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Gene: CPSF6 (cleavage and polyadenylation specific factor 6) Homo sapiens

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Symbol:

CPSF6

Name:

cleavage and polyadenylation specific factor 6

RGD ID:

1312196

HGNC Page

HGNC:13871

Description:

Enables exon-exon junction complex binding activity; mRNA binding activity; and ribosomal large subunit binding activity. Contributes to RNA binding activity. Involved in mRNA 3'-end processing; positive regulation of RNA export from nucleus; and protein heterotetramerization. Located in cytoplasm and nuclear lumen. Part of mRNA cleavage and polyadenylation specificity factor complex and ribonucleoprotein complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CFIM; CFIM68; CFIM72; cleavage and polyadenylation specific factor 6, 68kDa; cleavage and polyadenylation specificity factor 68 kDa subunit; cleavage and polyadenylation specificity factor subunit 6; cleavage factor Im complex 68 kDa subunit; CPSF 68 kDa subunit; HPBRII-4; HPBRII-7; pre-mRNA cleavage factor I, 68kD subunit; pre-mRNA cleavage factor Im (68kD); pre-mRNA cleavage factor Im 68 kDa subunit; protein HPBRII-4/7

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

CPSF6P1

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	12	69,239,569 - 69,274,358 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	69,239,569 - 69,274,358 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	69,633,349 - 69,668,138 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	67,919,667 - 67,951,290 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	67,919,666 - 67,951,290	NCBI
Celera	12	69,297,148 - 69,331,977 (+)	NCBI		Celera
Cytogenetic Map	12	q15	NCBI
HuRef	12	66,694,597 - 66,717,839 (+)	NCBI		HuRef
CHM1_1	12	69,601,666 - 69,636,525 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	69,218,652 - 69,253,462 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

1,2-dimethylhydrazine (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

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

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

2,4-dinitrotoluene (ISO)

2,6-dimethoxyphenol (EXP)

2,6-dinitrotoluene (ISO)

3,3',5,5'-tetrabromobisphenol A (EXP)

3,4-methylenedioxymethamphetamine (ISO)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

amitrole (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Brodifacoum (ISO)

caffeine (EXP)

carbamazepine (EXP)

cobalt dichloride (EXP)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

cyclosporin A (EXP,ISO)

decabromodiphenyl ether (EXP)

Dibutyl phosphate (EXP)

diclofenac (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

ethyl methanesulfonate (EXP)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

furfural (EXP)

gentamycin (ISO)

hydrogen peroxide (ISO)

indometacin (EXP)

ivermectin (EXP)

leflunomide (EXP)

methidathion (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

miconazole (ISO)

oxaliplatin (ISO)

paracetamol (EXP,ISO)

phenylmercury acetate (EXP)

phenytoin (ISO)

piroxicam (EXP)

propiconazole (ISO)

resveratrol (ISO)

SB 431542 (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sodium chloride (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

triphenyl phosphate (EXP,ISO)

triptonide (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway (IDA)

mRNA 3'-end processing (IDA)

mRNA alternative polyadenylation (IBA,IMP)

mRNA processing (IDA,IEA)

positive regulation of RNA export from nucleus (IMP)

protein heterotetramerization (IDA)

protein tetramerization (IDA)

Cellular Component

cytoplasm (IDA,IEA)

interchromatin granule (IDA)

membrane (HDA)

mRNA cleavage and polyadenylation specificity factor complex (IBA,IDA)

mRNA cleavage factor complex (IDA,IPI)

nuclear speck (IDA,IEA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IDA,IEA)

paraspeckles (IDA)

perichromatin fibrils (IDA)

ribonucleoprotein complex (IDA)

Molecular Function

exon-exon junction complex binding (IDA)

mRNA binding (IBA,IDA)

nucleic acid binding (IEA)

protein binding (IPI)

ribosomal large subunit binding (IDA)

RNA binding (HDA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

3'-end pre-mRNA processing pathway (TAS)

mRNA decay pathway (IEA)

RNA polymerase II transcription termination pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Pre-mRNA 3'-end processing complex assembly and function.	Chan S, etal., Wiley Interdiscip Rev RNA. 2011 May-Jun;2(3):321-35. doi: 10.1002/wrna.54. Epub 2010 Oct 18.
2.	Means to an end: mechanisms of alternative polyadenylation of messenger RNA precursors.	Gruber AR, etal., Wiley Interdiscip Rev RNA. 2014 Mar-Apr;5(2):183-96. doi: 10.1002/wrna.1206. Epub 2013 Nov 14.
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:8626397	PMID:9659921	PMID:11060040	PMID:12477932	PMID:14561889	PMID:14690600	PMID:14702039	PMID:15169763	PMID:15489334	PMID:15937220	PMID:16055720
PMID:16189514	PMID:16344560	PMID:16713569	PMID:17024186	PMID:17172643	PMID:17267687	PMID:17342744	PMID:17353931	PMID:18029348	PMID:18391951	PMID:18809582	PMID:19447967
PMID:19738201	PMID:19864460	PMID:19946888	PMID:20085233	PMID:20227665	PMID:20467437	PMID:20695905	PMID:21145461	PMID:21295486	PMID:21483454	PMID:21822216	PMID:21873635
PMID:21994675	PMID:22113938	PMID:22174317	PMID:22301135	PMID:22301145	PMID:22323290	PMID:22412018	PMID:22446626	PMID:22558309	PMID:22658674	PMID:22681889	PMID:22813749
PMID:22939629	PMID:22956906	PMID:22960638	PMID:22990118	PMID:23184937	PMID:23187700	PMID:23414560	PMID:23463506	PMID:23602568	PMID:23622145	PMID:23658440	PMID:23885082
PMID:24051001	PMID:24196705	PMID:24196714	PMID:24330569	PMID:24415937	PMID:24457600	PMID:24525292	PMID:24550385	PMID:24559861	PMID:24711643	PMID:24778252	PMID:24782340
PMID:24981860	PMID:24986923	PMID:25036886	PMID:25123063	PMID:25192599	PMID:25320302	PMID:25356722	PMID:25416956	PMID:25496772	PMID:25517934	PMID:25518861	PMID:25544563
PMID:25731773	PMID:25774576	PMID:25798074	PMID:25921289	PMID:26109731	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26508657	PMID:26549023	PMID:26586435	PMID:26641092
PMID:26673895	PMID:26777405	PMID:26858452	PMID:26885983	PMID:26994143	PMID:27025967	PMID:27107014	PMID:27107820	PMID:27173435	PMID:27307565	PMID:27327622	PMID:27528751
PMID:27545878	PMID:27609421	PMID:27634302	PMID:27684187	PMID:28077445	PMID:28186131	PMID:28225217	PMID:28302793	PMID:28431233	PMID:28514442	PMID:28515276	PMID:28524877
PMID:28533407	PMID:28673861	PMID:28986522	PMID:29044188	PMID:29128334	PMID:29276085	PMID:29331416	PMID:29395067	PMID:29507755	PMID:29509190	PMID:29568099	PMID:29643241
PMID:29656893	PMID:29802200	PMID:30021884	PMID:30173955	PMID:30209976	PMID:30320910	PMID:30355695	PMID:30463901	PMID:30472188	PMID:30575818	PMID:30585729	PMID:30672737
PMID:30884312	PMID:30890647	PMID:30916345	PMID:30940648	PMID:30948266	PMID:31048545	PMID:31071616	PMID:31076518	PMID:31253590	PMID:31280863	PMID:31353912	PMID:31465518
PMID:31477156	PMID:31527615	PMID:31586073	PMID:31623628	PMID:31666379	PMID:31690677	PMID:31941344	PMID:32239614	PMID:32295865	PMID:32296183	PMID:32344865	PMID:32382008
PMID:32433965	PMID:32460013	PMID:32538781	PMID:32600399	PMID:32687490	PMID:32707033	PMID:32807901	PMID:32877691	PMID:32908313	PMID:32971831	PMID:32994395	PMID:33022573
PMID:33306668	PMID:33397691	PMID:33640491	PMID:33648552	PMID:33742100	PMID:33758083	PMID:33916271	PMID:33949310	PMID:33961781	PMID:34079125	PMID:34154414	PMID:34159380
PMID:34185411	PMID:34189442	PMID:34217312	PMID:34373451	PMID:34597346	PMID:34650049	PMID:34662580	PMID:34728620	PMID:34901782	PMID:35013218	PMID:35013556	PMID:35066290
PMID:35177536	PMID:35194031	PMID:35198878	PMID:35256949	PMID:35271311	PMID:35338135	PMID:35446349	PMID:35509820	PMID:35652658	PMID:35776542	PMID:35831314	PMID:35844135
PMID:35906200	PMID:35944360	PMID:35987950	PMID:36114006	PMID:36168627	PMID:36215168	PMID:36244648	PMID:36261009	PMID:36266428	PMID:36373674	PMID:36424410	PMID:36446361
PMID:36526897	PMID:36574265	PMID:36774506	PMID:37379316	PMID:37414787	PMID:37506885	PMID:37777964	PMID:37827155	PMID:38113892	PMID:38223760	PMID:38360978	PMID:38416782
PMID:38697112	PMID:38793552	PMID:39147351	PMID:39250314	PMID:39251607	PMID:39358380	PMID:39522233

Genomics

Comparative Map Data

CPSF6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	69,239,569 - 69,274,358 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	69,239,569 - 69,274,358 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	69,633,349 - 69,668,138 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	67,919,667 - 67,951,290 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	67,919,666 - 67,951,290	NCBI
Celera	12	69,297,148 - 69,331,977 (+)	NCBI		Celera
Cytogenetic Map	12	q15	NCBI
HuRef	12	66,694,597 - 66,717,839 (+)	NCBI		HuRef
CHM1_1	12	69,601,666 - 69,636,525 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	69,218,652 - 69,253,462 (+)	NCBI		T2T-CHM13v2.0

Cpsf6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	117,180,572 - 117,212,903 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	117,180,578 - 117,215,920 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	117,344,667 - 117,376,998 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	117,344,673 - 117,380,015 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	116,781,724 - 116,814,029 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	116,752,317 - 116,781,059 (-)	NCBI		MGSCv36	mm8
Celera	10	119,287,703 - 119,311,036 (-)	NCBI		Celera
Cytogenetic Map	10	D2	NCBI
cM Map	10	65.41	NCBI

Cpsf6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	54,798,452 - 54,887,711 (-)	NCBI		GRCr8
mRatBN7.2	7	52,956,589 - 53,001,783 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	52,956,589 - 52,988,122 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	54,863,307 - 54,894,827 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	57,066,409 - 57,097,929 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	56,844,294 - 56,875,817 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	60,385,688 - 60,417,661 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	60,385,688 - 60,416,925 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	60,387,688 - 60,432,254 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	56,658,291 - 56,689,892 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	56,684,035 - 56,711,179 (-)	NCBI
Celera	7	49,730,420 - 49,761,230 (-)	NCBI		Celera
Cytogenetic Map	7	q22	NCBI

Cpsf6
(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_004955458	15,677,645 - 15,708,011 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	15,684,040 - 15,708,011 (+)	NCBI	ChiLan1.0	ChiLan1.0

CPSF6
(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	10	77,253,688 - 77,286,086 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	77,251,962 - 77,286,894 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	66,750,301 - 66,785,104 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	69,537,904 - 69,562,570 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	69,535,302 - 69,550,789 (+)	Ensembl	panpan1.1		panPan2

CPSF6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	11,265,044 - 11,297,395 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	11,262,265 - 11,292,832 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	11,192,974 - 11,229,102 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	11,384,373 - 11,420,547 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	11,387,159 - 11,420,524 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	11,251,450 - 11,287,708 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	11,498,596 - 11,534,738 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	11,620,546 - 11,656,791 (+)	NCBI		UU_Cfam_GSD_1.0

Cpsf6
(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_024404945	47,032,412 - 47,064,888 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936545	7,045,043 - 7,077,736 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936545	7,045,043 - 7,077,710 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CPSF6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	33,525,689 - 33,555,226 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	33,525,668 - 33,559,941 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	36,157,912 - 36,194,879 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CPSF6
(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	11	64,859,701 - 64,894,144 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	64,859,718 - 64,882,269 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	180,805,605 - 180,840,076 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cpsf6
(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_004624948	56,246 - 84,051 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624948	53,317 - 83,983 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CPSF6
27 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	copy number loss	See cases [RCV000135587]	Chr12:68011417..75383054 [GRCh38] Chr12:68405197..75776834 [GRCh37] Chr12:66691464..74063101 [NCBI36] Chr12:12q15-21.2	likely pathogenic\|uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	copy number loss	See cases [RCV000142445]	Chr12:65445176..71026337 [GRCh38] Chr12:65838956..71420117 [GRCh37] Chr12:64125223..69706384 [NCBI36] Chr12:12q14.3-15	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1	copy number loss	See cases [RCV000447164]	Chr12:59495114..70574966 [GRCh37] Chr12:12q14.1-15	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1	copy number loss	not provided [RCV000737927]	Chr12:69608090..89629345 [GRCh37] Chr12:12q15-21.33	pathogenic
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	copy number loss	not provided [RCV001537907]	Chr12:65251705..75263379 [GRCh37] Chr12:12q14.3-21.1	pathogenic
GRCh37/hg19 12q15(chr12:68572386-70833868)x1	copy number loss	not provided [RCV001259617]	Chr12:68572386..70833868 [GRCh37] Chr12:12q15	pathogenic
NM_007007.3(CPSF6):c.814C>T (p.Arg272Cys)	single nucleotide variant	not specified [RCV004325239]	Chr12:69258709 [GRCh38] Chr12:69652489 [GRCh37] Chr12:12q15	uncertain significance
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	copy number loss	not provided [RCV002511748]	Chr12:64609458..70352103 [GRCh37] Chr12:12q14.2-15	pathogenic
NM_007007.3(CPSF6):c.1147C>G (p.Pro383Ala)	single nucleotide variant	not specified [RCV004244322]	Chr12:69259042 [GRCh38] Chr12:69652822 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.301G>A (p.Val101Ile)	single nucleotide variant	not specified [RCV004127079]	Chr12:69253081 [GRCh38] Chr12:69646861 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.679C>G (p.Pro227Ala)	single nucleotide variant	not specified [RCV004074593]	Chr12:69257890 [GRCh38] Chr12:69651670 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.1623G>C (p.Glu541Asp)	single nucleotide variant	not specified [RCV004187542]	Chr12:69262526 [GRCh38] Chr12:69656306 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.617G>A (p.Arg206His)	single nucleotide variant	not specified [RCV004134089]	Chr12:69257828 [GRCh38] Chr12:69651608 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.977G>A (p.Arg326His)	single nucleotide variant	not specified [RCV004101952]	Chr12:69258872 [GRCh38] Chr12:69652652 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.916C>G (p.Pro306Ala)	single nucleotide variant	not specified [RCV004148073]	Chr12:69258811 [GRCh38] Chr12:69652591 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.1554C>A (p.Asp518Glu)	single nucleotide variant	not specified [RCV004185183]	Chr12:69262457 [GRCh38] Chr12:69656237 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.965C>T (p.Pro322Leu)	single nucleotide variant	not specified [RCV004124433]	Chr12:69258860 [GRCh38] Chr12:69652640 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.352C>T (p.Arg118Trp)	single nucleotide variant	not specified [RCV004121002]	Chr12:69253132 [GRCh38] Chr12:69646912 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.111A>G (p.Ile37Met)	single nucleotide variant	not specified [RCV004268265]	Chr12:69251179 [GRCh38] Chr12:69644959 [GRCh37] Chr12:12q15	uncertain significance
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	copy number loss	not provided [RCV003483154]	Chr12:61755618..70035424 [GRCh37] Chr12:12q14.1-15	pathogenic
GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	copy number loss	not specified [RCV003986991]	Chr12:69498859..74073631 [GRCh37] Chr12:12q15-21.1	likely pathogenic
NM_007007.3(CPSF6):c.1196G>A (p.Gly399Glu)	single nucleotide variant	not specified [RCV004374673]	Chr12:69259091 [GRCh38] Chr12:69652871 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.1408A>G (p.Ile470Val)	single nucleotide variant	not specified [RCV004374674]	Chr12:69260136 [GRCh38] Chr12:69653916 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.1636C>T (p.Arg546Cys)	single nucleotide variant	not specified [RCV004374675]	Chr12:69262539 [GRCh38] Chr12:69656319 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.466G>A (p.Val156Ile)	single nucleotide variant	not specified [RCV004374676]	Chr12:69256788 [GRCh38] Chr12:69650568 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.637G>A (p.Gly213Ser)	single nucleotide variant	not specified [RCV004374677]	Chr12:69257848 [GRCh38] Chr12:69651628 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.685C>T (p.Pro229Ser)	single nucleotide variant	not specified [RCV004374678]	Chr12:69257896 [GRCh38] Chr12:69651676 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.862C>T (p.Pro288Ser)	single nucleotide variant	not specified [RCV004374679]	Chr12:69258757 [GRCh38] Chr12:69652537 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.986G>C (p.Gly329Ala)	single nucleotide variant	not specified [RCV004374680]	Chr12:69258881 [GRCh38] Chr12:69652661 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.56A>G (p.Asn19Ser)	single nucleotide variant	not specified [RCV004912746]	Chr12:69239702 [GRCh38] Chr12:69633482 [GRCh37] Chr12:12q15	uncertain significance
NM_007007.3(CPSF6):c.702G>C (p.Gln234His)	single nucleotide variant	not specified [RCV004912748]	Chr12:69258597 [GRCh38] Chr12:69652377 [GRCh37] Chr12:12q15	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2534
Count of miRNA genes:	1014
Interacting mature miRNAs:	1242
Transcripts:	ENST00000266679, ENST00000435070, ENST00000456847, ENST00000547486, ENST00000550075, ENST00000550987, ENST00000551516
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597207034	GWAS1303108_H	Agents acting on the renin-angiotensin system use measurement QTL GWAS1303108 (human)		8e-12	Agents acting on the renin-angiotensin system use measurement		12	69245427	69245428	Human
597044020	GWAS1140094_H	smoking initiation QTL GWAS1140094 (human)		2e-10	smoking initiation		12	69261387	69261388	Human
597231738	GWAS1327812_H	smoking status measurement QTL GWAS1327812 (human)		2e-09	smoking status measurement		12	69261387	69261388	Human
597053778	GWAS1149852_H	smoking status measurement QTL GWAS1149852 (human)		1e-10	smoking status measurement		12	69261387	69261388	Human
597242493	GWAS1338567_H	smoking status measurement QTL GWAS1338567 (human)		3e-09	smoking status measurement		12	69261387	69261388	Human
597206256	GWAS1302330_H	Diuretic use measurement QTL GWAS1302330 (human)		1e-11	Diuretic use measurement		12	69248903	69248904	Human
597326512	GWAS1422586_H	pain QTL GWAS1422586 (human)		0.0000004	pain		12	69265519	69265520	Human
596961439	GWAS1080958_H	metabolic syndrome QTL GWAS1080958 (human)		5e-14	metabolic syndrome		12	69263365	69263366	Human
597058810	GWAS1154884_H	metabolic syndrome QTL GWAS1154884 (human)		5e-14	metabolic syndrome		12	69263365	69263366	Human
597335222	GWAS1431296_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1431296 (human)		7e-08	severe acute respiratory syndrome, COVID-19		12	69264550	69264551	Human
597326167	GWAS1422241_H	pain QTL GWAS1422241 (human)		7e-10	pain		12	69242534	69242535	Human
597114010	GWAS1210084_H	osteoarthritis QTL GWAS1210084 (human)		2e-08	osteoarthritis		12	69244067	69244068	Human
597184661	GWAS1280735_H	body mass index QTL GWAS1280735 (human)		8e-11	body mass index	body mass index (BMI) (CMO:0000105)	12	69248535	69248536	Human
597241428	GWAS1337502_H	smoking status measurement QTL GWAS1337502 (human)		1e-08	smoking status measurement		12	69261387	69261388	Human
597136602	GWAS1232676_H	smoking initiation QTL GWAS1232676 (human)		1e-19	smoking initiation		12	69261387	69261388	Human
597292744	GWAS1388818_H	body mass index QTL GWAS1388818 (human)		3e-10	body mass index	body mass index (BMI) (CMO:0000105)	12	69248535	69248536	Human
597146662	GWAS1242736_H	smoking initiation QTL GWAS1242736 (human)		9e-23	smoking initiation		12	69263365	69263366	Human
597146661	GWAS1242735_H	smoking initiation QTL GWAS1242735 (human)		4e-23	smoking initiation		12	69252230	69252231	Human
597322220	GWAS1418294_H	lysozyme C measurement QTL GWAS1418294 (human)		1e-14	lysozyme C measurement		12	69261387	69261388	Human
597524676	GWAS1620750_H	smoking initiation QTL GWAS1620750 (human)		6e-23	smoking initiation		12	69252084	69252085	Human
597399169	GWAS1495243_H	Agents acting on the renin-angiotensin system use measurement QTL GWAS1495243 (human)		4e-09	Agents acting on the renin-angiotensin system use measurement		12	69252084	69252085	Human
597231011	GWAS1327085_H	smoking status measurement QTL GWAS1327085 (human)		2e-11	smoking status measurement		12	69261387	69261388	Human
596964584	GWAS1084103_H	body mass index QTL GWAS1084103 (human)		3e-10	body mass index		12	69248535	69248536	Human
597427747	GWAS1523821_H	urate measurement QTL GWAS1523821 (human)		1e-08	urate measurement	blood uric acid level (CMO:0000501)	12	69248903	69248904	Human

Markers in Region

RH47194

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,666,369 - 69,666,528	UniSTS	GRCh37
Build 36	12	67,952,636 - 67,952,795	RGD	NCBI36
Celera	12	69,330,205 - 69,330,364	RGD
Cytogenetic Map	12	q15	UniSTS
HuRef	12	66,716,068 - 66,716,227	UniSTS
GeneMap99-GB4 RH Map	12	291.71	UniSTS
NCBI RH Map	12	510.0	UniSTS

RH70871

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,664,178 - 69,664,395	UniSTS	GRCh37
Build 36	12	67,950,445 - 67,950,662	RGD	NCBI36
Celera	12	69,328,014 - 69,328,231	RGD
Cytogenetic Map	12	q15	UniSTS
HuRef	12	66,713,875 - 66,714,092	UniSTS

D12S1161E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,643,596 - 69,643,681	UniSTS	GRCh37
Build 36	12	67,929,863 - 67,929,948	RGD	NCBI36
Celera	12	69,307,429 - 69,307,514	RGD
Cytogenetic Map	12	q15	UniSTS
HuRef	12	66,693,292 - 66,693,377	UniSTS

D12S1495

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,650,142 - 69,650,243	UniSTS	GRCh37
Build 36	12	67,936,409 - 67,936,510	RGD	NCBI36
Celera	12	69,313,978 - 69,314,079	RGD
Cytogenetic Map	12	q15	UniSTS
HuRef	12	66,699,838 - 66,699,939	UniSTS

SHGC-111490

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,639,953 - 69,640,265	UniSTS	GRCh37
Build 36	12	67,926,220 - 67,926,532	RGD	NCBI36
Celera	12	69,303,786 - 69,304,098	RGD
Cytogenetic Map	12	q15	UniSTS
HuRef	12	66,689,659 - 66,689,971	UniSTS
TNG Radiation Hybrid Map	12	33150.0	UniSTS

WI-19247

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,664,291 - 69,664,578	UniSTS	GRCh37
Build 36	12	67,950,558 - 67,950,845	RGD	NCBI36
Celera	12	69,328,127 - 69,328,414	RGD
Cytogenetic Map	12	q15	UniSTS
HuRef	12	66,713,988 - 66,714,275	UniSTS
GeneMap99-GB4 RH Map	12	293.44	UniSTS
Whitehead-RH Map	12	393.5	UniSTS

CPSF6_4630

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	69,664,264 - 69,665,065	UniSTS	GRCh37
Build 36	12	67,950,531 - 67,951,332	RGD	NCBI36
Celera	12	69,328,100 - 69,328,901	RGD
HuRef	12	66,713,961 - 66,714,762	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001300947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_007007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005268588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005268590	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370844	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC020656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021534	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW189370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA365448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF583887	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X67337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000266679 ⟹ ENSP00000266679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,616 - 69,269,939 (+)	Ensembl

Ensembl Acc Id:

ENST00000435070 ⟹ ENSP00000391774

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,569 - 69,274,358 (+)	Ensembl

Ensembl Acc Id:

ENST00000456847 ⟹ ENSP00000391437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,600 - 69,269,939 (+)	Ensembl

Ensembl Acc Id:

ENST00000547486

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,251,175 - 69,258,189 (+)	Ensembl

Ensembl Acc Id:

ENST00000550075 ⟹ ENSP00000446670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,572 - 69,253,114 (+)	Ensembl

Ensembl Acc Id:

ENST00000550987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,620 - 69,255,160 (+)	Ensembl

Ensembl Acc Id:

ENST00000551516 ⟹ ENSP00000450206

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,642 - 69,269,573 (+)	Ensembl

Ensembl Acc Id:

ENST00000650046 ⟹ ENSP00000497420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	69,239,600 - 69,274,168 (+)	Ensembl

RefSeq Acc Id:

NM_001300947 ⟹ NP_001287876

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	69,239,569 - 69,274,358 (+)	NCBI
CHM1_1	12	69,601,666 - 69,636,525 (+)	NCBI
T2T-CHM13v2.0	12	69,218,652 - 69,253,462 (+)	NCBI

Sequence:

show sequence

GCTAGATCCGCTGCTGCTGCCGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGCC
GAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCGGCGAAGA
GTTCAACCAGGAAGCTGAATATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATCT
CCATCTGCAAATAATGGAGATGCCCCAGAAGACCGAGATTACATGGATACTCTCCCACCAACTG
TTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATACATATACTGGAAAGAGAAT
TGCATTATATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCAT
TCTTTGGGAGTAAATGATATTTTGGAGATAAAATTTTTTGAAAATCGGGCAAATGGCCAGTCAA
AGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAGCATCTTCAAAAAAGTTAATGGATCTGTTACC
TAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGAGTCAA
TTTGAAATGCAGTCCAGGAAAACTACACAATCAGGACAAATGTCTGGGGAAGGTAAAGCTGGTC
CTCCAGGAGGCAGTTCCCGTGCAGCATTTCCACAAGGTGGTAGAGGACGGGGCCGTTTTCCAGG
GGCTGTTCCTGGTGGGGACAGATTTCCTGGGCCAGCAGGACCAGGAGGGCCACCCCCACCTTTT
CCAGGAAATTTGATCAAGCATCTTGTTAAAGGAACTCGGCCTTTGTTCCTGGAAACTAGGATTC
CATGGCATATGGGGCACAGCATAGAGGAAATACCCATTTTTGGCCTAAAAGCTGGACAGACTCC
ACCACGTCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAGGTCCTCCACCTCCTGGTCAG
GTTCTGCCTCCTCCTCTAGCTGGGCCTCCTAATCGAGGAGATCGCCCTCCACCACCAGTTCTTT
TTCCTGGACAACCTTTTGGGCAGCCTCCATTGGGTCCACTTCCTCCTGGCCCTCCACCTCCAGT
TCCAGGCTACGGCCCCCCTCCTGGCCCACCACCTCCACAACAGGGACCACCTCCACCTCCAGGC
CCCTTTCCACCTCGTCCACCCGGTCCACTTGGGCCACCCCTTACACTAGCTCCTCCTCCGCATC
TTCCTGGACCACCTCCAGGTGCCCCACCGCCAGCTCCGCATGTGAACCCAGCTTTCTTTCCTCC
ACCAACTAACAGTGGCATGCCTACATCAGATAGCCGAGGTCCACCACCAACAGATCCATATGGG
CGACCTCCACCATATGATAGGGGTGACTATGGCCCCCCTGGAAGGGAAATGGATACTGCAAGAA
CGCCATTGAGTGAAGCTGAATTTGAAGAAATCATGAATAGAAATAGGGCAATCTCAAGCAGTGC
TATTTCGAGAGCTGTGTCTGATGCCAGTGCTGGTGATTATGGGAGTGCTATTGAGACACTGGTA
ACTGCAATTTCTTTAATTAAACAATCCAAAGTATCTGCTGATGATCGTTGCAAAGTTCTTATTA
GTTCTTTGCAAGATTGCCTTCATGGAATTGAGTCCAAGTCTTATGGTTCTGGATCAAGACGTGA
ACGATCAAGAGAGAGGGACCATAGTAGATCACGAGAAAAGAGTCGACGTCATAAATCCCGTAGT
AGAGACCGTCATGACGATTATTACAGAGAGAGAAGCAGAGAACGAGAGAGGCACCGGGATCGTG
ACCGAGACCGTGACCGAGAGCGTGACCGAGAGCGCGAATATCGTCATCGTTAGAAGCTGAAGGA
AGAGGATCACCTTCCAAGACAAAACAGTCTTCATGGGGGAAAAATGACGCTTGTCCAGCAGTTT
GCTTCTTGTGATTGAACTGAACCTGTAAGGATTCATGGATAAAATGAACAGGAATAGATCTGAA
TAAAGCAAATCTGCATAAATGGTAACCAGTAGCTCTACTTTTATTTTTTATGTTGCTTAACTGT
TTTATTTGAAGGAAACCTGTGTGATTTAAAAAGTTATAGCTTTTGCAACTTTATTACTGGTTAT
ATACATTTGGCCATTATGATGTGCAAGCAATTGGAAAAAAAGTCAAGTAAATGCTTGTTTTTGT
AGTAGTTTGTTCTTGTTAAAAATGTTTATATGATAATGTCTGTAAACAGCATCACTTTGATTAC
AATAGATGTAGTGTTGTAATAAACTGTTTAATGGGGCTGATGTGTAAAGCTGTTCAAGTTATTT
GATGTTTACACCTCAGGGAAAGTCTTGTGTTCAGCAATATCTAAAGATAATGTTACTATGACAA
CATTTTTACTGTCCTTTAAAGCATTGCAATAGCGTTTTTGGATATGCCTCAATCTAATCTTGCG
TTCAGTGAATTAAACATAGTAATTAAGTGTCTTTTGCCCTTGATTTTGATATTAGAATAGGTGA
TTACATGGATATTTAATATTTCTATATTCTGCTTTTCTAGCTGTTTTTACCTAGTTAGCTTGTG
ACTTTGCTGAATGGTATGTAAACTTGTAAAAATAGAGATTTGACAGACATAGCAATCTAGTCAA
TGTGTAAGGGGTCAAAAAAACAGAGGTTTTAACACATAAGTAAAAACCCGTACATATTTGATGT
GTAATGCAGGTTAATTACAACACAGATGTACCGAAACACTTAATTGTGAACCGCTAACATTGAA
GAAATTTTGACAATTCCGATTTGATGCTGCAATTACTTGCTGTTTTTATTGATCTTATGGTTTA
TTTCTTAAGCCATAGTCAGTGTAAATACAGCCCTGCAGCAGGTAAATGTGAGTAAAGAGAGCCT
TATATTTTCCAATTGGTATAAATTTTTGAAGGATGTGATGTTCATTAACATTCGGTTGTATTCC
CCAGTATTTGTAATGGGAAATTACAGATAAACCGTGTCTGCACAGTTTAAGGAATACTATGTAT
ATTCATGCACCGTATTGATTCATGCTATAGTTACTTAATCAAAGATTTTTTTCAAACCTGCCTT
ACATATAGGCCCACTTTAAAAGCACCTGACTAGCATGTGTTCTTGATTGCAAAATTGGCAGAGG
CAGGGTGTCAACTTGATTAGGTGTTTTTATGGGAATGTAATTTGAAATCACTACTTCAGAAATT
TGACTTAAAATTCTTGAGCACGTTAATATGTTTTTAAGATCTGATTATCTTTGAGAGATCTTCT
GTTAATACACATTGGTTGTTAAAGAGTACCCAAATTCTAGGACAATGCTTAAAGTGTTAAAATA
CCCTAGATACTGTGTTATGTGCAACTGTAGAAACCCTCCAGAAATTTCCACTGCTGTTCTTCAC
TTTCATCTTGTCTGCTATCAAACCACTTCTGACAAAATTAGCTGTTTTGAATTACCCATATCAC
TGCCAGTTTTATTTTAAAATATTTTGTGTTTGAAGTATCTGTGCATGGGATCGTTGATGTTTAT
CAGAACTGTTCACTTTCAGAAATGATTTTTTAAAGCATTTTGTTGAAAATGCGGTTGCTTTTTT
AACATTATTTTAGAGTTGTATCAAAATTTTCCTGTTTTCTGTATATTGTTGTGTCATTTCTTGG
CTTTTTAATATTTTGACTACAATGCCCTAATGCGAAGAAGTATGGACATATAAATATTACAAGA
GAAATTAGTTAATAGTAAAGGGTTAAAAGGTAAGTAAAATGTCCATGAAAATAAAATTTTCTTT
GAACAGTTTAAAAATGGAATCACAAAAATCTAACTGCACTTGAAATGAAACTGGAAATTTTATA
CTAATTAAATCCTTTATTTACCTTTTCATATTTTATCAATGGAACCTTTTAATTGCTCCTTCTA
TATCACTCTTCTCCTTGCTTGGCTGATCTCATTACATGACTTTCGTTACAGACAGTGTGAGTGT
ACTAGATTTGTTTGCTGCTAATCCGTTATTTTAAGTGTTGTCAGAAGGAAATAACTTCTTGGTT
TGACCAAGTAATTTTGCAAAGTCCTTCTCTACCTGATAACACGTGAATGTATAGCAGTAAAGGT
GAAAATTGCAGGCCTTGTTTTGTTCTTCATACCCCCTTCAGTTGTTTATGGGTTAATGTTATTT
GAAAACTCTTCCTTTTTTTAATGTGTAAAAACAATCCAAAGAGATAAATCCTTGCATAGACACC
AAAAACAGTGTCTCAGAGACCTTTTCATTTTTTCCTTAGTTAATAACTGTAGTGGATGTGAAAA
CAAACGAGTTGAATTTTAAAACATAGCATTTATTAGTGCTATACAGTCACATTCCTTTCAGCCA
GTAGTAAAGTTAAACAGATGAGTGATACAGTACCTGAATGGTACTGCTTCTGAGGCAACACTTT
GGATTGAAAGTGCTGCTTTTGGTTAAAGGAACTATGTTGTGGAAAGCATATTCCAGTGTAAATT
TGCAGATGTGTGTTTTTTTTTTTTGTCACTTTTCATAAGGTTTGGAGTAAGTTGCAGTGGCTTT
TGATCATAGTTTAGCCCATTTAATGGTCCTTTTACCTAGAATGTTCTTAAGCAGTTAATGACAA
TTTGGAATACACAGATAACTTGTAGCTTAAGATACTATTTTCATTTAATTCTCCTGTGGAGAAT
ATTGCTTTATTTTTTACTAGTTTCAGGTCAGTTATTAAAATAAACATGGAGGTTTTAATGAATG
TTGTATAATATTTTATAGTGAAGGAAAATTGTGGAAAGGGCAAAGACTTTCTCTTTCCCTTATG
TATTTAACTGTGCCAATCTAAATACATACTGTTTTATACAATGAGATGCATTACAAGACTTTTC
TGTTGGAGTGCTCTCGACATTTTGGTTTTCATACCTGAATGATCATTGCATTTTCTGTATTTTC
TAAAATGGCTCCAATTTTGTGTTTTAAGCTTCAGCTTAAGAGGAAGTTTATGTTCTAATTCTTG
ACTGAGAATACAGTATTGAGATTCTCTGTTTTACAGATAACAACTGGTTTTTATTACTCATTAA
GTTCATTTGCATCCCGTAGCCCTCTGTAAATGTTTCCCCTAGTTGTATGTACGTAAATGCACGC
TTATCCAGTGTATATTAGACATTTTTGTGCTAAAATATATTAAGTGGGATTTTTGTAGCAAAGC
ATTCTATTTTTCTGTTCTTACAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCGTTTTTTTAA
CCTTAACTTCAGTTTAAACACTGGTGTATTTATTTTTTTAAGCAACTTGACTCTTAGAAGCCTT
AGACTGATTTTTTCAATAAATATTCAACCAAAAATTATAAATTTATTAAGATGTGGCCTTACAT
ATGGCATTCCTTGTGTTCGTAATGTGAGATTTTTGATTTAGATAAATCAAGATTCAGGATTAAA
GTTTCATTGTAAGTTGAAATAGAAAATGTATTAAAATGTCTAGGCTTCTGGGAGGAAGTTCTTA
TACTCTTCTTTCTTGGCATTAGAAAGAAGCAATATGAATTTTTGTGAATATTCTAAATATTCAG
GCAACACTGTTCAGATTGATTTAGGTTTGTCTTAACCAATGTTCTTTTTTTAGAATTTCAGGTT
GTGGCATTCACTGAGTATGCAGCTACTATGGTTTTTGTATGGGACGTATAAATACTTGATTATA
TACGACAGATTTTAATGTCTTTAAAGACTTCCTGCTGTATTAACATATTGTAATGGAGTCTTTT
AAATACTAGGTTGAATTTAATTGAAGTCACACACATCTTGAAGTGGTAACTGCATAGTAAATAC
TACCAAGAGTTTTTTTCACGTGGGAGTATCCTAAAACTCTGCCATGGGTGTAAATGTTTTACAT
TAATTTCATAATTGGACAGACCCTGCATTTAGCGAAAACATTTTGTTTTGAAAGTGTGTTCTTT
TTGTCGCACTGTTACTGCGTAACACTTCTCAACATTCTGTAAGTTAAATTATTTTAAAATAACT
ATGGTGAATTCATGTTTATTTTTTTACTTTGAAAATTGTAGTACTCAGGTGGTATTTAATGGGA
AAGGATCCTTTGGGTATAAATCATAATGTATTTTAAGGAATGCATCTATAACATTGATAACTTT
AGCCTTAAAAAAAAGGTCTATTATTCCTTCCTCTGCATCCCATGGTATATTAGCAAAGTAGTTT
ACAGCCCTGTACAGCCTTACAAAGTTGTTTTACAATTTTTAATGGAAAGCCCTTAACAACAACA
ACAAAAAATTGTATCATTTTACCAATATCCACGAATTACTGATCACAGTTTGTAAATAATTTGT
TTAATATCAGAAGGCCAAAGAAAGTCTTAAAATTTTAGCTATTGACTCTATGGTGACTTCACAA
TAAGATTTCTGTGCAAAAAGGTAAGGTGATAATTGATCTAATAGACTTTTTTTTTTTTTTTTTT
GCTGTCCATGAGAATTAGACTTCATATTAGCTTCAATTAAAAAGCTCATTCCATTTTATTAAAA
TGTTTGTAATTGCAATTTTGTGTTTAATGTTTACTTTGTCTTTCCTTTCTTTAGCATTTAGGTG
ACTGTTCGGCAGTTTGATATATGGCCATTGTCGGCCTTAAACTGCACTAGTAACAAGCATGGTA
TTTATCTTGTATTGAAAATAAAACAAACTTTTGATAAGA

hide sequence

RefSeq Acc Id:

NM_007007 ⟹ NP_008938

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	69,239,569 - 69,274,358 (+)	NCBI
GRCh37	12	69,633,317 - 69,668,138 (+)	ENTREZGENE
Build 36	12	67,919,667 - 67,951,290 (+)	NCBI Archive
HuRef	12	66,694,597 - 66,717,839 (+)	ENTREZGENE
CHM1_1	12	69,601,666 - 69,636,525 (+)	NCBI
T2T-CHM13v2.0	12	69,218,652 - 69,253,462 (+)	NCBI

Sequence:

show sequence

GCTAGATCCGCTGCTGCTGCCGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGCC
GAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCGGCGAAGA
GTTCAACCAGGAAGCTGAATATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATCT
CCATCTGCAAATAATGGAGATGCCCCAGAAGACCGAGATTACATGGATACTCTCCCACCAACTG
TTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATACATATACTGGAAAGAGAAT
TGCATTATATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCAT
TCTTTGGGAGTAAATGATATTTTGGAGATAAAATTTTTTGAAAATCGGGCAAATGGCCAGTCAA
AGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAGCATCTTCAAAAAAGTTAATGGATCTGTTACC
TAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGAGTCAA
TTTGAAATGCAGTCCAGGAAAACTACACAATCAGGACAAATGTCTGGGGAAGGTAAAGCTGGTC
CTCCAGGAGGCAGTTCCCGTGCAGCATTTCCACAAGGTGGTAGAGGACGGGGCCGTTTTCCAGG
GGCTGTTCCTGGTGGGGACAGATTTCCTGGGCCAGCAGGACCAGGAGGGCCACCCCCACCTTTT
CCAGCTGGACAGACTCCACCACGTCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAGGTC
CTCCACCTCCTGGTCAGGTTCTGCCTCCTCCTCTAGCTGGGCCTCCTAATCGAGGAGATCGCCC
TCCACCACCAGTTCTTTTTCCTGGACAACCTTTTGGGCAGCCTCCATTGGGTCCACTTCCTCCT
GGCCCTCCACCTCCAGTTCCAGGCTACGGCCCCCCTCCTGGCCCACCACCTCCACAACAGGGAC
CACCTCCACCTCCAGGCCCCTTTCCACCTCGTCCACCCGGTCCACTTGGGCCACCCCTTACACT
AGCTCCTCCTCCGCATCTTCCTGGACCACCTCCAGGTGCCCCACCGCCAGCTCCGCATGTGAAC
CCAGCTTTCTTTCCTCCACCAACTAACAGTGGCATGCCTACATCAGATAGCCGAGGTCCACCAC
CAACAGATCCATATGGGCGACCTCCACCATATGATAGGGGTGACTATGGCCCCCCTGGAAGGGA
AATGGATACTGCAAGAACGCCATTGAGTGAAGCTGAATTTGAAGAAATCATGAATAGAAATAGG
GCAATCTCAAGCAGTGCTATTTCGAGAGCTGTGTCTGATGCCAGTGCTGGTGATTATGGGAGTG
CTATTGAGACACTGGTAACTGCAATTTCTTTAATTAAACAATCCAAAGTATCTGCTGATGATCG
TTGCAAAGTTCTTATTAGTTCTTTGCAAGATTGCCTTCATGGAATTGAGTCCAAGTCTTATGGT
TCTGGATCAAGACGTGAACGATCAAGAGAGAGGGACCATAGTAGATCACGAGAAAAGAGTCGAC
GTCATAAATCCCGTAGTAGAGACCGTCATGACGATTATTACAGAGAGAGAAGCAGAGAACGAGA
GAGGCACCGGGATCGTGACCGAGACCGTGACCGAGAGCGTGACCGAGAGCGCGAATATCGTCAT
CGTTAGAAGCTGAAGGAAGAGGATCACCTTCCAAGACAAAACAGTCTTCATGGGGGAAAAATGA
CGCTTGTCCAGCAGTTTGCTTCTTGTGATTGAACTGAACCTGTAAGGATTCATGGATAAAATGA
ACAGGAATAGATCTGAATAAAGCAAATCTGCATAAATGGTAACCAGTAGCTCTACTTTTATTTT
TTATGTTGCTTAACTGTTTTATTTGAAGGAAACCTGTGTGATTTAAAAAGTTATAGCTTTTGCA
ACTTTATTACTGGTTATATACATTTGGCCATTATGATGTGCAAGCAATTGGAAAAAAAGTCAAG
TAAATGCTTGTTTTTGTAGTAGTTTGTTCTTGTTAAAAATGTTTATATGATAATGTCTGTAAAC
AGCATCACTTTGATTACAATAGATGTAGTGTTGTAATAAACTGTTTAATGGGGCTGATGTGTAA
AGCTGTTCAAGTTATTTGATGTTTACACCTCAGGGAAAGTCTTGTGTTCAGCAATATCTAAAGA
TAATGTTACTATGACAACATTTTTACTGTCCTTTAAAGCATTGCAATAGCGTTTTTGGATATGC
CTCAATCTAATCTTGCGTTCAGTGAATTAAACATAGTAATTAAGTGTCTTTTGCCCTTGATTTT
GATATTAGAATAGGTGATTACATGGATATTTAATATTTCTATATTCTGCTTTTCTAGCTGTTTT
TACCTAGTTAGCTTGTGACTTTGCTGAATGGTATGTAAACTTGTAAAAATAGAGATTTGACAGA
CATAGCAATCTAGTCAATGTGTAAGGGGTCAAAAAAACAGAGGTTTTAACACATAAGTAAAAAC
CCGTACATATTTGATGTGTAATGCAGGTTAATTACAACACAGATGTACCGAAACACTTAATTGT
GAACCGCTAACATTGAAGAAATTTTGACAATTCCGATTTGATGCTGCAATTACTTGCTGTTTTT
ATTGATCTTATGGTTTATTTCTTAAGCCATAGTCAGTGTAAATACAGCCCTGCAGCAGGTAAAT
GTGAGTAAAGAGAGCCTTATATTTTCCAATTGGTATAAATTTTTGAAGGATGTGATGTTCATTA
ACATTCGGTTGTATTCCCCAGTATTTGTAATGGGAAATTACAGATAAACCGTGTCTGCACAGTT
TAAGGAATACTATGTATATTCATGCACCGTATTGATTCATGCTATAGTTACTTAATCAAAGATT
TTTTTCAAACCTGCCTTACATATAGGCCCACTTTAAAAGCACCTGACTAGCATGTGTTCTTGAT
TGCAAAATTGGCAGAGGCAGGGTGTCAACTTGATTAGGTGTTTTTATGGGAATGTAATTTGAAA
TCACTACTTCAGAAATTTGACTTAAAATTCTTGAGCACGTTAATATGTTTTTAAGATCTGATTA
TCTTTGAGAGATCTTCTGTTAATACACATTGGTTGTTAAAGAGTACCCAAATTCTAGGACAATG
CTTAAAGTGTTAAAATACCCTAGATACTGTGTTATGTGCAACTGTAGAAACCCTCCAGAAATTT
CCACTGCTGTTCTTCACTTTCATCTTGTCTGCTATCAAACCACTTCTGACAAAATTAGCTGTTT
TGAATTACCCATATCACTGCCAGTTTTATTTTAAAATATTTTGTGTTTGAAGTATCTGTGCATG
GGATCGTTGATGTTTATCAGAACTGTTCACTTTCAGAAATGATTTTTTAAAGCATTTTGTTGAA
AATGCGGTTGCTTTTTTAACATTATTTTAGAGTTGTATCAAAATTTTCCTGTTTTCTGTATATT
GTTGTGTCATTTCTTGGCTTTTTAATATTTTGACTACAATGCCCTAATGCGAAGAAGTATGGAC
ATATAAATATTACAAGAGAAATTAGTTAATAGTAAAGGGTTAAAAGGTAAGTAAAATGTCCATG
AAAATAAAATTTTCTTTGAACAGTTTAAAAATGGAATCACAAAAATCTAACTGCACTTGAAATG
AAACTGGAAATTTTATACTAATTAAATCCTTTATTTACCTTTTCATATTTTATCAATGGAACCT
TTTAATTGCTCCTTCTATATCACTCTTCTCCTTGCTTGGCTGATCTCATTACATGACTTTCGTT
ACAGACAGTGTGAGTGTACTAGATTTGTTTGCTGCTAATCCGTTATTTTAAGTGTTGTCAGAAG
GAAATAACTTCTTGGTTTGACCAAGTAATTTTGCAAAGTCCTTCTCTACCTGATAACACGTGAA
TGTATAGCAGTAAAGGTGAAAATTGCAGGCCTTGTTTTGTTCTTCATACCCCCTTCAGTTGTTT
ATGGGTTAATGTTATTTGAAAACTCTTCCTTTTTTTAATGTGTAAAAACAATCCAAAGAGATAA
ATCCTTGCATAGACACCAAAAACAGTGTCTCAGAGACCTTTTCATTTTTTCCTTAGTTAATAAC
TGTAGTGGATGTGAAAACAAACGAGTTGAATTTTAAAACATAGCATTTATTAGTGCTATACAGT
CACATTCCTTTCAGCCAGTAGTAAAGTTAAACAGATGAGTGATACAGTACCTGAATGGTACTGC
TTCTGAGGCAACACTTTGGATTGAAAGTGCTGCTTTTGGTTAAAGGAACTATGTTGTGGAAAGC
ATATTCCAGTGTAAATTTGCAGATGTGTGTTTTTTTTTTTTGTCACTTTTCATAAGGTTTGGAG
TAAGTTGCAGTGGCTTTTGATCATAGTTTAGCCCATTTAATGGTCCTTTTACCTAGAATGTTCT
TAAGCAGTTAATGACAATTTGGAATACACAGATAACTTGTAGCTTAAGATACTATTTTCATTTA
ATTCTCCTGTGGAGAATATTGCTTTATTTTTTACTAGTTTCAGGTCAGTTATTAAAATAAACAT
GGAGGTTTTAATGAATGTTGTATAATATTTTATAGTGAAGGAAAATTGTGGAAAGGGCAAAGAC
TTTCTCTTTCCCTTATGTATTTAACTGTGCCAATCTAAATACATACTGTTTTATACAATGAGAT
GCATTACAAGACTTTTCTGTTGGAGTGCTCTCGACATTTTGGTTTTCATACCTGAATGATCATT
GCATTTTCTGTATTTTCTAAAATGGCTCCAATTTTGTGTTTTAAGCTTCAGCTTAAGAGGAAGT
TTATGTTCTAATTCTTGACTGAGAATACAGTATTGAGATTCTCTGTTTTACAGATAACAACTGG
TTTTTATTACTCATTAAGTTCATTTGCATCCCGTAGCCCTCTGTAAATGTTTCCCCTAGTTGTA
TGTACGTAAATGCACGCTTATCCAGTGTATATTAGACATTTTTGTGCTAAAATATATTAAGTGG
GATTTTTGTAGCAAAGCATTCTATTTTTCTGTTCTTACAGTGTGTGTGTGTGTGTGTGTGTGTG
TGTATGCGTTTTTTTAACCTTAACTTCAGTTTAAACACTGGTGTATTTATTTTTTTAAGCAACT
TGACTCTTAGAAGCCTTAGACTGATTTTTTCAATAAATATTCAACCAAAAATTATAAATTTATT
AAGATGTGGCCTTACATATGGCATTCCTTGTGTTCGTAATGTGAGATTTTTGATTTAGATAAAT
CAAGATTCAGGATTAAAGTTTCATTGTAAGTTGAAATAGAAAATGTATTAAAATGTCTAGGCTT
CTGGGAGGAAGTTCTTATACTCTTCTTTCTTGGCATTAGAAAGAAGCAATATGAATTTTTGTGA
ATATTCTAAATATTCAGGCAACACTGTTCAGATTGATTTAGGTTTGTCTTAACCAATGTTCTTT
TTTTAGAATTTCAGGTTGTGGCATTCACTGAGTATGCAGCTACTATGGTTTTTGTATGGGACGT
ATAAATACTTGATTATATACGACAGATTTTAATGTCTTTAAAGACTTCCTGCTGTATTAACATA
TTGTAATGGAGTCTTTTAAATACTAGGTTGAATTTAATTGAAGTCACACACATCTTGAAGTGGT
AACTGCATAGTAAATACTACCAAGAGTTTTTTTCACGTGGGAGTATCCTAAAACTCTGCCATGG
GTGTAAATGTTTTACATTAATTTCATAATTGGACAGACCCTGCATTTAGCGAAAACATTTTGTT
TTGAAAGTGTGTTCTTTTTGTCGCACTGTTACTGCGTAACACTTCTCAACATTCTGTAAGTTAA
ATTATTTTAAAATAACTATGGTGAATTCATGTTTATTTTTTTACTTTGAAAATTGTAGTACTCA
GGTGGTATTTAATGGGAAAGGATCCTTTGGGTATAAATCATAATGTATTTTAAGGAATGCATCT
ATAACATTGATAACTTTAGCCTTAAAAAAAAGGTCTATTATTCCTTCCTCTGCATCCCATGGTA
TATTAGCAAAGTAGTTTACAGCCCTGTACAGCCTTACAAAGTTGTTTTACAATTTTTAATGGAA
AGCCCTTAACAACAACAACAAAAAATTGTATCATTTTACCAATATCCACGAATTACTGATCACA
GTTTGTAAATAATTTGTTTAATATCAGAAGGCCAAAGAAAGTCTTAAAATTTTAGCTATTGACT
CTATGGTGACTTCACAATAAGATTTCTGTGCAAAAAGGTAAGGTGATAATTGATCTAATAGACT
TTTTTTTTTTTTTTTTTGCTGTCCATGAGAATTAGACTTCATATTAGCTTCAATTAAAAAGCTC
ATTCCATTTTATTAAAATGTTTGTAATTGCAATTTTGTGTTTAATGTTTACTTTGTCTTTCCTT
TCTTTAGCATTTAGGTGACTGTTCGGCAGTTTGATATATGGCCATTGTCGGCCTTAAACTGCAC
TAGTAACAAGCATGGTATTTATCTTGTATTGAAAATAAAACAAACTTTTGATAAGA

hide sequence

RefSeq Acc Id:

XM_005268588 ⟹ XP_005268645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	69,239,569 - 69,274,358 (+)	NCBI
GRCh37	12	69,633,317 - 69,668,138 (+)	NCBI

Sequence:

show sequence

CGCTAGATCCGCTGCTGCTGCCGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGC
CGAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCGGCGAAG
AGTTCAACCAGGAAGCTGAATATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATC
TCCATCTGCAAATAATGGAGATGCCCCAGAAGACCGAGATTACATGGATACTCTCCCACCAACT
GTTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATACATATACTGGAAAGAGAA
TTGCATTATATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCA
TTCTTTGGGAGTAAATGATATTTTGGAGATAAAATTTTTTGAAAATCGGGCAAATGGCCAGTCA
AAGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAGCATCTTCAAAAAAGTTAATGGATCTGTTAC
CTAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGAGTCA
ATTTGAAATGCAGTCCAGGAAAACTACACAATCAGGACAAATGTCTGGGGAAGGTAAAGCTGGT
CCTCCAGGAGGCAGTTCCCGTGCAGCATTTCCACAAGGTGGTAGAGGACGGGGCCGTTTTCCAG
GGGCTGTTCCTGGTGGGGACAGATTTCCTGGGCCAGCAGGACCAGGAGGGCCACCCCCACCTTT
TCCAGGAAATTTGATCAAGCATCTTGTTAAAGGAACTCGGCCTTTGTTCCTGGAAACTAGGATT
CCATGGCATATGGGGCACAGCATAGAGGAAATACCCATTTTTGGCCTAAAAGCTGGACAGACTC
CACCACGTCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAGGTCCTCCACCTCCTGGTCA
GGTTCTGCCTCCTCCTCTAGCTGGGCCTCCTAATCGAGGAGATCGCCCTCCACCACCAGTTCTT
TTTCCTGGACAACCTTTTGGGCAGCCTCCATTGGGTCCACTTCCTCCTGGCCCTCCACCTCCAG
TTCCAGGCTACGGCCCCCCTCCTGGCCCACCACCTCCACAACAGGGACCACCTCCACCTCCAGG
CCCCTTTCCACCTCGTCCACCCGGTCCACTTGGGCCACCCCTTACACTAGCTCCTCCTCCGCAT
CTTCCTGGACCACCTCCAGGTGCCCCACCGCCAGCTCCGCATGTGAACCCAGCTTTCTTTCCTC
CACCAACTAACAGTGGCATGCCTACATCAGATAGCCGAGGTCCACCACCAACAGATCCATATGG
GCGACCTCCACCATATGATAGGGGTGACTATGGCCCCCCTGGAAGGGAAATGGATACTGCAAGA
ACGCCATTGAGTGAAGCTGAATTTGAAGAAATCATGAATAGAAATAGGGCAATCTCAAGCAGTG
CTATTTCGAGAGCTGTGTCTGATGCCAGTGCTGGTGATTATGGGAGTGCTATTGAGACACTGGT
AACTGCAATTTCTTTAATTAAACAATCCAAAGTATCTGCTGATGATCGTTGCAAAGTTCTTATT
AGTTCTTTGCAAGATTGCCTTCATGGAATTGAGTCCAAGTCTTATGGTTCTGGATCAAGAAGAC
GTGAACGATCAAGAGAGAGGGACCATAGTAGATCACGAGAAAAGAGTCGACGTCATAAATCCCG
TAGTAGAGACCGTCATGACGATTATTACAGAGAGAGAAGCAGAGAACGAGAGAGGCACCGGGAT
CGTGACCGAGACCGTGACCGAGAGCGTGACCGAGAGCGCGAATATCGTCATCGTTAGAAGCTGA
AGGAAGAGGATCACCTTCCAAGACAAAACAGTCTTCATGGGGGAAAAATGACGCTTGTCCAGCA
GTTTGCTTCTTGTGATTGAACTGAACCTGTAAGGATTCATGGATAAAATGAACAGGAATAGATC
TGAATAAAGCAAATCTGCATAAATGGTAACCAGTAGCTCTACTTTTATTTTTTATGTTGCTTAA
CTGTTTTATTTGAAGGAAACCTGTGTGATTTAAAAAGTTATAGCTTTTGCAACTTTATTACTGG
TTATATACATTTGGCCATTATGATGTGCAAGCAATTGGAAAAAAAGTCAAGTAAATGCTTGTTT
TTGTAGTAGTTTGTTCTTGTTAAAAATGTTTATATGATAATGTCTGTAAACAGCATCACTTTGA
TTACAATAGATGTAGTGTTGTAATAAACTGTTTAATGGGGCTGATGTGTAAAGCTGTTCAAGTT
ATTTGATGTTTACACCTCAGGGAAAGTCTTGTGTTCAGCAATATCTAAAGATAATGTTACTATG
ACAACATTTTTACTGTCCTTTAAAGCATTGCAATAGCGTTTTTGGATATGCCTCAATCTAATCT
TGCGTTCAGTGAATTAAACATAGTAATTAAGTGTCTTTTGCCCTTGATTTTGATATTAGAATAG
GTGATTACATGGATATTTAATATTTCTATATTCTGCTTTTCTAGCTGTTTTTACCTAGTTAGCT
TGTGACTTTGCTGAATGGTATGTAAACTTGTAAAAATAGAGATTTGACAGACATAGCAATCTAG
TCAATGTGTAAGGGGTCAAAAAAACAGAGGTTTTAACACATAAGTAAAAACCCGTACATATTTG
ATGTGTAATGCAGGTTAATTACAACACAGATGTACCGAAACACTTAATTGTGAACCGCTAACAT
TGAAGAAATTTTGACAATTCCGATTTGATGCTGCAATTACTTGCTGTTTTTATTGATCTTATGG
TTTATTTCTTAAGCCATAGTCAGTGTAAATACAGCCCTGCAGCAGGTAAATGTGAGTAAAGAGA
GCCTTATATTTTCCAATTGGTATAAATTTTTGAAGGATGTGATGTTCATTAACATTCGGTTGTA
TTCCCCAGTATTTGTAATGGGAAATTACAGATAAACCGTGTCTGCACAGTTTAAGGAATACTAT
GTATATTCATGCACCGTATTGATTCATGCTATAGTTACTTAATCAAAGATTTTTTTCAAACCTG
CCTTACATATAGGCCCACTTTAAAAGCACCTGACTAGCATGTGTTCTTGATTGCAAAATTGGCA
GAGGCAGGGTGTCAACTTGATTAGGTGTTTTTATGGGAATGTAATTTGAAATCACTACTTCAGA
AATTTGACTTAAAATTCTTGAGCACGTTAATATGTTTTTAAGATCTGATTATCTTTGAGAGATC
TTCTGTTAATACACATTGGTTGTTAAAGAGTACCCAAATTCTAGGACAATGCTTAAAGTGTTAA
AATACCCTAGATACTGTGTTATGTGCAACTGTAGAAACCCTCCAGAAATTTCCACTGCTGTTCT
TCACTTTCATCTTGTCTGCTATCAAACCACTTCTGACAAAATTAGCTGTTTTGAATTACCCATA
TCACTGCCAGTTTTATTTTAAAATATTTTGTGTTTGAAGTATCTGTGCATGGGATCGTTGATGT
TTATCAGAACTGTTCACTTTCAGAAATGATTTTTTAAAGCATTTTGTTGAAAATGCGGTTGCTT
TTTTAACATTATTTTAGAGTTGTATCAAAATTTTCCTGTTTTCTGTATATTGTTGTGTCATTTC
TTGGCTTTTTAATATTTTGACTACAATGCCCTAATGCGAAGAAGTATGGACATATAAATATTAC
AAGAGAAATTAGTTAATAGTAAAGGGTTAAAAGGTAAGTAAAATGTCCATGAAAATAAAATTTT
CTTTGAACAGTTTAAAAATGGAATCACAAAAATCTAACTGCACTTGAAATGAAACTGGAAATTT
TATACTAATTAAATCCTTTATTTACCTTTTCATATTTTATCAATGGAACCTTTTAATTGCTCCT
TCTATATCACTCTTCTCCTTGCTTGGCTGATCTCATTACATGACTTTCGTTACAGACAGTGTGA
GTGTACTAGATTTGTTTGCTGCTAATCCGTTATTTTAAGTGTTGTCAGAAGGAAATAACTTCTT
GGTTTGACCAAGTAATTTTGCAAAGTCCTTCTCTACCTGATAACACGTGAATGTATAGCAGTAA
AGGTGAAAATTGCAGGCCTTGTTTTGTTCTTCATACCCCCTTCAGTTGTTTATGGGTTAATGTT
ATTTGAAAACTCTTCCTTTTTTTAATGTGTAAAAACAATCCAAAGAGATAAATCCTTGCATAGA
CACCAAAAACAGTGTCTCAGAGACCTTTTCATTTTTTCCTTAGTTAATAACTGTAGTGGATGTG
AAAACAAACGAGTTGAATTTTAAAACATAGCATTTATTAGTGCTATACAGTCACATTCCTTTCA
GCCAGTAGTAAAGTTAAACAGATGAGTGATACAGTACCTGAATGGTACTGCTTCTGAGGCAACA
CTTTGGATTGAAAGTGCTGCTTTTGGTTAAAGGAACTATGTTGTGGAAAGCATATTCCAGTGTA
AATTTGCAGATGTGTGTTTTTTTTTTTTGTCACTTTTCATAAGGTTTGGAGTAAGTTGCAGTGG
CTTTTGATCATAGTTTAGCCCATTTAATGGTCCTTTTACCTAGAATGTTCTTAAGCAGTTAATG
ACAATTTGGAATACACAGATAACTTGTAGCTTAAGATACTATTTTCATTTAATTCTCCTGTGGA
GAATATTGCTTTATTTTTTACTAGTTTCAGGTCAGTTATTAAAATAAACATGGAGGTTTTAATG
AATGTTGTATAATATTTTATAGTGAAGGAAAATTGTGGAAAGGGCAAAGACTTTCTCTTTCCCT
TATGTATTTAACTGTGCCAATCTAAATACATACTGTTTTATACAATGAGATGCATTACAAGACT
TTTCTGTTGGAGTGCTCTCGACATTTTGGTTTTCATACCTGAATGATCATTGCATTTTCTGTAT
TTTCTAAAATGGCTCCAATTTTGTGTTTTAAGCTTCAGCTTAAGAGGAAGTTTATGTTCTAATT
CTTGACTGAGAATACAGTATTGAGATTCTCTGTTTTACAGATAACAACTGGTTTTTATTACTCA
TTAAGTTCATTTGCATCCCGTAGCCCTCTGTAAATGTTTCCCCTAGTTGTATGTACGTAAATGC
ACGCTTATCCAGTGTATATTAGACATTTTTGTGCTAAAATATATTAAGTGGGATTTTTGTAGCA
AAGCATTCTATTTTTCTGTTCTTACAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCGTTTTT
TTAACCTTAACTTCAGTTTAAACACTGGTGTATTTATTTTTTTAAGCAACTTGACTCTTAGAAG
CCTTAGACTGATTTTTTCAATAAATATTCAACCAAAAATTATAAATTTATTAAGATGTGGCCTT
ACATATGGCATTCCTTGTGTTCGTAATGTGAGATTTTTGATTTAGATAAATCAAGATTCAGGAT
TAAAGTTTCATTGTAAGTTGAAATAGAAAATGTATTAAAATGTCTAGGCTTCTGGGAGGAAGTT
CTTATACTCTTCTTTCTTGGCATTAGAAAGAAGCAATATGAATTTTTGTGAATATTCTAAATAT
TCAGGCAACACTGTTCAGATTGATTTAGGTTTGTCTTAACCAATGTTCTTTTTTTAGAATTTCA
GGTTGTGGCATTCACTGAGTATGCAGCTACTATGGTTTTTGTATGGGACGTATAAATACTTGAT
TATATACGACAGATTTTAATGTCTTTAAAGACTTCCTGCTGTATTAACATATTGTAATGGAGTC
TTTTAAATACTAGGTTGAATTTAATTGAAGTCACACACATCTTGAAGTGGTAACTGCATAGTAA
ATACTACCAAGAGTTTTTTTCACGTGGGAGTATCCTAAAACTCTGCCATGGGTGTAAATGTTTT
ACATTAATTTCATAATTGGACAGACCCTGCATTTAGCGAAAACATTTTGTTTTGAAAGTGTGTT
CTTTTTGTCGCACTGTTACTGCGTAACACTTCTCAACATTCTGTAAGTTAAATTATTTTAAAAT
AACTATGGTGAATTCATGTTTATTTTTTTACTTTGAAAATTGTAGTACTCAGGTGGTATTTAAT
GGGAAAGGATCCTTTGGGTATAAATCATAATGTATTTTAAGGAATGCATCTATAACATTGATAA
CTTTAGCCTTAAAAAAAAGGTCTATTATTCCTTCCTCTGCATCCCATGGTATATTAGCAAAGTA
GTTTACAGCCCTGTACAGCCTTACAAAGTTGTTTTACAATTTTTAATGGAAAGCCCTTAACAAC
AACAACAAAAAATTGTATCATTTTACCAATATCCACGAATTACTGATCACAGTTTGTAAATAAT
TTGTTTAATATCAGAAGGCCAAAGAAAGTCTTAAAATTTTAGCTATTGACTCTATGGTGACTTC
ACAATAAGATTTCTGTGCAAAAAGGTAAGGTGATAATTGATCTAATAGACTTTTTTTTTTTTTT
TTTTGCTGTCCATGAGAATTAGACTTCATATTAGCTTCAATTAAAAAGCTCATTCCATTTTATT
AAAATGTTTGTAATTGCAATTTTGTGTTTAATGTTTACTTTGTCTTTCCTTTCTTTAGCATTTA
GGTGACTGTTCGGCAGTTTGATATATGGCCATTGTCGGCCTTAAACTGCACTAGTAACAAGCAT
GGTATTTATCTTGTATTGAAAATAAAACAAACTTTTGATAAGA

hide sequence

RefSeq Acc Id:

XM_005268590 ⟹ XP_005268647

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	69,239,569 - 69,274,358 (+)	NCBI
GRCh37	12	69,633,317 - 69,668,138 (+)	NCBI

Sequence:

show sequence

CGCTAGATCCGCTGCTGCTGCCGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCGGCGGCGGC
CGAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCGGCGAAG
AGTTCAACCAGGAAGCTGAATATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATC
TCCATCTGCAAATAATGGAGATGCCCCAGAAGACCGAGATTACATGGATACTCTCCCACCAACT
GTTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATACATATACTGGAAAGAGAA
TTGCATTATATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCA
TTCTTTGGGAGTAAATGATATTTTGGAGATAAAATTTTTTGAAAATCGGGCAAATGGCCAGTCA
AAGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAGCATCTTCAAAAAAGTTAATGGATCTGTTAC
CTAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGAGTCA
ATTTGAAATGCAGTCCAGGAAAACTACACAATCAGGACAAATGTCTGGGGAAGGTAAAGCTGGT
CCTCCAGGAGGCAGTTCCCGTGCAGCATTTCCACAAGGTGGTAGAGGACGGGGCCGTTTTCCAG
GGGCTGTTCCTGGTGGGGACAGATTTCCTGGGCCAGCAGGACCAGGAGGGCCACCCCCACCTTT
TCCAGCTGGACAGACTCCACCACGTCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAGGT
CCTCCACCTCCTGGTCAGGTTCTGCCTCCTCCTCTAGCTGGGCCTCCTAATCGAGGAGATCGCC
CTCCACCACCAGTTCTTTTTCCTGGACAACCTTTTGGGCAGCCTCCATTGGGTCCACTTCCTCC
TGGCCCTCCACCTCCAGTTCCAGGCTACGGCCCCCCTCCTGGCCCACCACCTCCACAACAGGGA
CCACCTCCACCTCCAGGCCCCTTTCCACCTCGTCCACCCGGTCCACTTGGGCCACCCCTTACAC
TAGCTCCTCCTCCGCATCTTCCTGGACCACCTCCAGGTGCCCCACCGCCAGCTCCGCATGTGAA
CCCAGCTTTCTTTCCTCCACCAACTAACAGTGGCATGCCTACATCAGATAGCCGAGGTCCACCA
CCAACAGATCCATATGGGCGACCTCCACCATATGATAGGGGTGACTATGGCCCCCCTGGAAGGG
AAATGGATACTGCAAGAACGCCATTGAGTGAAGCTGAATTTGAAGAAATCATGAATAGAAATAG
GGCAATCTCAAGCAGTGCTATTTCGAGAGCTGTGTCTGATGCCAGTGCTGGTGATTATGGGAGT
GCTATTGAGACACTGGTAACTGCAATTTCTTTAATTAAACAATCCAAAGTATCTGCTGATGATC
GTTGCAAAGTTCTTATTAGTTCTTTGCAAGATTGCCTTCATGGAATTGAGTCCAAGTCTTATGG
TTCTGGATCAAGAAGACGTGAACGATCAAGAGAGAGGGACCATAGTAGATCACGAGAAAAGAGT
CGACGTCATAAATCCCGTAGTAGAGACCGTCATGACGATTATTACAGAGAGAGAAGCAGAGAAC
GAGAGAGGCACCGGGATCGTGACCGAGACCGTGACCGAGAGCGTGACCGAGAGCGCGAATATCG
TCATCGTTAGAAGCTGAAGGAAGAGGATCACCTTCCAAGACAAAACAGTCTTCATGGGGGAAAA
ATGACGCTTGTCCAGCAGTTTGCTTCTTGTGATTGAACTGAACCTGTAAGGATTCATGGATAAA
ATGAACAGGAATAGATCTGAATAAAGCAAATCTGCATAAATGGTAACCAGTAGCTCTACTTTTA
TTTTTTATGTTGCTTAACTGTTTTATTTGAAGGAAACCTGTGTGATTTAAAAAGTTATAGCTTT
TGCAACTTTATTACTGGTTATATACATTTGGCCATTATGATGTGCAAGCAATTGGAAAAAAAGT
CAAGTAAATGCTTGTTTTTGTAGTAGTTTGTTCTTGTTAAAAATGTTTATATGATAATGTCTGT
AAACAGCATCACTTTGATTACAATAGATGTAGTGTTGTAATAAACTGTTTAATGGGGCTGATGT
GTAAAGCTGTTCAAGTTATTTGATGTTTACACCTCAGGGAAAGTCTTGTGTTCAGCAATATCTA
AAGATAATGTTACTATGACAACATTTTTACTGTCCTTTAAAGCATTGCAATAGCGTTTTTGGAT
ATGCCTCAATCTAATCTTGCGTTCAGTGAATTAAACATAGTAATTAAGTGTCTTTTGCCCTTGA
TTTTGATATTAGAATAGGTGATTACATGGATATTTAATATTTCTATATTCTGCTTTTCTAGCTG
TTTTTACCTAGTTAGCTTGTGACTTTGCTGAATGGTATGTAAACTTGTAAAAATAGAGATTTGA
CAGACATAGCAATCTAGTCAATGTGTAAGGGGTCAAAAAAACAGAGGTTTTAACACATAAGTAA
AAACCCGTACATATTTGATGTGTAATGCAGGTTAATTACAACACAGATGTACCGAAACACTTAA
TTGTGAACCGCTAACATTGAAGAAATTTTGACAATTCCGATTTGATGCTGCAATTACTTGCTGT
TTTTATTGATCTTATGGTTTATTTCTTAAGCCATAGTCAGTGTAAATACAGCCCTGCAGCAGGT
AAATGTGAGTAAAGAGAGCCTTATATTTTCCAATTGGTATAAATTTTTGAAGGATGTGATGTTC
ATTAACATTCGGTTGTATTCCCCAGTATTTGTAATGGGAAATTACAGATAAACCGTGTCTGCAC
AGTTTAAGGAATACTATGTATATTCATGCACCGTATTGATTCATGCTATAGTTACTTAATCAAA
GATTTTTTTCAAACCTGCCTTACATATAGGCCCACTTTAAAAGCACCTGACTAGCATGTGTTCT
TGATTGCAAAATTGGCAGAGGCAGGGTGTCAACTTGATTAGGTGTTTTTATGGGAATGTAATTT
GAAATCACTACTTCAGAAATTTGACTTAAAATTCTTGAGCACGTTAATATGTTTTTAAGATCTG
ATTATCTTTGAGAGATCTTCTGTTAATACACATTGGTTGTTAAAGAGTACCCAAATTCTAGGAC
AATGCTTAAAGTGTTAAAATACCCTAGATACTGTGTTATGTGCAACTGTAGAAACCCTCCAGAA
ATTTCCACTGCTGTTCTTCACTTTCATCTTGTCTGCTATCAAACCACTTCTGACAAAATTAGCT
GTTTTGAATTACCCATATCACTGCCAGTTTTATTTTAAAATATTTTGTGTTTGAAGTATCTGTG
CATGGGATCGTTGATGTTTATCAGAACTGTTCACTTTCAGAAATGATTTTTTAAAGCATTTTGT
TGAAAATGCGGTTGCTTTTTTAACATTATTTTAGAGTTGTATCAAAATTTTCCTGTTTTCTGTA
TATTGTTGTGTCATTTCTTGGCTTTTTAATATTTTGACTACAATGCCCTAATGCGAAGAAGTAT
GGACATATAAATATTACAAGAGAAATTAGTTAATAGTAAAGGGTTAAAAGGTAAGTAAAATGTC
CATGAAAATAAAATTTTCTTTGAACAGTTTAAAAATGGAATCACAAAAATCTAACTGCACTTGA
AATGAAACTGGAAATTTTATACTAATTAAATCCTTTATTTACCTTTTCATATTTTATCAATGGA
ACCTTTTAATTGCTCCTTCTATATCACTCTTCTCCTTGCTTGGCTGATCTCATTACATGACTTT
CGTTACAGACAGTGTGAGTGTACTAGATTTGTTTGCTGCTAATCCGTTATTTTAAGTGTTGTCA
GAAGGAAATAACTTCTTGGTTTGACCAAGTAATTTTGCAAAGTCCTTCTCTACCTGATAACACG
TGAATGTATAGCAGTAAAGGTGAAAATTGCAGGCCTTGTTTTGTTCTTCATACCCCCTTCAGTT
GTTTATGGGTTAATGTTATTTGAAAACTCTTCCTTTTTTTAATGTGTAAAAACAATCCAAAGAG
ATAAATCCTTGCATAGACACCAAAAACAGTGTCTCAGAGACCTTTTCATTTTTTCCTTAGTTAA
TAACTGTAGTGGATGTGAAAACAAACGAGTTGAATTTTAAAACATAGCATTTATTAGTGCTATA
CAGTCACATTCCTTTCAGCCAGTAGTAAAGTTAAACAGATGAGTGATACAGTACCTGAATGGTA
CTGCTTCTGAGGCAACACTTTGGATTGAAAGTGCTGCTTTTGGTTAAAGGAACTATGTTGTGGA
AAGCATATTCCAGTGTAAATTTGCAGATGTGTGTTTTTTTTTTTTGTCACTTTTCATAAGGTTT
GGAGTAAGTTGCAGTGGCTTTTGATCATAGTTTAGCCCATTTAATGGTCCTTTTACCTAGAATG
TTCTTAAGCAGTTAATGACAATTTGGAATACACAGATAACTTGTAGCTTAAGATACTATTTTCA
TTTAATTCTCCTGTGGAGAATATTGCTTTATTTTTTACTAGTTTCAGGTCAGTTATTAAAATAA
ACATGGAGGTTTTAATGAATGTTGTATAATATTTTATAGTGAAGGAAAATTGTGGAAAGGGCAA
AGACTTTCTCTTTCCCTTATGTATTTAACTGTGCCAATCTAAATACATACTGTTTTATACAATG
AGATGCATTACAAGACTTTTCTGTTGGAGTGCTCTCGACATTTTGGTTTTCATACCTGAATGAT
CATTGCATTTTCTGTATTTTCTAAAATGGCTCCAATTTTGTGTTTTAAGCTTCAGCTTAAGAGG
AAGTTTATGTTCTAATTCTTGACTGAGAATACAGTATTGAGATTCTCTGTTTTACAGATAACAA
CTGGTTTTTATTACTCATTAAGTTCATTTGCATCCCGTAGCCCTCTGTAAATGTTTCCCCTAGT
TGTATGTACGTAAATGCACGCTTATCCAGTGTATATTAGACATTTTTGTGCTAAAATATATTAA
GTGGGATTTTTGTAGCAAAGCATTCTATTTTTCTGTTCTTACAGTGTGTGTGTGTGTGTGTGTG
TGTGTGTATGCGTTTTTTTAACCTTAACTTCAGTTTAAACACTGGTGTATTTATTTTTTTAAGC
AACTTGACTCTTAGAAGCCTTAGACTGATTTTTTCAATAAATATTCAACCAAAAATTATAAATT
TATTAAGATGTGGCCTTACATATGGCATTCCTTGTGTTCGTAATGTGAGATTTTTGATTTAGAT
AAATCAAGATTCAGGATTAAAGTTTCATTGTAAGTTGAAATAGAAAATGTATTAAAATGTCTAG
GCTTCTGGGAGGAAGTTCTTATACTCTTCTTTCTTGGCATTAGAAAGAAGCAATATGAATTTTT
GTGAATATTCTAAATATTCAGGCAACACTGTTCAGATTGATTTAGGTTTGTCTTAACCAATGTT
CTTTTTTTAGAATTTCAGGTTGTGGCATTCACTGAGTATGCAGCTACTATGGTTTTTGTATGGG
ACGTATAAATACTTGATTATATACGACAGATTTTAATGTCTTTAAAGACTTCCTGCTGTATTAA
CATATTGTAATGGAGTCTTTTAAATACTAGGTTGAATTTAATTGAAGTCACACACATCTTGAAG
TGGTAACTGCATAGTAAATACTACCAAGAGTTTTTTTCACGTGGGAGTATCCTAAAACTCTGCC
ATGGGTGTAAATGTTTTACATTAATTTCATAATTGGACAGACCCTGCATTTAGCGAAAACATTT
TGTTTTGAAAGTGTGTTCTTTTTGTCGCACTGTTACTGCGTAACACTTCTCAACATTCTGTAAG
TTAAATTATTTTAAAATAACTATGGTGAATTCATGTTTATTTTTTTACTTTGAAAATTGTAGTA
CTCAGGTGGTATTTAATGGGAAAGGATCCTTTGGGTATAAATCATAATGTATTTTAAGGAATGC
ATCTATAACATTGATAACTTTAGCCTTAAAAAAAAGGTCTATTATTCCTTCCTCTGCATCCCAT
GGTATATTAGCAAAGTAGTTTACAGCCCTGTACAGCCTTACAAAGTTGTTTTACAATTTTTAAT
GGAAAGCCCTTAACAACAACAACAAAAAATTGTATCATTTTACCAATATCCACGAATTACTGAT
CACAGTTTGTAAATAATTTGTTTAATATCAGAAGGCCAAAGAAAGTCTTAAAATTTTAGCTATT
GACTCTATGGTGACTTCACAATAAGATTTCTGTGCAAAAAGGTAAGGTGATAATTGATCTAATA
GACTTTTTTTTTTTTTTTTTTGCTGTCCATGAGAATTAGACTTCATATTAGCTTCAATTAAAAA
GCTCATTCCATTTTATTAAAATGTTTGTAATTGCAATTTTGTGTTTAATGTTTACTTTGTCTTT
CCTTTCTTTAGCATTTAGGTGACTGTTCGGCAGTTTGATATATGGCCATTGTCGGCCTTAAACT
GCACTAGTAACAAGCATGGTATTTATCTTGTATTGAAAATAAAACAAACTTTTGATAAGA

hide sequence

RefSeq Acc Id:

XM_047428132 ⟹ XP_047284088

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	69,239,569 - 69,262,563 (+)	NCBI

RefSeq Acc Id:

XM_054370842 ⟹ XP_054226817

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	69,218,652 - 69,253,462 (+)	NCBI

RefSeq Acc Id:

XM_054370843 ⟹ XP_054226818

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	69,218,652 - 69,241,669 (+)	NCBI

RefSeq Acc Id:

XM_054370844 ⟹ XP_054226819

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	69,218,652 - 69,253,462 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001287876	(Get FASTA)	NCBI Sequence Viewer
	NP_008938	(Get FASTA)	NCBI Sequence Viewer
	XP_005268645	(Get FASTA)	NCBI Sequence Viewer
	XP_005268647	(Get FASTA)	NCBI Sequence Viewer
	XP_047284088	(Get FASTA)	NCBI Sequence Viewer
	XP_054226817	(Get FASTA)	NCBI Sequence Viewer
	XP_054226818	(Get FASTA)	NCBI Sequence Viewer
	XP_054226819	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH00714	(Get FASTA)	NCBI Sequence Viewer
	AAH05000	(Get FASTA)	NCBI Sequence Viewer
	BAD97288	(Get FASTA)	NCBI Sequence Viewer
	BAF84713	(Get FASTA)	NCBI Sequence Viewer
	BAG61761	(Get FASTA)	NCBI Sequence Viewer
	CAA47751	(Get FASTA)	NCBI Sequence Viewer
	CAA47752	(Get FASTA)	NCBI Sequence Viewer
	CCQ43384	(Get FASTA)	NCBI Sequence Viewer
	EAW97215	(Get FASTA)	NCBI Sequence Viewer
	EAW97216	(Get FASTA)	NCBI Sequence Viewer
	EAW97217	(Get FASTA)	NCBI Sequence Viewer
	EAW97218	(Get FASTA)	NCBI Sequence Viewer
	EAW97219	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000266679
	ENSP00000266679.8
	ENSP00000391774
	ENSP00000391774.2
GenBank Protein	Q16630	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_008938 ⟸ NM_007007
- Peptide Label:	isoform 1
- UniProtKB:	Q9BSJ7 (UniProtKB/Swiss-Prot), Q53ES1 (UniProtKB/Swiss-Prot), A8K7K9 (UniProtKB/Swiss-Prot), Q9BW18 (UniProtKB/Swiss-Prot), Q16630 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDV GKGAAPNVVYTYTGKRIALYIGNLTWWTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFAL VGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTTQSGQMSGEGKAGPPGGS SRAAFPQGGRGRGRFPGAVPGGDRFPGPAGPGGPPPPFPAGQTPPRPPLGPPGPPGPPGPPPPG QVLPPPLAGPPNRGDRPPPPVLFPGQPFGQPPLGPLPPGPPPPVPGYGPPPGPPPPQQGPPPPP GPFPPRPPGPLGPPLTLAPPPHLPGPPPGAPPPAPHVNPAFFPPPTNSGMPTSDSRGPPPTDPY GRPPPYDRGDYGPPGREMDTARTPLSEAEFEEIMNRNRAISSSAISRAVSDASAGDYGSAIETL VTAISLIKQSKVSADDRCKVLISSLQDCLHGIESKSYGSGSRRERSRERDHSRSREKSRRHKSR SRDRHDDYYRERSRERERHRDRDRDRDRERDREREYRHR hide sequence

RefSeq Acc Id:

XP_005268645 ⟸ XM_005268588

- Peptide Label:

isoform X1

- Sequence:

show sequence

MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDV
GKGAAPNVVYTYTGKRIALYIGNLTWWTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFAL
VGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTTQSGQMSGEGKAGPPGGS
SRAAFPQGGRGRGRFPGAVPGGDRFPGPAGPGGPPPPFPGNLIKHLVKGTRPLFLETRIPWHMG
HSIEEIPIFGLKAGQTPPRPPLGPPGPPGPPGPPPPGQVLPPPLAGPPNRGDRPPPPVLFPGQP
FGQPPLGPLPPGPPPPVPGYGPPPGPPPPQQGPPPPPGPFPPRPPGPLGPPLTLAPPPHLPGPP
PGAPPPAPHVNPAFFPPPTNSGMPTSDSRGPPPTDPYGRPPPYDRGDYGPPGREMDTARTPLSE
AEFEEIMNRNRAISSSAISRAVSDASAGDYGSAIETLVTAISLIKQSKVSADDRCKVLISSLQD
CLHGIESKSYGSGSRRRERSRERDHSRSREKSRRHKSRSRDRHDDYYRERSRERERHRDRDRDR
DRERDREREYRHR

hide sequence

RefSeq Acc Id:

XP_005268647 ⟸ XM_005268590

- Peptide Label:

isoform X2

- Sequence:

show sequence

MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDV
GKGAAPNVVYTYTGKRIALYIGNLTWWTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFAL
VGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTTQSGQMSGEGKAGPPGGS
SRAAFPQGGRGRGRFPGAVPGGDRFPGPAGPGGPPPPFPAGQTPPRPPLGPPGPPGPPGPPPPG
QVLPPPLAGPPNRGDRPPPPVLFPGQPFGQPPLGPLPPGPPPPVPGYGPPPGPPPPQQGPPPPP
GPFPPRPPGPLGPPLTLAPPPHLPGPPPGAPPPAPHVNPAFFPPPTNSGMPTSDSRGPPPTDPY
GRPPPYDRGDYGPPGREMDTARTPLSEAEFEEIMNRNRAISSSAISRAVSDASAGDYGSAIETL
VTAISLIKQSKVSADDRCKVLISSLQDCLHGIESKSYGSGSRRRERSRERDHSRSREKSRRHKS
RSRDRHDDYYRERSRERERHRDRDRDRDRERDREREYRHR

hide sequence

RefSeq Acc Id:	NP_001287876 ⟸ NM_001300947
- Peptide Label:	isoform 2
- UniProtKB:	Q16630 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDV GKGAAPNVVYTYTGKRIALYIGNLTWWTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFAL VGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTTQSGQMSGEGKAGPPGGS SRAAFPQGGRGRGRFPGAVPGGDRFPGPAGPGGPPPPFPGNLIKHLVKGTRPLFLETRIPWHMG HSIEEIPIFGLKAGQTPPRPPLGPPGPPGPPGPPPPGQVLPPPLAGPPNRGDRPPPPVLFPGQP FGQPPLGPLPPGPPPPVPGYGPPPGPPPPQQGPPPPPGPFPPRPPGPLGPPLTLAPPPHLPGPP PGAPPPAPHVNPAFFPPPTNSGMPTSDSRGPPPTDPYGRPPPYDRGDYGPPGREMDTARTPLSE AEFEEIMNRNRAISSSAISRAVSDASAGDYGSAIETLVTAISLIKQSKVSADDRCKVLISSLQD CLHGIESKSYGSGSRRERSRERDHSRSREKSRRHKSRSRDRHDDYYRERSRERERHRDRDRDRD RERDREREYRHR hide sequence

Ensembl Acc Id:

ENSP00000266679 ⟸ ENST00000266679

Ensembl Acc Id:

ENSP00000497420 ⟸ ENST00000650046

Ensembl Acc Id:

ENSP00000391437 ⟸ ENST00000456847

Ensembl Acc Id:

ENSP00000446670 ⟸ ENST00000550075

Ensembl Acc Id:

ENSP00000450206 ⟸ ENST00000551516

Ensembl Acc Id:

ENSP00000391774 ⟸ ENST00000435070

RefSeq Acc Id:	XP_047284088 ⟸ XM_047428132
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054226817 ⟸ XM_054370842
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054226819 ⟸ XM_054370844
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054226818 ⟸ XM_054370843
- Peptide Label:	isoform X1

Protein Domains

RRM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q16630-F1-model_v2	AlphaFold	Q16630	1-551	view protein structure

Promoters

RGD ID:

6789823

Promoter ID:

HG_KWN:16123

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:

NM_007007, UC001SUU.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	67,919,409 - 67,919,909 (+)	MPROMDB

RGD ID:

7224767

Promoter ID:

EPDNEW_H18129

Type:

initiation region

Name:

CPSF6_1

Description:

cleavage and polyadenylation specific factor 6

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	69,239,572 - 69,239,632	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13871	AgrOrtholog
COSMIC	CPSF6	COSMIC
Ensembl Genes	ENSG00000111605	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000266679	ENTREZGENE
	ENST00000266679.8	UniProtKB/Swiss-Prot
	ENST00000435070	ENTREZGENE
	ENST00000435070.7	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.70.330	UniProtKB/Swiss-Prot
GTEx	ENSG00000111605	GTEx
HGNC ID	HGNC:13871	ENTREZGENE
Human Proteome Map	CPSF6	Human Proteome Map
InterPro	CPSF6	UniProtKB/Swiss-Prot
	CPSF6/7	UniProtKB/Swiss-Prot
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot
	RBD_domain_sf	UniProtKB/Swiss-Prot
	RRM_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:11052	UniProtKB/Swiss-Prot
NCBI Gene	11052	ENTREZGENE
OMIM	604979	OMIM
PANTHER	PTHR23204	UniProtKB/Swiss-Prot
Pfam	RRM_1	UniProtKB/Swiss-Prot
PharmGKB	PA26846	PharmGKB
PROSITE	RRM	UniProtKB/Swiss-Prot
SMART	RRM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54928	UniProtKB/Swiss-Prot
UniProt	A0A2P1M8Z1_HUMAN	UniProtKB/TrEMBL
	A0A2P1M905_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISW1_HUMAN	UniProtKB/TrEMBL
	A8K7K9	ENTREZGENE
	CPSF6_HUMAN	UniProtKB/Swiss-Prot
	F8VNP8_HUMAN	UniProtKB/TrEMBL
	F8W084_HUMAN	UniProtKB/TrEMBL
	F8WJN3_HUMAN	UniProtKB/TrEMBL
	L8E8D6_HUMAN	UniProtKB/TrEMBL
	Q16630	ENTREZGENE
	Q53ES1	ENTREZGENE
	Q9BSJ7	ENTREZGENE
	Q9BW18	ENTREZGENE
UniProt Secondary	A8K7K9	UniProtKB/Swiss-Prot
	Q53ES1	UniProtKB/Swiss-Prot
	Q9BSJ7	UniProtKB/Swiss-Prot
	Q9BW18	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	CPSF6	cleavage and polyadenylation specific factor 6	CPSF6	cleavage and polyadenylation specific factor 6, 68kDa	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)

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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RGD Manual Annotations

Imported Annotations - KEGG (archival)