT
TGGATGTGGATGGGGATGACACTCTGGAGTATGGGAAGCCACAATACACAGAGGCTGATGTCAT
CCCCTGCACAGGCGAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCCTA
AATGGCGGCCCTCCCAGCACGCGCATCACACCTGAGTTCTCTAAATGGGCCAGTGATGAGATGC
CATCCACCAGCAATGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAAGACCTGCAAGAACAGCGA
CATCGAGAAAATCACCGAAGATTCAGCTGTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCAGA
GAACTTGAACGGCAGCTATCTCGTGGGGACCGTTACAAATGCCTCATCTGCATGGACTCGTACT
CGATGCCCCTAACGTCCATCCAGTGTTGGCACGTGCACTGCGAGGAGTGCTGGCTGCGGACCCT
GGGTGCCAAGAAGCTCTGCCCTCAGTGCAACACGATCACAGCGCCCGGAGACCTGCGGAGGATC
TACTTGTGAGCTATCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCTCT
GTGACAGTGACCGTCTCCCTTTGTACATACTTGCACACAGGTTCCCCATGTACATACATGCACA
TACTCAAACATGCGTACACACACACACATTTACACACGCAGGACTCTGGAGCCAGAGTAGAGGC
TGTGGCCCAGGCACTACCTGCTGGCTCCCACCTATGGTTTGGGGGCCATACCTGTTCCAGCTCT
GTTCCCAGGGTGGGGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATCCA
GCCCCCATACTGACAGACGGACAGACAGACATGCAAACACCAGACTGAAGCACATGTAATATAG
ACCGTGTATGTTTACAATGTTGTGTATAAATGGGACAACTCCTCGCCCTCTACCTGTCCCCTCC
CCCTTTGGTTGTATGATTTTCTTCTTTTTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGGTT
GGCTGGGAGCTCGGCCCATCCACCTCTTGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCCTT
CCCTCTCCCATGTGCTCGGTGTTCAGTGGTGTATATTTCTTCTCCCAGACATGGGGCACACGCC
CCAAGGGACATGATCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGGTA
GAGGCAGGAAATGGGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCTCC
TGGCCACCCAGCCTCTGCTGAGAACCATTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAAGT
GTCGTCTCCCCGACCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGTCTGTATATTCTATACAAA
GGTACTTGTCCTTTCCCTTTGTAAACTACATTTGACATGGATTAAACCAGTATAAACAGTTGAA
AAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001319957 ⟹ NP_001306886

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,424,001 - 44,651,723 (+)	NCBI
CHM1_1	1	45,004,986 - 45,233,292 (+)	NCBI
T2T-CHM13v2.0	1	44,294,926 - 44,522,649 (+)	NCBI

Sequence:

show sequence

CTCTTATCTTCATCATCGCTCTACATCCACGAACATTTCCTGAGCTCCTGTGTGTAGAGCGTTG
TGCTCGGTGCTGTTTGCAAGGGAATCAAAGAAGTAGGAGATGATACTTCCTCTTCTTGACAGCC
TTATGGTTAAGGTAAGAAGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATC
TGCCAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAG
CCCAACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTC
CCTCCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCT
GCCACCGATGACCTCCACCATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGC
AGACCCGACTGAATGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATG
TCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGC
CTTTCTAAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACA
ACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGA
AGGTGGCTTCCGAGGCTCTGGCTTCATCATGTGCAGCGGCAAAGAGAACCCGGACAGTGATGCT
GACTTGGATGTGGATGGGGATGACACTCTGGAGTATGGGAAGCCACAATACACAGAGGCTGATG
TCATCCCCTGCACAGGCGAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGT
CCTAAATGGCGGCCCTCCCAGCACGCGCATCACACCTGAGTTCTCTAAATGGGCCAGTGATGAG
ATGCCATCCACCAGCAATGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAAGACCTGCAAGAACA
GCGACATCGAGAAAATCACCGAAGATTCAGCTGTGACCACGTTTGAGGCTCTGAAGGCTCGGGT
CAGAGAACTTGAACGGCAGCTATCTCGTGGGGACCGTTACAAATGCCTCATCTGCATGGACTCG
TACTCGATGCCCCTAACGTCCATCCAGTGTTGGCACGTGCACTGCGAGGAGTGCTGGCTGCGGA
CCCTGGGTGCCAAGAAGCTCTGCCCTCAGTGCAACACGATCACAGCGCCCGGAGACCTGCGGAG
GATCTACTTGTGAGCTATCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGC
CTCTGTGACAGTGACCGTCTCCCTTTGTACATACTTGCACACAGGTTCCCCATGTACATACATG
CACATACTCAAACATGCGTACACACACACACATTTACACACGCAGGACTCTGGAGCCAGAGTAG
AGGCTGTGGCCCAGGCACTACCTGCTGGCTCCCACCTATGGTTTGGGGGCCATACCTGTTCCAG
CTCTGTTCCCAGGGTGGGGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGA
TCCAGCCCCCATACTGACAGACGGACAGACAGACATGCAAACACCAGACTGAAGCACATGTAAT
ATAGACCGTGTATGTTTACAATGTTGTGTATAAATGGGACAACTCCTCGCCCTCTACCTGTCCC
CTCCCCCTTTGGTTGTATGATTTTCTTCTTTTTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAG
GGTTGGCTGGGAGCTCGGCCCATCCACCTCTTGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTC
CCTTCCCTCTCCCATGTGCTCGGTGTTCAGTGGTGTATATTTCTTCTCCCAGACATGGGGCACA
CGCCCCAAGGGACATGATCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTTATAAGGAGTTGGGG
GGTAGAGGCAGGAAATGGGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTG
CTCCTGGCCACCCAGCCTCTGCTGAGAACCATTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAA
AAGTGTCGTCTCCCCGACCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGTCTGTATATTCTATA
CAAAGGTACTTGTCCTTTCCCTTTGTAAACTACATTTGACATGGATTAAACCAGTATAAACAGT
T

hide sequence

RefSeq Acc Id:

NM_001376486 ⟹ NP_001363415

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,255 - 44,651,723 (+)	NCBI
T2T-CHM13v2.0	1	44,276,175 - 44,522,649 (+)	NCBI

Sequence:

show sequence

ATTCACTGATTAGATCCAGCGCTGAGAGGCAGCACTGCTCCTTCTCTCACGCCAACTGAGTCTC
TTGATCTGTACATGCAATCCCAGGCAGCTCGCGAACACAAACCCGGGGCCAGCCGCCTACTGCT
GCTGCTGCTGCTGCCGCTGCCGCCGCCGCCGCCGCCGCTGCCTCCGCCGGCTCTGCGAACCCGG
GACTTTTCATGCACCACACTCTCCGCCTGCTTCCCTCCGTGTCCTGAAAAGTGCGACCGTTCTC
CCAAGGAATTTCCACGGCAAGTCTTAGGAGGGAATGATTCCCCAGTAATATTCCCTGCCCTGAC
CCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTGCGTAACGCCGGCCACAGAAA
GAGACTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAACTCATCCTACCTTCCCAACC
CTCTGGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAGGCCAGCCGTGATGCTTCCAT
CCCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTGACAAGGACGTGCATATTCCT
TTCACCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCAAGGTGGGGTGCCAGGCACTT
TTGCCAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCTCAATTTGCTCCCCCAAATCT
AGATTGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGGCTTTCCGGCCCTTTGCCTCC
ACCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAAGCGACTTAAGAACTGCCATG
ACACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAGGAATATGACTTTGGGACACA
GCTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTGGGAAGAAGATTTTTGCTGTC
TCTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGATCGGAATGACAGATGTAAGA
AGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATCTGCCAGGTCCTGCTGAG
GCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAGCCCAACTGCCCTCGAGC
AAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTCCCTCCTGTTGTCTGCTT
CCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCTGCCACCGATGACCTCCA
CCATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGCAGACCCGACTGAATGCT
CGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCC
CCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGAGGGAAGG
CTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAG
TATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGCT
CTGGCTTCATCATGTGCAGCGGCAAAGAGAACCCGGACAGTGATGCTGACTTGGATGTGGATGG
GGATGACACTCTGGAGTATGGGAAGCCACAATACACAGAGGCTGATGTCATCCCCTGCACAGGC
GAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCCTAAATGGCGGCCCTC
CCAGCACGCGCATCACACCTGAGTTCTCTAAATGGGCCAGTGATGAGATGCCATCCACCAGCAA
TGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAAGACCTGCAAGAACAGCGACATCGAGAAAATC
ACCGAAGATTCAGCTGTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCAGAGAACTTGAACGGC
AGCTATCTCGTGGGGACCGTTACAAATGCCTCATCTGCATGGACTCGTACTCGATGCCCCTAAC
GTCCATCCAGTGTTGGCACGTGCACTGCGAGGAGTGCTGGCTGCGGACCCTGGGTGCCAAGAAG
CTCTGCCCTCAGTGCAACACGATCACAGCGCCCGGAGACCTGCGGAGGATCTACTTGTGAGCTA
TCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCTCTGTGACAGTGACCG
TCTCCCTTTGTACATACTTGCACACAGGTTCCCCATGTACATACATGCACATACTCAAACATGC
GTACACACACACACATTTACACACGCAGGACTCTGGAGCCAGAGTAGAGGCTGTGGCCCAGGCA
CTACCTGCTGGCTCCCACCTATGGTTTGGGGGCCATACCTGTTCCAGCTCTGTTCCCAGGGTGG
GGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATCCAGCCCCCATACTGA
CAGACGGACAGACAGACATGCAAACACCAGACTGAAGCACATGTAATATAGACCGTGTATGTTT
ACAATGTTGTGTATAAATGGGACAACTCCTCGCCCTCTACCTGTCCCCTCCCCCTTTGGTTGTA
TGATTTTCTTCTTTTTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGGTTGGCTGGGAGCTCG
GCCCATCCACCTCTTGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCCTTCCCTCTCCCATGT
GCTCGGTGTTCAGTGGTGTATATTTCTTCTCCCAGACATGGGGCACACGCCCCAAGGGACATGA
TCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGGTAGAGGCAGGAAATG
GGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCTCCTGGCCACCCAGCC
TCTGCTGAGAACCATTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAAGTGTCGTCTCCCCGA
CCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGTCTGTATATTCTATACAAAGGTACTTGTCCTT
TCCCTTTGTAAACTACATTTGACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

NM_001376487 ⟹ NP_001363416

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,255 - 44,651,723 (+)	NCBI
T2T-CHM13v2.0	1	44,276,175 - 44,522,649 (+)	NCBI

Sequence:

show sequence

ATTCACTGATTAGATCCAGCGCTGAGAGGCAGCACTGCTCCTTCTCTCACGCCAACTGAGTCTC
TTGATCTGTACATGCAATCCCAGGCAGCTCGCGAACACAAACCCGGGGCCAGCCGCCTACTGCT
GCTGCTGCTGCTGCCGCTGCCGCCGCCGCCGCCGCCGCTGCCTCCGCCGGCTCTGCGAACCCGG
GACTTTTCATGCACCACACTCTCCGCCTGCTTCCCTCCGTGTCCTGAAAAGTGCGACCGTTCTC
CCAAGGAATTTCCACGGTCTTAGGAGGGAATGATTCCCCAGTAATATTCCCTGCCCTGACCCAA
AGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTGCGTAACGCCGGCCACAGAAAGAGA
CTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAACTCATCCTACCTTCCCAACCCTCT
GGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAGGCCAGCCGTGATGCTTCCATCCCT
TGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTGACAAGGACGTGCATATTCCTTTCA
CCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCAAGGTGGGGTGCCAGGCACTTTTGC
CAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCTCAATTTGCTCCCCCAAATCTAGAT
TGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGGCTTTCCGGCCCTTTGCCTCCACCG
AGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAAGCGACTTAAGAACTGCCATGACAC
AGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAGGAATATGACTTTGGGACACAGCTG
CCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTGGGAAGAAGATTTTTGCTGTCTCTG
GCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGATCGGAATGACAGATGTAAGAAGAA
AGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATCTGCCAGGTCCTGCTGAGGCCC
AGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAGCCCAACTGCCCTCGAGCAAGA
ATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTCCCTCCTGTTGTCTGCTTCCAT
CAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCTGCCACCGATGACCTCCACCAT
TCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGCAGACCCGACTGAATGCTCGGA
TTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCT
GGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGAGGGAAGGCTCC
TGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATG
AGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGCTCTGG
CTTCATCATGTGCAGCGGCAAAGAGAACCCGGACAGTGATGCTGACTTGGATGTGGATGGGGAT
GACACTCTGGAGTATGGGAAGCCACAATACACAGAGGCTGATGTCATCCCCTGCACAGGCGAGG
AGCCTGGTGAAGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCCTAAATGGCGGCCCTCCCAG
CACGCGCATCACACCTGAGTTCTCTAAATGGGCCAGTGATGAGATGCCATCCACCAGCAATGGT
GAAAGCAGCAAGCAGGAGGCCATGCAGAAGACCTGCAAGAACAGCGACATCGAGAAAATCACCG
AAGATTCAGCTGTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCAGAGAACTTGAACGGCAGCT
ATCTCGTGGGGACCGTTACAAATGCCTCATCTGCATGGACTCGTACTCGATGCCCCTAACGTCC
ATCCAGTGTTGGCACGTGCACTGCGAGGAGTGCTGGCTGCGGACCCTGGGTGCCAAGAAGCTCT
GCCCTCAGTGCAACACGATCACAGCGCCCGGAGACCTGCGGAGGATCTACTTGTGAGCTATCTG
CCCCAGGCAGGCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCTCTGTGACAGTGACCGTCTC
CCTTTGTACATACTTGCACACAGGTTCCCCATGTACATACATGCACATACTCAAACATGCGTAC
ACACACACACATTTACACACGCAGGACTCTGGAGCCAGAGTAGAGGCTGTGGCCCAGGCACTAC
CTGCTGGCTCCCACCTATGGTTTGGGGGCCATACCTGTTCCAGCTCTGTTCCCAGGGTGGGGCA
GGGAGGTGGGGGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATCCAGCCCCCATACTGACAGA
CGGACAGACAGACATGCAAACACCAGACTGAAGCACATGTAATATAGACCGTGTATGTTTACAA
TGTTGTGTATAAATGGGACAACTCCTCGCCCTCTACCTGTCCCCTCCCCCTTTGGTTGTATGAT
TTTCTTCTTTTTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGGTTGGCTGGGAGCTCGGCCC
ATCCACCTCTTGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCCTTCCCTCTCCCATGTGCTC
GGTGTTCAGTGGTGTATATTTCTTCTCCCAGACATGGGGCACACGCCCCAAGGGACATGATCCT
CTCCTTAGTCTTAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGGTAGAGGCAGGAAATGGGAA
CCGAGCTGAAGCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCTCCTGGCCACCCAGCCTCTG
CTGAGAACCATTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAAGTGTCGTCTCCCCGACCCT
CCCGTGGGCCCTGTGGTGTGATGCTGTGTCTGTATATTCTATACAAAGGTACTTGTCCTTTCCC
TTTGTAAACTACATTTGACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

NM_001376488 ⟹ NP_001363417

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,406,792 - 44,651,723 (+)	NCBI
T2T-CHM13v2.0	1	44,277,718 - 44,522,649 (+)	NCBI

Sequence:

show sequence

GGAGAGCTTCCGTGTGGCCCCCCGGGCGAGGCCGCCCACGGTGGTGAGGCCATCCGAGGGGATG
CCCGGTTCATCCCCCAGTCCAGGAGCCTCTCCGAGAGCTCGCGGCCCAGGTCGACCCCAGCTGG
CGAGGGCGCGCAGGAGTCCCGAAGTAGCGGGGACTAGGGCAGCCAGGAGGCAGGGGGAAAGCTC
TCGCTTCCCGTTAAGCACACCCTGCATTCTCGGGTCGTGGATGCAGCTCCAGCGGAGAGCCCGT
GTTCCGGCCCTGAGCCAGGCGCGCGTCGCACTGGGTCTTAGGAGGGAATGATTCCCCAGTAATA
TTCCCTGCCCTGACCCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTGCGTAAC
GCCGGCCACAGAAAGAGACTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAACTCATC
CTACCTTCCCAACCCTCTGGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAGGCCAGC
CGTGATGCTTCCATCCCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTGACAAGG
ACGTGCATATTCCTTTCACCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCAAGGTGG
GGTGCCAGGCACTTTTGCCAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCTCAATTT
GCTCCCCCAAATCTAGATTGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGGCTTTCC
GGCCCTTTGCCTCCACCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAAGCGACT
TAAGAACTGCCATGACACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAGGAATAT
GACTTTGGGACACAGCTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTGGGAAGA
AGATTTTTGCTGTCTCTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGATCGGAA
TGACAGATGTAAGAAGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATCTGC
CAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAGCCC
AACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTCCCT
CCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCTGCC
ACCGATGACCTCCACCATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGCAGA
CCCGACTGAATGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGAGGGAAGG
CTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAG
TATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGCT
CTGGCTTCATCATGTGCAGCGGCAAAGAGAACCCGGACAGTGATGCTGACTTGGATGTGGATGG
GGATGACACTCTGGAGTATGGGAAGCCACAATACACAGAGGCTGATGTCATCCCCTGCACAGGC
GAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCCTAAATGGCGGCCCTC
CCAGCACGCGCATCACACCTGAGTTCTCTAAATGGGCCAGTGATGAGATGCCATCCACCAGCAA
TGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAAGACCTGCAAGAACAGCGACATCGAGAAAATC
ACCGAAGATTCAGCTGTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCAGAGAACTTGAACGGC
AGCTATCTCGTGGGGACCGTTACAAATGCCTCATCTGCATGGACTCGTACTCGATGCCCCTAAC
GTCCATCCAGTGTTGGCACGTGCACTGCGAGGAGTGCTGGCTGCGGACCCTGGGTGCCAAGAAG
CTCTGCCCTCAGTGCAACACGATCACAGCGCCCGGAGACCTGCGGAGGATCTACTTGTGAGCTA
TCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCTCTGTGACAGTGACCG
TCTCCCTTTGTACATACTTGCACACAGGTTCCCCATGTACATACATGCACATACTCAAACATGC
GTACACACACACACATTTACACACGCAGGACTCTGGAGCCAGAGTAGAGGCTGTGGCCCAGGCA
CTACCTGCTGGCTCCCACCTATGGTTTGGGGGCCATACCTGTTCCAGCTCTGTTCCCAGGGTGG
GGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATCCAGCCCCCATACTGA
CAGACGGACAGACAGACATGCAAACACCAGACTGAAGCACATGTAATATAGACCGTGTATGTTT
ACAATGTTGTGTATAAATGGGACAACTCCTCGCCCTCTACCTGTCCCCTCCCCCTTTGGTTGTA
TGATTTTCTTCTTTTTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGGTTGGCTGGGAGCTCG
GCCCATCCACCTCTTGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCCTTCCCTCTCCCATGT
GCTCGGTGTTCAGTGGTGTATATTTCTTCTCCCAGACATGGGGCACACGCCCCAAGGGACATGA
TCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGGTAGAGGCAGGAAATG
GGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCTCCTGGCCACCCAGCC
TCTGCTGAGAACCATTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAAGTGTCGTCTCCCCGA
CCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGTCTGTATATTCTATACAAAGGTACTTGTCCTT
TCCCTTTGTAAACTACATTTGACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

NM_001376489 ⟹ NP_001363418

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,631,968 - 44,651,723 (+)	NCBI
T2T-CHM13v2.0	1	44,502,894 - 44,522,649 (+)	NCBI

Sequence:

show sequence

AGGGCCAACATGGCCGCCGCCGCCGCTTGGAGCTGAAGTGCCGCCGCCGCCGGGCAGCCACGGG
GAATCCGCCCGCATCGCCGCCCTCGCCGGCCGGGCGGCCGTGGGGCCCAGAGCGCCGGAGGCCA
GGGCTGGGGCGGCACCGCGCAGCGGCCACGGGGTCCCGTTAGAGCAGCGCCCGGCGGCTATGCC
GAGAGCCCGGAGCGGCCGGAGGAGCAGAGGGGCCGGCGGGAGGGAGGAAACCTTTCTGCGAGTA
CGAGCCAACCGGCAGACCCGACTGAATGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATG
AAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCA
TGTGGAGCATTGCCTTTCTAAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATC
GAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCA
CCACTCTCCTGGAAGGTGGCTTCCGAGGCTCTGGCTTCATCATGTGCAGCGGCAAAGAGAACCC
GGACAGTGATGCTGACTTGGATGTGGATGGGGATGACACTCTGGAGTATGGGAAGCCACAATAC
ACAGAGGCTGATGTCATCCCCTGCACAGGCGAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCAC
TTCGGGGCGCAGTCCTAAATGGCGGCCCTCCCAGCACGCGCATCACACCTGAGTTCTCTAAATG
GGCCAGTGATGAGATGCCATCCACCAGCAATGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAAG
ACCTGCAAGAACAGCGACATCGAGAAAATCACCGAAGATTCAGCTGTGACCACGTTTGAGGCTC
TGAAGGCTCGGGTCAGAGAACTTGAACGGCAGCTATCTCGTGGGGACCGTTACAAATGCCTCAT
CTGCATGGACTCGTACTCGATGCCCCTAACGTCCATCCAGTGTTGGCACGTGCACTGCGAGGAG
TGCTGGCTGCGGACCCTGGGTGCCAAGAAGCTCTGCCCTCAGTGCAACACGATCACAGCGCCCG
GAGACCTGCGGAGGATCTACTTGTGAGCTATCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCCC
ACCTGCCCCCAGCCTCTGTGACAGTGACCGTCTCCCTTTGTACATACTTGCACACAGGTTCCCC
ATGTACATACATGCACATACTCAAACATGCGTACACACACACACATTTACACACGCAGGACTCT
GGAGCCAGAGTAGAGGCTGTGGCCCAGGCACTACCTGCTGGCTCCCACCTATGGTTTGGGGGCC
ATACCTGTTCCAGCTCTGTTCCCAGGGTGGGGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGGC
ACGGCTCCTAAGATCCAGCCCCCATACTGACAGACGGACAGACAGACATGCAAACACCAGACTG
AAGCACATGTAATATAGACCGTGTATGTTTACAATGTTGTGTATAAATGGGACAACTCCTCGCC
CTCTACCTGTCCCCTCCCCCTTTGGTTGTATGATTTTCTTCTTTTTTAAGAACCCCTGGAAGCA
GCGCCTCCTTCAGGGTTGGCTGGGAGCTCGGCCCATCCACCTCTTGGGGTACCTGCCTCTCTCT
CTCCTGTGGTGTCCCTTCCCTCTCCCATGTGCTCGGTGTTCAGTGGTGTATATTTCTTCTCCCA
GACATGGGGCACACGCCCCAAGGGACATGATCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTTA
TAAGGAGTTGGGGGGTAGAGGCAGGAAATGGGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGGG
CTAGAGGACAGTGCTCCTGGCCACCCAGCCTCTGCTGAGAACCATTCCTGGGATTAGAGCTGCC
TTTCCCAGGGAAAAAGTGTCGTCTCCCCGACCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGTC
TGTATATTCTATACAAAGGTACTTGTCCTTTCCCTTTGTAAACTACATTTGACATGGATTAAAC
CAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

NM_018150 ⟹ NP_060620

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,255 - 44,651,723 (+)	NCBI
GRCh37	1	44,870,837 - 45,117,396 (+)	NCBI
Build 36	1	44,643,547 - 44,889,983 (+)	NCBI Archive
Celera	1	43,154,154 - 43,400,285 (+)	RGD
HuRef	1	42,984,500 - 43,231,589 (+)	ENTREZGENE
CHM1_1	1	44,986,320 - 45,233,292 (+)	NCBI
T2T-CHM13v2.0	1	44,276,175 - 44,522,649 (+)	NCBI

Sequence:

show sequence

ATTCACTGATTAGATCCAGCGCTGAGAGGCAGCACTGCTCCTTCTCTCACGCCAACTGAGTCTC
TTGATCTGTACATGCAATCCCAGGCAGCTCGCGAACACAAACCCGGGGCCAGCCGCCTACTGCT
GCTGCTGCTGCTGCCGCTGCCGCCGCCGCCGCCGCCGCTGCCTCCGCCGGCTCTGCGAACCCGG
GACTTTTCATGCACCACACTCTCCGCCTGCTTCCCTCCGTGTCCTGAAAAGTGCGACCGTTCTC
CCAAGGAATTTCCACGGCAAGTCTTAGGAGGGAATGATTCCCCAGTAATATTCCCTGCCCTGAC
CCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTGCGTAACGCCGGCCACAGAAA
GAGACTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAACTCATCCTACCTTCCCAACC
CTCTGGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAGGCCAGCCGTGATGCTTCCAT
CCCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTGACAAGGACGTGCATATTCCT
TTCACCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCAAGGTGGGGTGCCAGGCACTT
TTGCCAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCTCAATTTGCTCCCCCAAATCT
AGATTGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGGCTTTCCGGCCCTTTGCCTCC
ACCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAAGCGACTTAAGAACTGCCATG
ACACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAGGAATATGACTTTGGGACACA
GCTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTGGGAAGAAGATTTTTGCTGTC
TCTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGATCGGAATGACAGATGTAAGA
AGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATCTGCCAGGTCCTGCTGAG
GCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAGCCCAACTGCCCTCGAGC
AAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTCCCTCCTGTTGTCTGCTT
CCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCTGCCACCGATGACCTCCA
CCATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGCAGACCCGACTGAATGCT
CGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGAGGGAAGGCTCCTGCATGGCTG
AGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGG
ACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGCTCTGGCTTCATCATG
TGCAGCGGCAAAGAGAACCCGGACAGTGATGCTGACTTGGATGTGGATGGGGATGACACTCTGG
AGTATGGGAAGCCACAATACACAGAGGCTGATGTCATCCCCTGCACAGGCGAGGAGCCTGGTGA
AGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCCTAAATGGCGGCCCTCCCAGCACGCGCATC
ACACCTGAGTTCTCTAAATGGGCCAGTGATGAGATGCCATCCACCAGCAATGGTGAAAGCAGCA
AGCAGGAGGCCATGCAGAAGACCTGCAAGAACAGCGACATCGAGAAAATCACCGAAGATTCAGC
TGTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCAGAGAACTTGAACGGCAGCTATCTCGTGGG
GACCGTTACAAATGCCTCATCTGCATGGACTCGTACTCGATGCCCCTAACGTCCATCCAGTGTT
GGCACGTGCACTGCGAGGAGTGCTGGCTGCGGACCCTGGGTGCCAAGAAGCTCTGCCCTCAGTG
CAACACGATCACAGCGCCCGGAGACCTGCGGAGGATCTACTTGTGAGCTATCTGCCCCAGGCAG
GCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCTCTGTGACAGTGACCGTCTCCCTTTGTACA
TACTTGCACACAGGTTCCCCATGTACATACATGCACATACTCAAACATGCGTACACACACACAC
ATTTACACACGCAGGACTCTGGAGCCAGAGTAGAGGCTGTGGCCCAGGCACTACCTGCTGGCTC
CCACCTATGGTTTGGGGGCCATACCTGTTCCAGCTCTGTTCCCAGGGTGGGGCAGGGAGGTGGG
GGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATCCAGCCCCCATACTGACAGACGGACAGACA
GACATGCAAACACCAGACTGAAGCACATGTAATATAGACCGTGTATGTTTACAATGTTGTGTAT
AAATGGGACAACTCCTCGCCCTCTACCTGTCCCCTCCCCCTTTGGTTGTATGATTTTCTTCTTT
TTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGGTTGGCTGGGAGCTCGGCCCATCCACCTCT
TGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCCTTCCCTCTCCCATGTGCTCGGTGTTCAGT
GGTGTATATTTCTTCTCCCAGACATGGGGCACACGCCCCAAGGGACATGATCCTCTCCTTAGTC
TTAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGGTAGAGGCAGGAAATGGGAACCGAGCTGAA
GCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCTCCTGGCCACCCAGCCTCTGCTGAGAACCA
TTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAAGTGTCGTCTCCCCGACCCTCCCGTGGGCC
CTGTGGTGTGATGCTGTGTCTGTATATTCTATACAAAGGTACTTGTCCTTTCCCTTTGTAAACT
ACATTTGACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

XM_006710735 ⟹ XP_006710798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,160 - 44,636,500 (+)	NCBI

Sequence:

show sequence

GAGTCCCTGGGAGAGTGGAGGCTCATTCACTGATTAGATCCAGCGCTGAGAGGCAGCACTGCTC
CTTCTCTCACGCCAACTGAGTCTCTTGATCTGTACATGCAATCCCAGGCAGCTCGCGAACACAA
ACCCGGGGCCAGCCGCCTACTGCTGCTGCTGCTGCTGCCGCTGCCGCCGCCGCCGCCGCCGCTG
CCTCCGCCGGCTCTGCGAACCCGGGACTTTTCATGCACCACACTCTCCGCCTGCTTCCCTCCGT
GTCCTGAAAAGTGCGACCGTTCTCCCAAGGAATTTCCACGGTCTTAGGAGGGAATGATTCCCCA
GTAATATTCCCTGCCCTGACCCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTG
CGTAACGCCGGCCACAGAAAGAGACTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAA
CTCATCCTACCTTCCCAACCCTCTGGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAG
GCCAGCCGTGATGCTTCCATCCCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTG
ACAAGGACGTGCATATTCCTTTCACCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCA
AGGTGGGGTGCCAGGCACTTTTGCCAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCT
CAATTTGCTCCCCCAAATCTAGATTGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGG
CTTTCCGGCCCTTTGCCTCCACCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAA
GCGACTTAAGAACTGCCATGACACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAG
GAATATGACTTTGGGACACAGCTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTG
GGAAGAAGATTTTTGCTGTCTCTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGA
TCGGAATGACAGATGTAAGAAGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCC
ATCTGCCAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGC
TAGCCCAACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAA
GTCCCTCCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCA
TCTGCCACCGATGACCTCCACCATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACC
GGCAGACCCGACTGAATGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGC
ATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCAC
TCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCA
GGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATC
CGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGAT
GTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTG
ACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCT
GCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCA

hide sequence

RefSeq Acc Id:

XM_011541698 ⟹ XP_011540000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,408,150 - 44,651,724 (+)	NCBI

Sequence:

show sequence

GCATTTCACCCAGAACGTGTAGGGACCAAAGTCAGCTACGCGTACATCACAGTCTTAGGAGGGA
ATGATTCCCCAGTAATATTCCCTGCCCTGACCCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAG
ACTGCTTCTTGCGTAACGCCGGCCACAGAAAGAGACTCCGATGGACTTACACCGGGCAGCCTTC
AAGATGGAGAACTCATCCTACCTTCCCAACCCTCTGGCATCCCCAGCACTGATGGTCCTGGCAT
CCACGGCTGAGGCCAGCCGTGATGCTTCCATCCCTTGTCAGCAGCCACGACCCTTTGGTGTACC
TGTCTCAGTTGACAAGGACGTGCATATTCCTTTCACCAACGGTTCCTATACCTTTGCCTCTATG
TACCATCGGCAAGGTGGGGTGCCAGGCACTTTTGCCAATCGTGATTTCCCCCCTTCTCTACTAC
ACCTCCACCCTCAATTTGCTCCCCCAAATCTAGATTGCACCCCAATCAGTATGCTGAATCATAG
TGGTGTGGGGGCTTTCCGGCCCTTTGCCTCCACCGAGGACCGGGAGAGCTATCAGTCAGCCTTT
ACGCCGGCCAAGCGACTTAAGAACTGCCATGACACAGAGTCTCCCCACTTGCGCTTCTCAGATG
CAGATGGCAAGGAATATGACTTTGGGACACAGCTGCCATCTAGCTCCCCCGGTTCACTAAAGGT
TGATGACACTGGGAAGAAGATTTTTGCTGTCTCTGGCCTCATTTCTGATCGGGAAGCCTCATCT
AGCCCAGAGGATCGGAATGACAGATGTAAGAAGAAAGCAGCGGCATTGTTCGACAGCCAGGCCC
CAATTTGCCCCATCTGCCAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGCATATGGAGCAGGA
ACTGGAGCAGCTAGCCCAACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGATGCCATGGCTCCA
GGCACCCCAAAGTCCCTCCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAGTCTCCAACGGCAT
CACCCCACTCATCTGCCACCGATGACCTCCACCATTCAGACAGATACCAGACCTTTCTGCGAGT
ACGAGCCAACCGGCAGACCCGACTGAATGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGAT
GAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGC
ATGTGGAGCATTGCCTTTCTAAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACAT
CGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCC
ACCACTCTCCTGGAAGGTGGCTTCCGAGGCTCTGGCTTCATCATGTGCAGCGGCAAAGAGAACC
CGGACAGTGATGCTGACTTGGATGTGGATGGGGATGACACTCTGGAGTATGGGAAGCCACAATA
CACAGAGGCTGATGTCATCCCCTGCACAGGCGAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCA
CTTCGGGGCGCAGTCCTAAATGGCGGCCCTCCCAGCACGCGCATCACACCTGAGTTCTCTAAAT
GGGCCAGTGATGAGATGCCATCCACCAGCAATGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAA
GACCTGCAAGAACAGCGACATCGAGAAAATCACCGAAGATTCAGCTGTGACCACGTTTGAGGCT
CTGAAGGCTCGGGTCAGAGAACTTGAACGGCAGCTATCTCGTGGGGACCGTTACAAATGCCTCA
TCTGCATGGACTCGTACTCGATGCCCCTAACGTCCATCCAGTGTTGGCACGTGCACTGCGAGGA
GTGCTGGCTGCGGACCCTGGGTGCCAAGAAGCTCTGCCCTCAGTGCAACACGATCACAGCGCCC
GGAGACCTGCGGAGGATCTACTTGTGAGCTATCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCC
CACCTGCCCCCAGCCTCTGTGACAGTGACCGTCTCCCTTTGTACATACTTGCACACAGGTTCCC
CATGTACATACATGCACATACTCAAACATGCGTACACACACACACATTTACACACGCAGGACTC
TGGAGCCAGAGTAGAGGCTGTGGCCCAGGCACTACCTGCTGGCTCCCACCTATGGTTTGGGGGC
CATACCTGTTCCAGCTCTGTTCCCAGGGTGGGGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGG
CACGGCTCCTAAGATCCAGCCCCCATACTGACAGACGGACAGACAGACATGCAAACACCAGACT
GAAGCACATGTAATATAGACCGTGTATGTTTACAATGTTGTGTATAAATGGGACAACTCCTCGC
CCTCTACCTGTCCCCTCCCCCTTTGGTTGTATGATTTTCTTCTTTTTTAAGAACCCCTGGAAGC
AGCGCCTCCTTCAGGGTTGGCTGGGAGCTCGGCCCATCCACCTCTTGGGGTACCTGCCTCTCTC
TCTCCTGTGGTGTCCCTTCCCTCTCCCATGTGCTCGGTGTTCAGTGGTGTATATTTCTTCTCCC
AGACATGGGGCACACGCCCCAAGGGACATGATCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTT
ATAAGGAGTTGGGGGGTAGAGGCAGGAAATGGGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGG
GCTAGAGGACAGTGCTCCTGGCCACCCAGCCTCTGCTGAGAACCATTCCTGGGATTAGAGCTGC
CTTTCCCAGGGAAAAAGTGTCGTCTCCCCGACCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGT
CTGTATATTCTATACAAAGGTACTTGTCCTTTCCCTTTGTAAACTACATTTGACATGGATTAAA
CCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

XM_011541699 ⟹ XP_011540001

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,406,792 - 44,651,724 (+)	NCBI

Sequence:

show sequence

CTTTTCTTCCAGGGCACAACAAACTTGGGCGGAGAGCTTCCGTGTGGCCCCCCGGGCGAGGCCG
CCCACGGTGGTGAGGCCATCCGAGGGGATGCCCGGTTCATCCCCCAGTCCAGGAGCCTCTCCGA
GAGCTCGCGGCCCAGGTCGACCCCAGCTGGCGAGGGCGCGCAGGAGTCCCGAAGTAGCGGGGAC
TAGGGCAGCCAGGAGGCAGGGGGAAAGCTCTCGCTTCCCGTTAAGCACACCCTGCATTCTCGGG
TCGTGGATGCAGCTCCAGCGGAGAGCCCGTGTTCCGGCCCTGAGCCAGGCGCGCGTCGCACTGG
GTCTTAGGAGGGAATGATTCCCCAGTAATATTCCCTGCCCTGACCCAAAGTGCTGGTTGGCCTC
CCTCCCAGGGAAGACTGCTTCTTGCGTAACGCCGGCCACAGAAAGAGACTCCGATGGACTTACA
CCGGGCAGCCTTCAAGATGGAGAACTCATCCTACCTTCCCAACCCTCTGGCATCCCCAGCACTG
ATGGTCCTGGCATCCACGGCTGAGGCCAGCCGTGATGCTTCCATCCCTTGTCAGCAGCCACGAC
CCTTTGGTGTACCTGTCTCAGTTGACAAGGACGTGCATATTCCTTTCACCAACGGTTCCTATAC
CTTTGCCTCTATGTACCATCGGCAAGGTGGGGTGCCAGGCACTTTTGCCAATCGTGATTTCCCC
CCTTCTCTACTACACCTCCACCCTCAATTTGCTCCCCCAAATCTAGATTGCACCCCAATCAGTA
TGCTGAATCATAGTGGTGTGGGGGCTTTCCGGCCCTTTGCCTCCACCGAGGACCGGGAGAGCTA
TCAGTCAGCCTTTACGCCGGCCAAGCGACTTAAGAACTGCCATGACACAGAGTCTCCCCACTTG
CGCTTCTCAGATGCAGATGGCAAGGAATATGACTTTGGGACACAGCTGCCATCTAGCTCCCCCG
GTTCACTAAAGGTTGATGACACTGGGAAGAAGATTTTTGCTGTCTCTGGCCTCATTTCTGATCG
GGAAGCCTCATCTAGCCCAGAGGATCGGAATGACAGATGTAAGAAGAAAGCAGCGGCATTGTTC
GACAGCCAGGCCCCAATTTGCCCCATCTGCCAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGC
ATATGGAGCAGGAACTGGAGCAGCTAGCCCAACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGA
TGCCATGGCTCCAGGCACCCCAAAGTCCCTCCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAG
TCTCCAACGGCATCACCCCACTCATCTGCCACCGATGACCTCCACCATTCAGACAGATACCAGA
CCTTTCTGCGAGTACGAGCCAACCGGCAGACCCGACTGAATGCTCGGATTGGGAAAATGAAACG
GAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAG
GAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGAGGGAAGGCTCCTGCATGGCTGAGGATG
ATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAA
GCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGCTCTGGCTTCATCATGTGCAGC
GGCAAAGAGAACCCGGACAGTGATGCTGACTTGGATGTGGATGGGGATGACACTCTGGAGTATG
GGAAGCCACAATACACAGAGGCTGATGTCATCCCCTGCACAGGCGAGGAGCCTGGTGAAGCCAA
GGAGAGAGAGGCACTTCGGGGCGCAGTCCTAAATGGCGGCCCTCCCAGCACGCGCATCACACCT
GAGTTCTCTAAATGGGCCAGTGATGAGATGCCATCCACCAGCAATGGTGAAAGCAGCAAGCAGG
AGGCCATGCAGAAGACCTGCAAGAACAGCGACATCGAGAAAATCACCGAAGATTCAGCTGTGAC
CACGTTTGAGGCTCTGAAGGCTCGGGTCAGAGAACTTGAACGGCAGCTATCTCGTGGGGACCGT
TACAAATGCCTCATCTGCATGGACTCGTACTCGATGCCCCTAACGTCCATCCAGTGTTGGCACG
TGCACTGCGAGGAGTGCTGGCTGCGGACCCTGGGTGCCAAGAAGCTCTGCCCTCAGTGCAACAC
GATCACAGCGCCCGGAGACCTGCGGAGGATCTACTTGTGAGCTATCTGCCCCAGGCAGGCCTCG
CCTCCAGCAGCCCCACCTGCCCCCAGCCTCTGTGACAGTGACCGTCTCCCTTTGTACATACTTG
CACACAGGTTCCCCATGTACATACATGCACATACTCAAACATGCGTACACACACACACATTTAC
ACACGCAGGACTCTGGAGCCAGAGTAGAGGCTGTGGCCCAGGCACTACCTGCTGGCTCCCACCT
ATGGTTTGGGGGCCATACCTGTTCCAGCTCTGTTCCCAGGGTGGGGCAGGGAGGTGGGGGTTGG
GGGAGTAGTGGGGCACGGCTCCTAAGATCCAGCCCCCATACTGACAGACGGACAGACAGACATG
CAAACACCAGACTGAAGCACATGTAATATAGACCGTGTATGTTTACAATGTTGTGTATAAATGG
GACAACTCCTCGCCCTCTACCTGTCCCCTCCCCCTTTGGTTGTATGATTTTCTTCTTTTTTAAG
AACCCCTGGAAGCAGCGCCTCCTTCAGGGTTGGCTGGGAGCTCGGCCCATCCACCTCTTGGGGT
ACCTGCCTCTCTCTCTCCTGTGGTGTCCCTTCCCTCTCCCATGTGCTCGGTGTTCAGTGGTGTA
TATTTCTTCTCCCAGACATGGGGCACACGCCCCAAGGGACATGATCCTCTCCTTAGTCTTAGCT
CATGGGGCTCTTTATAAGGAGTTGGGGGGTAGAGGCAGGAAATGGGAACCGAGCTGAAGCAGAG
GCTGAGTTAGGGGGCTAGAGGACAGTGCTCCTGGCCACCCAGCCTCTGCTGAGAACCATTCCTG
GGATTAGAGCTGCCTTTCCCAGGGAAAAAGTGTCGTCTCCCCGACCCTCCCGTGGGCCCTGTGG
TGTGATGCTGTGTCTGTATATTCTATACAAAGGTACTTGTCCTTTCCCTTTGTAAACTACATTT
GACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

XM_011541700 ⟹ XP_011540002

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,410,537 - 44,651,724 (+)	NCBI

Sequence:

show sequence

GAGAAGGAAATACTCTCTTTGCACTGCATTAAGCCAGGAGGATTCATCTACCGTTTAACTGATG
TTTCTCTGTTTGAGGGAATACCAAAGATACTCCAGGTCTTAGGAGGGAATGATTCCCCAGTAAT
ATTCCCTGCCCTGACCCAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTGCGTAA
CGCCGGCCACAGAAAGAGACTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAACTCAT
CCTACCTTCCCAACCCTCTGGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAGGCCAG
CCGTGATGCTTCCATCCCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTGACAAG
GACGTGCATATTCCTTTCACCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCAAGGTG
GGGTGCCAGGCACTTTTGCCAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCTCAATT
TGCTCCCCCAAATCTAGATTGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGGCTTTC
CGGCCCTTTGCCTCCACCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAAGCGAC
TTAAGAACTGCCATGACACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAGGAATA
TGACTTTGGGACACAGCTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTGGGAAG
AAGATTTTTGCTGTCTCTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGATCGGA
ATGACAGATGTAAGAAGAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATCTG
CCAGGTCCTGCTGAGGCCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAGCC
CAACTGCCCTCGAGCAAGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTCCC
TCCTGTTGTCTGCTTCCATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCTGC
CACCGATGACCTCCACCATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGCAG
ACCCGACTGAATGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTC
CCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCT
TTCTAAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAAC
AACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAG
GTGGCTTCCGAGGCTCTGGCTTCATCATGTGCAGCGGCAAAGAGAACCCGGACAGTGATGCTGA
CTTGGATGTGGATGGGGATGACACTCTGGAGTATGGGAAGCCACAATACACAGAGGCTGATGTC
ATCCCCTGCACAGGCGAGGAGCCTGGTGAAGCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCC
TAAATGGCGGCCCTCCCAGCACGCGCATCACACCTGAGTTCTCTAAATGGGCCAGTGATGAGAT
GCCATCCACCAGCAATGGTGAAAGCAGCAAGCAGGAGGCCATGCAGAAGACCTGCAAGAACAGC
GACATCGAGAAAATCACCGAAGATTCAGCTGTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCA
GAGAACTTGAACGGCAGCTATCTCGTGGGGACCGTTACAAATGCCTCATCTGCATGGACTCGTA
CTCGATGCCCCTAACGTCCATCCAGTGTTGGCACGTGCACTGCGAGGAGTGCTGGCTGCGGACC
CTGGGTGCCAAGAAGCTCTGCCCTCAGTGCAACACGATCACAGCGCCCGGAGACCTGCGGAGGA
TCTACTTGTGAGCTATCTGCCCCAGGCAGGCCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCT
CTGTGACAGTGACCGTCTCCCTTTGTACATACTTGCACACAGGTTCCCCATGTACATACATGCA
CATACTCAAACATGCGTACACACACACACATTTACACACGCAGGACTCTGGAGCCAGAGTAGAG
GCTGTGGCCCAGGCACTACCTGCTGGCTCCCACCTATGGTTTGGGGGCCATACCTGTTCCAGCT
CTGTTCCCAGGGTGGGGCAGGGAGGTGGGGGTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATC
CAGCCCCCATACTGACAGACGGACAGACAGACATGCAAACACCAGACTGAAGCACATGTAATAT
AGACCGTGTATGTTTACAATGTTGTGTATAAATGGGACAACTCCTCGCCCTCTACCTGTCCCCT
CCCCCTTTGGTTGTATGATTTTCTTCTTTTTTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGG
TTGGCTGGGAGCTCGGCCCATCCACCTCTTGGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCC
TTCCCTCTCCCATGTGCTCGGTGTTCAGTGGTGTATATTTCTTCTCCCAGACATGGGGCACACG
CCCCAAGGGACATGATCCTCTCCTTAGTCTTAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGG
TAGAGGCAGGAAATGGGAACCGAGCTGAAGCAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCT
CCTGGCCACCCAGCCTCTGCTGAGAACCATTCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAA
GTGTCGTCTCCCCGACCCTCCCGTGGGCCCTGTGGTGTGATGCTGTGTCTGTATATTCTATACA
AAGGTACTTGTCCTTTCCCTTTGTAAACTACATTTGACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

XM_017001625 ⟹ XP_016857114

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,407,435 - 44,651,724 (+)	NCBI

Sequence:

show sequence

GGCAGAAAGAGCGTCGAGGAAGAGCGGTGCTGGCGTCTTCCGTGCCGATCCCTCCTGGCCCGCA
GAGACCCGGCAAAAGTGGCGTCTTAGGAGGGAATGATTCCCCAGTAATATTCCCTGCCCTGACC
CAAAGTGCTGGTTGGCCTCCCTCCCAGGGAAGACTGCTTCTTGCGTAACGCCGGCCACAGAAAG
AGACTCCGATGGACTTACACCGGGCAGCCTTCAAGATGGAGAACTCATCCTACCTTCCCAACCC
TCTGGCATCCCCAGCACTGATGGTCCTGGCATCCACGGCTGAGGCCAGCCGTGATGCTTCCATC
CCTTGTCAGCAGCCACGACCCTTTGGTGTACCTGTCTCAGTTGACAAGGACGTGCATATTCCTT
TCACCAACGGTTCCTATACCTTTGCCTCTATGTACCATCGGCAAGGTGGGGTGCCAGGCACTTT
TGCCAATCGTGATTTCCCCCCTTCTCTACTACACCTCCACCCTCAATTTGCTCCCCCAAATCTA
GATTGCACCCCAATCAGTATGCTGAATCATAGTGGTGTGGGGGCTTTCCGGCCCTTTGCCTCCA
CCGAGGACCGGGAGAGCTATCAGTCAGCCTTTACGCCGGCCAAGCGACTTAAGAACTGCCATGA
CACAGAGTCTCCCCACTTGCGCTTCTCAGATGCAGATGGCAAGGAATATGACTTTGGGACACAG
CTGCCATCTAGCTCCCCCGGTTCACTAAAGGTTGATGACACTGGGAAGAAGATTTTTGCTGTCT
CTGGCCTCATTTCTGATCGGGAAGCCTCATCTAGCCCAGAGGATCGGAATGACAGATGTAAGAA
GAAAGCAGCGGCATTGTTCGACAGCCAGGCCCCAATTTGCCCCATCTGCCAGGTCCTGCTGAGG
CCCAGTGAGCTGCAGGAGCATATGGAGCAGGAACTGGAGCAGCTAGCCCAACTGCCCTCGAGCA
AGAATTCCCTTCTGAAGGATGCCATGGCTCCAGGCACCCCAAAGTCCCTCCTGTTGTCTGCTTC
CATCAAGAGGGAAGGAGAGTCTCCAACGGCATCACCCCACTCATCTGCCACCGATGACCTCCAC
CATTCAGACAGATACCAGACCTTTCTGCGAGTACGAGCCAACCGGCAGACCCGACTGAATGCTC
GGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGAGGGAAGGCTCCTGCATGGCTGA
GGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGA
CAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGCTCTGGCTTCATCATGT
GCAGCGGCAAAGAGAACCCGGACAGTGATGCTGACTTGGATGTGGATGGGGATGACACTCTGGA
GTATGGGAAGCCACAATACACAGAGGCTGATGTCATCCCCTGCACAGGCGAGGAGCCTGGTGAA
GCCAAGGAGAGAGAGGCACTTCGGGGCGCAGTCCTAAATGGCGGCCCTCCCAGCACGCGCATCA
CACCTGAGTTCTCTAAATGGGCCAGTGATGAGATGCCATCCACCAGCAATGGTGAAAGCAGCAA
GCAGGAGGCCATGCAGAAGACCTGCAAGAACAGCGACATCGAGAAAATCACCGAAGATTCAGCT
GTGACCACGTTTGAGGCTCTGAAGGCTCGGGTCAGAGAACTTGAACGGCAGCTATCTCGTGGGG
ACCGTTACAAATGCCTCATCTGCATGGACTCGTACTCGATGCCCCTAACGTCCATCCAGTGTTG
GCACGTGCACTGCGAGGAGTGCTGGCTGCGGACCCTGGGTGCCAAGAAGCTCTGCCCTCAGTGC
AACACGATCACAGCGCCCGGAGACCTGCGGAGGATCTACTTGTGAGCTATCTGCCCCAGGCAGG
CCTCGCCTCCAGCAGCCCCACCTGCCCCCAGCCTCTGTGACAGTGACCGTCTCCCTTTGTACAT
ACTTGCACACAGGTTCCCCATGTACATACATGCACATACTCAAACATGCGTACACACACACACA
TTTACACACGCAGGACTCTGGAGCCAGAGTAGAGGCTGTGGCCCAGGCACTACCTGCTGGCTCC
CACCTATGGTTTGGGGGCCATACCTGTTCCAGCTCTGTTCCCAGGGTGGGGCAGGGAGGTGGGG
GTTGGGGGAGTAGTGGGGCACGGCTCCTAAGATCCAGCCCCCATACTGACAGACGGACAGACAG
ACATGCAAACACCAGACTGAAGCACATGTAATATAGACCGTGTATGTTTACAATGTTGTGTATA
AATGGGACAACTCCTCGCCCTCTACCTGTCCCCTCCCCCTTTGGTTGTATGATTTTCTTCTTTT
TTAAGAACCCCTGGAAGCAGCGCCTCCTTCAGGGTTGGCTGGGAGCTCGGCCCATCCACCTCTT
GGGGTACCTGCCTCTCTCTCTCCTGTGGTGTCCCTTCCCTCTCCCATGTGCTCGGTGTTCAGTG
GTGTATATTTCTTCTCCCAGACATGGGGCACACGCCCCAAGGGACATGATCCTCTCCTTAGTCT
TAGCTCATGGGGCTCTTTATAAGGAGTTGGGGGGTAGAGGCAGGAAATGGGAACCGAGCTGAAG
CAGAGGCTGAGTTAGGGGGCTAGAGGACAGTGCTCCTGGCCACCCAGCCTCTGCTGAGAACCAT
TCCTGGGATTAGAGCTGCCTTTCCCAGGGAAAAAGTGTCGTCTCCCCGACCCTCCCGTGGGCCC
TGTGGTGTGATGCTGTGTCTGTATATTCTATACAAAGGTACTTGTCCTTTCCCTTTGTAAACTA
CATTTGACATGGATTAAACCAGTATAAACAGTT

hide sequence

RefSeq Acc Id:

XM_047424269 ⟹ XP_047280225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,404,783 - 44,651,724 (+)	NCBI

RefSeq Acc Id:

XM_047424277 ⟹ XP_047280233

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,404,783 - 44,651,724 (+)	NCBI

RefSeq Acc Id:

XM_047424280 ⟹ XP_047280236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,407,435 - 44,651,724 (+)	NCBI

RefSeq Acc Id:

XM_047424281 ⟹ XP_047280237

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,612,509 - 44,651,724 (+)	NCBI

RefSeq Acc Id:

XM_047424282 ⟹ XP_047280238

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,631,968 - 44,651,724 (+)	NCBI

RefSeq Acc Id:

XM_054337409 ⟹ XP_054193384

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,277,718 - 44,522,650 (+)	NCBI

RefSeq Acc Id:

XM_054337410 ⟹ XP_054193385

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,279,076 - 44,522,650 (+)	NCBI

RefSeq Acc Id:

XM_054337411 ⟹ XP_054193386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,281,463 - 44,522,650 (+)	NCBI

RefSeq Acc Id:

XM_054337412 ⟹ XP_054193387

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,278,366 - 44,522,650 (+)	NCBI

RefSeq Acc Id:

XM_054337413 ⟹ XP_054193388

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,483,369 - 44,522,650 (+)	NCBI

RefSeq Acc Id:

XM_054337414 ⟹ XP_054193389

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,276,080 - 44,507,426 (+)	NCBI

RefSeq Acc Id:

XM_054337415 ⟹ XP_054193390

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,502,894 - 44,522,650 (+)	NCBI

RefSeq Acc Id:

XR_007061417

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,160 - 44,632,390 (+)	NCBI

RefSeq Acc Id:

XR_008486089

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	44,276,080 - 44,503,316 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001306885	(Get FASTA)	NCBI Sequence Viewer
	NP_001306886	(Get FASTA)	NCBI Sequence Viewer
	NP_001363415	(Get FASTA)	NCBI Sequence Viewer
	NP_001363416	(Get FASTA)	NCBI Sequence Viewer
	NP_001363417	(Get FASTA)	NCBI Sequence Viewer
	NP_001363418	(Get FASTA)	NCBI Sequence Viewer
	NP_060620	(Get FASTA)	NCBI Sequence Viewer
	XP_006710798	(Get FASTA)	NCBI Sequence Viewer
	XP_011540000	(Get FASTA)	NCBI Sequence Viewer
	XP_011540001	(Get FASTA)	NCBI Sequence Viewer
	XP_011540002	(Get FASTA)	NCBI Sequence Viewer
	XP_016857114	(Get FASTA)	NCBI Sequence Viewer
	XP_047280225	(Get FASTA)	NCBI Sequence Viewer
	XP_047280233	(Get FASTA)	NCBI Sequence Viewer
	XP_047280236	(Get FASTA)	NCBI Sequence Viewer
	XP_047280237	(Get FASTA)	NCBI Sequence Viewer
	XP_047280238	(Get FASTA)	NCBI Sequence Viewer
	XP_054193384	(Get FASTA)	NCBI Sequence Viewer
	XP_054193385	(Get FASTA)	NCBI Sequence Viewer
	XP_054193386	(Get FASTA)	NCBI Sequence Viewer
	XP_054193387	(Get FASTA)	NCBI Sequence Viewer
	XP_054193388	(Get FASTA)	NCBI Sequence Viewer
	XP_054193389	(Get FASTA)	NCBI Sequence Viewer
	XP_054193390	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF36166	(Get FASTA)	NCBI Sequence Viewer
	AAH00279	(Get FASTA)	NCBI Sequence Viewer
	AAH34221	(Get FASTA)	NCBI Sequence Viewer
	AAH98266	(Get FASTA)	NCBI Sequence Viewer
	AAH98300	(Get FASTA)	NCBI Sequence Viewer
	BAA91704	(Get FASTA)	NCBI Sequence Viewer
	BAG51705	(Get FASTA)	NCBI Sequence Viewer
	BAG54095	(Get FASTA)	NCBI Sequence Viewer
	BAG56918	(Get FASTA)	NCBI Sequence Viewer
	BAG58804	(Get FASTA)	NCBI Sequence Viewer
	BAG59711	(Get FASTA)	NCBI Sequence Viewer
	EAX07034	(Get FASTA)	NCBI Sequence Viewer
	EAX07036	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000335580
	ENSP00000335580.7
	ENSP00000347548
	ENSP00000347548.2
	ENSP00000354872
	ENSP00000354872.2
	ENSP00000388533
	ENSP00000388533.2
	ENSP00000411541.1
	ENSP00000475383.1
GenBank Protein	Q5VTB9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_060620 ⟸ NM_018150
- Peptide Label:	isoform 1
- UniProtKB:	Q4KMX2 (UniProtKB/Swiss-Prot), E9PCS1 (UniProtKB/Swiss-Prot), B4DLZ9 (UniProtKB/Swiss-Prot), B3KPJ3 (UniProtKB/Swiss-Prot), Q9NVP6 (UniProtKB/Swiss-Prot), Q5VTB9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIG KMKRRKQDEGQREGSCMAEDDAVDIEHENNNRFEEYEWCGQKRIRATTLLEGGFRGSGFIMCSG KENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEPGEAKEREALRGAVLNGGPPSTRITPE FSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITEDSAVTTFEALKARVRELERQLSRGDRY KCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCPQCNTITAPGDLRRIYL hide sequence

RefSeq Acc Id:

XP_006710798 ⟸ XM_006710735

- Peptide Label:

isoform X4

- Sequence:

show sequence

MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN
GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED
RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL
ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS
LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNEGRL
LHG

hide sequence

RefSeq Acc Id:

XP_011540001 ⟸ XM_011541699

- Peptide Label:

isoform X1

- Sequence:

show sequence

MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN
GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED
RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL
ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS
LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIG
KMKRRKQDEGQVCPLCNRPLAGSEQEMSRHVEHCLSKREGSCMAEDDAVDIEHENNNRFEEYEW
CGQKRIRATTLLEGGFRGSGFIMCSGKENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEP
GEAKEREALRGAVLNGGPPSTRITPEFSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITED
SAVTTFEALKARVRELERQLSRGDRYKCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCP
QCNTITAPGDLRRIYL

hide sequence

RefSeq Acc Id:

XP_011540002 ⟸ XM_011541700

- Peptide Label:

isoform X1

- Sequence:

show sequence

MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN
GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED
RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL
ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS
LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIG
KMKRRKQDEGQVCPLCNRPLAGSEQEMSRHVEHCLSKREGSCMAEDDAVDIEHENNNRFEEYEW
CGQKRIRATTLLEGGFRGSGFIMCSGKENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEP
GEAKEREALRGAVLNGGPPSTRITPEFSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITED
SAVTTFEALKARVRELERQLSRGDRYKCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCP
QCNTITAPGDLRRIYL

hide sequence

RefSeq Acc Id:

XP_011540000 ⟸ XM_011541698

- Peptide Label:

isoform X1

- Sequence:

show sequence

MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN
GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED
RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL
ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS
LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIG
KMKRRKQDEGQVCPLCNRPLAGSEQEMSRHVEHCLSKREGSCMAEDDAVDIEHENNNRFEEYEW
CGQKRIRATTLLEGGFRGSGFIMCSGKENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEP
GEAKEREALRGAVLNGGPPSTRITPEFSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITED
SAVTTFEALKARVRELERQLSRGDRYKCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCP
QCNTITAPGDLRRIYL

hide sequence

RefSeq Acc Id:	NP_001306885 ⟸ NM_001319956
- Peptide Label:	isoform 1
- UniProtKB:	Q4KMX2 (UniProtKB/Swiss-Prot), E9PCS1 (UniProtKB/Swiss-Prot), B4DLZ9 (UniProtKB/Swiss-Prot), B3KPJ3 (UniProtKB/Swiss-Prot), Q9NVP6 (UniProtKB/Swiss-Prot), Q5VTB9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIG KMKRRKQDEGQREGSCMAEDDAVDIEHENNNRFEEYEWCGQKRIRATTLLEGGFRGSGFIMCSG KENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEPGEAKEREALRGAVLNGGPPSTRITPE FSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITEDSAVTTFEALKARVRELERQLSRGDRY KCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCPQCNTITAPGDLRRIYL hide sequence

RefSeq Acc Id:	NP_001306886 ⟸ NM_001319957
- Peptide Label:	isoform 2
- UniProtKB:	Q5VTB9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEQELEQLAQLPSSKNSLLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQT FLRVRANRQTRLNARIGKMKRRKQDEGQVCPLCNRPLAGSEQEMSRHVEHCLSKREGSCMAEDD AVDIEHENNNRFEEYEWCGQKRIRATTLLEGGFRGSGFIMCSGKENPDSDADLDVDGDDTLEYG KPQYTEADVIPCTGEEPGEAKEREALRGAVLNGGPPSTRITPEFSKWASDEMPSTSNGESSKQE AMQKTCKNSDIEKITEDSAVTTFEALKARVRELERQLSRGDRYKCLICMDSYSMPLTSIQCWHV HCEECWLRTLGAKKLCPQCNTITAPGDLRRIYL hide sequence

RefSeq Acc Id:	XP_016857114 ⟸ XM_017001625
- Peptide Label:	isoform X2
- UniProtKB:	Q4KMX2 (UniProtKB/Swiss-Prot), E9PCS1 (UniProtKB/Swiss-Prot), B4DLZ9 (UniProtKB/Swiss-Prot), B3KPJ3 (UniProtKB/Swiss-Prot), Q9NVP6 (UniProtKB/Swiss-Prot), Q5VTB9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTN GSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTED RESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGL ISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNS LLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIG KMKRRKQDEGQREGSCMAEDDAVDIEHENNNRFEEYEWCGQKRIRATTLLEGGFRGSGFIMCSG KENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEPGEAKEREALRGAVLNGGPPSTRITPE FSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITEDSAVTTFEALKARVRELERQLSRGDRY KCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCPQCNTITAPGDLRRIYL hide sequence

RefSeq Acc Id:	NP_001363415 ⟸ NM_001376486
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001363416 ⟸ NM_001376487
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001363417 ⟸ NM_001376488
- Peptide Label:	isoform 1
- UniProtKB:	Q5VTB9 (UniProtKB/Swiss-Prot), Q4KMX2 (UniProtKB/Swiss-Prot), E9PCS1 (UniProtKB/Swiss-Prot), B4DLZ9 (UniProtKB/Swiss-Prot), B3KPJ3 (UniProtKB/Swiss-Prot), Q9NVP6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001363418 ⟸ NM_001376489
- Peptide Label:	isoform 4
- UniProtKB:	B4DJE2 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000361321 ⟸ ENST00000372247

RefSeq Acc Id:

ENSP00000335580 ⟸ ENST00000335497

RefSeq Acc Id:

ENSP00000411541 ⟸ ENST00000453863

RefSeq Acc Id:

ENSP00000354872 ⟸ ENST00000361799

RefSeq Acc Id:

ENSP00000388533 ⟸ ENST00000440132

RefSeq Acc Id:

ENSP00000347548 ⟸ ENST00000355387

RefSeq Acc Id:

ENSP00000475383 ⟸ ENST00000488865

RefSeq Acc Id:	XP_047280233 ⟸ XM_047424277
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047280225 ⟸ XM_047424269
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047280236 ⟸ XM_047424280
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047280237 ⟸ XM_047424281
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_047280238 ⟸ XM_047424282
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054193389 ⟸ XM_054337414
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054193384 ⟸ XM_054337409
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054193387 ⟸ XM_054337412
- Peptide Label:	isoform X2
- UniProtKB:	Q5VTB9 (UniProtKB/Swiss-Prot), Q4KMX2 (UniProtKB/Swiss-Prot), E9PCS1 (UniProtKB/Swiss-Prot), B4DLZ9 (UniProtKB/Swiss-Prot), B3KPJ3 (UniProtKB/Swiss-Prot), Q9NVP6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054193385 ⟸ XM_054337410
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054193386 ⟸ XM_054337411
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054193388 ⟸ XM_054337413
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054193390 ⟸ XM_054337415
- Peptide Label:	isoform X5

Protein Domains

E3 ubiquitin-protein ligase RNF220 middle

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5VTB9-F1-model_v2	AlphaFold	Q5VTB9	1-566	view protein structure

Promoters

RGD ID:

6855304

Promoter ID:

EPDNEW_H817

Type:

initiation region

Name:

RNF220_1

Description:

ring finger protein 220

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H818

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,255 - 44,405,315	EPDNEW

RGD ID:

6855306

Promoter ID:

EPDNEW_H818

Type:

initiation region

Name:

RNF220_2

Description:

ring finger protein 220

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H817

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	44,405,375 - 44,405,435	EPDNEW

RGD ID:

6786441

Promoter ID:

HG_KWN:2430

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

NM_018150, UC001CLW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	44,643,336 - 44,643,836 (+)	MPROMDB

RGD ID:

6784768

Promoter ID:

HG_KWN:2435

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:

ENST00000335497, OTTHUMT00000021573, OTTHUMT00000021576, OTTHUMT00000021581, OTTHUMT00000021582, OTTHUMT00000021583, OTTHUMT00000021584, OTTHUMT00000021586, UC001CLX.1, UC001CLY.1, UC001CLZ.1, UC001CMA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	44,870,044 - 44,870,544 (+)	MPROMDB

RGD ID:

6786444

Promoter ID:

HG_KWN:2436

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000021587

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	44,875,596 - 44,876,557 (+)	MPROMDB

RGD ID:

6786442

Promoter ID:

HG_KWN:2437

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000021574

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	44,880,521 - 44,882,812 (+)	MPROMDB

RGD ID:

6814872

Promoter ID:

HG_MRA:452

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

BC073835

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	44,883,486 - 44,883,986 (+)	MPROMDB

RGD ID:

6786452

Promoter ID:

HG_KWN:2438

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000372245, OTTHUMT00000021575

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	44,885,871 - 44,886,371 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25552	AgrOrtholog
COSMIC	RNF220	COSMIC
Ensembl Genes	ENSG00000187147	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000335497	ENTREZGENE
	ENST00000335497.11	UniProtKB/TrEMBL
	ENST00000355387	ENTREZGENE
	ENST00000355387.6	UniProtKB/Swiss-Prot
	ENST00000361799	ENTREZGENE
	ENST00000361799.7	UniProtKB/Swiss-Prot
	ENST00000440132	ENTREZGENE
	ENST00000440132.2	UniProtKB/TrEMBL
	ENST00000453863.5	UniProtKB/TrEMBL
	ENST00000488865.2	UniProtKB/TrEMBL
Gene3D-CATH	3.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000187147	GTEx
HGNC ID	HGNC:25552	ENTREZGENE
Human Proteome Map	RNF220	Human Proteome Map
InterPro	RNF220_mid	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNF220_RING	UniProtKB/Swiss-Prot
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:55182	UniProtKB/Swiss-Prot
NCBI Gene	55182	ENTREZGENE
OMIM	616136	OMIM
PANTHER	E3 UBIQUITIN-PROTEIN LIGASE RNF220	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UNCHARACTERIZED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RNF220	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C3HC4_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162401886	PharmGKB
PROSITE	ZF_RING_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KPJ3	ENTREZGENE
	B4DJE2	ENTREZGENE, UniProtKB/TrEMBL
	B4DLZ9	ENTREZGENE
	E9PCS1	ENTREZGENE
	H0Y7B1_HUMAN	UniProtKB/TrEMBL
	Q4KMX2	ENTREZGENE
	Q5TDE7_HUMAN	UniProtKB/TrEMBL
	Q5TDE8_HUMAN	UniProtKB/TrEMBL
	Q5VTB9	ENTREZGENE
	Q9BWG1_HUMAN	UniProtKB/TrEMBL
	Q9NVP6	ENTREZGENE
	RN220_HUMAN	UniProtKB/Swiss-Prot
	U3KPZ6_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B3KPJ3	UniProtKB/Swiss-Prot
	B4DLZ9	UniProtKB/Swiss-Prot
	E9PCS1	UniProtKB/Swiss-Prot
	Q4KMX2	UniProtKB/Swiss-Prot
	Q9NVP6	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

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