DRC7 (dynein regulatory complex subunit 7)

Gene: DRC7 (dynein regulatory complex subunit 7) Homo sapiens

Analyze

Symbol:

DRC7

Name:

dynein regulatory complex subunit 7

RGD ID:

1604275

HGNC Page

HGNC:25289

Description:

Predicted to be involved in sperm axoneme assembly. Located in cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C16orf50; CCDC135; CFAP50; coiled-coil domain containing 135; coiled-coil domain-containing protein 135; coiled-coil domain-containing protein lobo homolog; DKFZp434I099; FAP50

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	57,694,793 - 57,731,805 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	57,728,718 - 57,765,717 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	56,286,227 - 56,322,868 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	42,224,749 - 42,262,676 (+)	NCBI		Celera
Cytogenetic Map	16	q21	NCBI
HuRef	16	43,596,311 - 43,632,296 (+)	NCBI		HuRef
CHM1_1	16	59,134,320 - 59,172,147 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	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

Bardet-Biedl syndrome (IAGP)

developmental and epileptic encephalopathy (IAGP)

early infantile epileptic encephalopathy (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

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

4,4'-sulfonyldiphenol (ISO)

acrylamide (ISO)

amiodarone (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

bisphenol F (ISO)

copper atom (ISO)

copper(0) (ISO)

lipopolysaccharide (EXP)

pirinixic acid (ISO)

potassium dichromate (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (EXP)

silver atom (ISO)

silver(0) (ISO)

Theaflavin 3,3'-digallate (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

flagellated sperm motility (IBA,IEA,ISS)

sperm axoneme assembly (IEA,ISS)

spermatogenesis (IEA,ISS)

Cellular Component

cytoplasm (IDA,IEA)

cytoskeleton (IEA)

motile cilium (IBA,IEA)

Molecular Function

protein binding (IPI)

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:11230166	PMID:11256614	PMID:12477932	PMID:14702039	PMID:16344560	PMID:21289096	PMID:21873635	PMID:22983010	PMID:24407287	PMID:25416956	PMID:30997501	PMID:32296183
PMID:32814053	PMID:37774976

Genomics

Comparative Map Data

DRC7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	57,694,793 - 57,731,805 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	57,728,718 - 57,765,717 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	56,286,227 - 56,322,868 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	42,224,749 - 42,262,676 (+)	NCBI		Celera
Cytogenetic Map	16	q21	NCBI
HuRef	16	43,596,311 - 43,632,296 (+)	NCBI		HuRef
CHM1_1	16	59,134,320 - 59,172,147 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI		T2T-CHM13v2.0

Drc7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	95,781,731 - 95,804,769 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	95,781,731 - 95,804,769 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	95,055,103 - 95,078,141 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	95,055,103 - 95,078,141 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	97,579,003 - 97,602,041 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	97,579,003 - 97,602,041 (+)	NCBI		MGSCv36	mm8
Celera	8	99,381,092 - 99,404,172 (+)	NCBI		Celera
Cytogenetic Map	8	C5	NCBI
cM Map	8	47.12	NCBI

Drc7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	9,949,484 - 9,967,296 (-)	NCBI		GRCr8
mRatBN7.2	19	9,943,452 - 9,961,266 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	9,943,456 - 9,961,163 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	9,907,019 - 9,924,764 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	10,673,860 - 10,691,604 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	9,960,748 - 9,978,484 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	10,363,012 - 10,380,822 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	10,363,108 - 10,380,809 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	10,342,364 - 10,360,097 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	10,377,415 - 10,395,121 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	19	9,831,376 - 9,849,084 (-)	NCBI		Celera
Cytogenetic Map	19	p13	NCBI

Drc7
(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_004955433	15,322,508 - 15,340,525 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955433	15,319,829 - 15,340,525 (+)	NCBI	ChiLan1.0	ChiLan1.0

DRC7
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	67,165,046 - 67,202,389 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	73,085,895 - 73,123,319 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	37,970,908 - 38,008,156 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	57,103,720 - 57,139,220 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	57,103,720 - 57,139,220 (+)	Ensembl	panpan1.1		panPan2

DRC7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	58,758,644 - 58,775,484 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	58,758,655 - 58,774,080 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	55,388,430 - 55,405,244 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	59,297,005 - 59,313,845 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	59,297,016 - 59,312,442 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	56,128,727 - 56,145,542 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	57,136,216 - 57,153,027 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	58,029,533 - 58,046,352 (-)	NCBI		UU_Cfam_GSD_1.0

Drc7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	49,854,328 - 49,873,417 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	9,715,858 - 9,734,627 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	9,715,858 - 9,734,627 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DRC7
(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	19,603,399 - 19,629,172 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	19,603,413 - 19,629,175 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	17,574,087 - 17,586,852 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103233069
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	43,627,591 - 43,662,538 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	43,627,577 - 43,664,702 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666530	27,871 - 51,241 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Drc7
(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_004624746	28,385,320 - 28,404,416 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	28,386,638 - 28,406,276 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in DRC7
44 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	copy number gain	See cases [RCV000052405]	Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2	pathogenic
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	copy number loss	See cases [RCV000133738]	Chr16:55457477..63841622 [GRCh38] Chr16:55491389..63875526 [GRCh37] Chr16:54048890..62433027 [NCBI36] Chr16:16q12.2-21	pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	copy number gain	See cases [RCV000143752]	Chr16:49685521..68401712 [GRCh38] Chr16:49719432..68435615 [GRCh37] Chr16:48276933..66993116 [NCBI36] Chr16:16q12.1-22.1	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207067]	Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2	likely pathogenic\|uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	copy number gain	See cases [RCV000511791]	Chr16:34197492..64509054 [GRCh37] Chr16:16p11.2-q21	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_001289162.2(DRC7):c.2158A>G (p.Lys720Glu)	single nucleotide variant	Inborn genetic diseases [RCV003245931]	Chr16:57727371 [GRCh38] Chr16:57761283 [GRCh37] Chr16:16q21	uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	copy number gain	not provided [RCV000683820]	Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2	pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	copy number loss	not provided [RCV000683823]	Chr16:56950941..60203590 [GRCh37] Chr16:16q13-21	pathogenic\|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q21(chr16:57723179-57729431)x1	copy number loss	not provided [RCV000751695]	Chr16:57723179..57729431 [GRCh37] Chr16:16q21	benign
GRCh37/hg19 16q21(chr16:57723197-57729431)x0	copy number loss	not provided [RCV000751696]	Chr16:57723197..57729431 [GRCh37] Chr16:16q21	benign
GRCh37/hg19 16q21(chr16:57499814-58032169)x3	copy number gain	not provided [RCV000996429]	Chr16:57499814..58032169 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2057G>A (p.Arg686Lys)	single nucleotide variant	Inborn genetic diseases [RCV003266971]	Chr16:57726914 [GRCh38] Chr16:57760826 [GRCh37] Chr16:16q21	uncertain significance
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	copy number gain	not provided [RCV000848548]	Chr16:53455650..64006604 [GRCh37] Chr16:16q12.2-21	uncertain significance
Single allele	duplication	not provided [RCV001542388]	Chr16:46385317..61223349 [GRCh38] Chr16:16q11.2-21	pathogenic
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	copy number loss	not provided [RCV001259855]	Chr16:57292407..59103985 [GRCh37] Chr16:16q13-21	uncertain significance
NM_001289162.2(DRC7):c.898C>T (p.Arg300Trp)	single nucleotide variant	Inborn genetic diseases [RCV003198832]	Chr16:57707499 [GRCh38] Chr16:57741411 [GRCh37] Chr16:16q21	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NC_000016.9:g.(?_56226148)_(58768132_?)del	deletion	Bardet-Biedl syndrome [RCV003119976]\|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791]	Chr16:56226148..58768132 [GRCh37] Chr16:16q12.2-21	pathogenic
NC_000016.9:g.(?_57016057)_(58768132_?)del	deletion	not provided [RCV003122679]	Chr16:57016057..58768132 [GRCh37] Chr16:16q13-21	pathogenic
NM_001289162.2(DRC7):c.61G>A (p.Glu21Lys)	single nucleotide variant	Inborn genetic diseases [RCV002901899]	Chr16:57698010 [GRCh38] Chr16:57731922 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2482T>C (p.Cys828Arg)	single nucleotide variant	Inborn genetic diseases [RCV002817010]	Chr16:57731021 [GRCh38] Chr16:57764933 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2327G>A (p.Cys776Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002973018]	Chr16:57728520 [GRCh38] Chr16:57762432 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2060A>G (p.His687Arg)	single nucleotide variant	Inborn genetic diseases [RCV002777514]	Chr16:57726917 [GRCh38] Chr16:57760829 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.400C>T (p.Arg134Trp)	single nucleotide variant	Inborn genetic diseases [RCV002945248]	Chr16:57700166 [GRCh38] Chr16:57734078 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.849G>C (p.Glu283Asp)	single nucleotide variant	Inborn genetic diseases [RCV002733439]	Chr16:57705025 [GRCh38] Chr16:57738937 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.424G>A (p.Glu142Lys)	single nucleotide variant	Inborn genetic diseases [RCV002759452]	Chr16:57700190 [GRCh38] Chr16:57734102 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1957A>G (p.Met653Val)	single nucleotide variant	Inborn genetic diseases [RCV002823620]	Chr16:57726266 [GRCh38] Chr16:57760178 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1381C>T (p.Arg461Cys)	single nucleotide variant	Inborn genetic diseases [RCV002781585]	Chr16:57722814 [GRCh38] Chr16:57756726 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1382G>A (p.Arg461His)	single nucleotide variant	Inborn genetic diseases [RCV002694281]	Chr16:57722815 [GRCh38] Chr16:57756727 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.272A>G (p.Glu91Gly)	single nucleotide variant	Inborn genetic diseases [RCV002758478]	Chr16:57698918 [GRCh38] Chr16:57732830 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1796C>G (p.Pro599Arg)	single nucleotide variant	Inborn genetic diseases [RCV002987656]	Chr16:57726105 [GRCh38] Chr16:57760017 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1534C>T (p.Arg512Cys)	single nucleotide variant	Inborn genetic diseases [RCV002955090]	Chr16:57723127 [GRCh38] Chr16:57757039 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1456A>G (p.Met486Val)	single nucleotide variant	Inborn genetic diseases [RCV002697068]	Chr16:57723049 [GRCh38] Chr16:57756961 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.899G>A (p.Arg300Gln)	single nucleotide variant	Inborn genetic diseases [RCV002788049]	Chr16:57707500 [GRCh38] Chr16:57741412 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.982T>C (p.Tyr328His)	single nucleotide variant	Inborn genetic diseases [RCV002956182]	Chr16:57707583 [GRCh38] Chr16:57741495 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.865G>A (p.Glu289Lys)	single nucleotide variant	Inborn genetic diseases [RCV002788572]	Chr16:57707466 [GRCh38] Chr16:57741378 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2348G>A (p.Arg783Gln)	single nucleotide variant	Inborn genetic diseases [RCV003003686]	Chr16:57728541 [GRCh38] Chr16:57762453 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2126C>T (p.Ala709Val)	single nucleotide variant	Inborn genetic diseases [RCV002986319]	Chr16:57727339 [GRCh38] Chr16:57761251 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1237A>G (p.Met413Val)	single nucleotide variant	Inborn genetic diseases [RCV002874376]	Chr16:57721697 [GRCh38] Chr16:57755609 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2156C>A (p.Thr719Asn)	single nucleotide variant	Inborn genetic diseases [RCV002675255]	Chr16:57727369 [GRCh38] Chr16:57761281 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.217G>C (p.Asp73His)	single nucleotide variant	Inborn genetic diseases [RCV002935126]	Chr16:57698863 [GRCh38] Chr16:57732775 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2588A>G (p.Asp863Gly)	single nucleotide variant	Inborn genetic diseases [RCV002673247]	Chr16:57731221 [GRCh38] Chr16:57765133 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2104C>G (p.Leu702Val)	single nucleotide variant	Inborn genetic diseases [RCV002674981]	Chr16:57727317 [GRCh38] Chr16:57761229 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.478G>A (p.Val160Met)	single nucleotide variant	Inborn genetic diseases [RCV002832259]	Chr16:57700244 [GRCh38] Chr16:57734156 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.619G>A (p.Val207Ile)	single nucleotide variant	Inborn genetic diseases [RCV002673966]	Chr16:57702050 [GRCh38] Chr16:57735962 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1814C>T (p.Ala605Val)	single nucleotide variant	Inborn genetic diseases [RCV002748475]	Chr16:57726123 [GRCh38] Chr16:57760035 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2201G>A (p.Arg734His)	single nucleotide variant	Inborn genetic diseases [RCV003195893]	Chr16:57728394 [GRCh38] Chr16:57762306 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1547A>C (p.Tyr516Ser)	single nucleotide variant	Inborn genetic diseases [RCV003202322]	Chr16:57724624 [GRCh38] Chr16:57758536 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1093C>G (p.Leu365Val)	single nucleotide variant	Inborn genetic diseases [RCV003210702]	Chr16:57718362 [GRCh38] Chr16:57752274 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2369T>C (p.Leu790Pro)	single nucleotide variant	Inborn genetic diseases [RCV003212149]	Chr16:57728562 [GRCh38] Chr16:57762474 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.749C>T (p.Pro250Leu)	single nucleotide variant	Inborn genetic diseases [RCV003212328]	Chr16:57704925 [GRCh38] Chr16:57738837 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.577C>T (p.Leu193Phe)	single nucleotide variant	Inborn genetic diseases [RCV003285272]	Chr16:57702008 [GRCh38] Chr16:57735920 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.323T>C (p.Leu108Pro)	single nucleotide variant	Inborn genetic diseases [RCV003345304]	Chr16:57698969 [GRCh38] Chr16:57732881 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.2012A>G (p.Gln671Arg)	single nucleotide variant	Inborn genetic diseases [RCV003346086]	Chr16:57726869 [GRCh38] Chr16:57760781 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.335G>A (p.Arg112His)	single nucleotide variant	Inborn genetic diseases [RCV003383092]	Chr16:57698981 [GRCh38] Chr16:57732893 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1317T>G (p.Ile439Met)	single nucleotide variant	Inborn genetic diseases [RCV003366450]	Chr16:57722750 [GRCh38] Chr16:57756662 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.801G>T (p.Gln267His)	single nucleotide variant	Inborn genetic diseases [RCV003383784]	Chr16:57704977 [GRCh38] Chr16:57738889 [GRCh37] Chr16:16q21	uncertain significance
NM_001289162.2(DRC7):c.1747C>T (p.Arg583Trp)	single nucleotide variant	not provided [RCV003419342]	Chr16:57724824 [GRCh38] Chr16:57758736 [GRCh37] Chr16:16q21	likely benign
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	copy number loss	not specified [RCV003987196]	Chr16:55329260..67180113 [GRCh37] Chr16:16q12.2-22.1	pathogenic
NM_001289162.2(DRC7):c.112C>T (p.Arg38Trp)	single nucleotide variant	Inborn genetic diseases [RCV003345023]	Chr16:57698061 [GRCh38] Chr16:57731973 [GRCh37] Chr16:16q21	uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	copy number gain	not provided [RCV002472562]	Chr16:46503573..62203182 [GRCh37] Chr16:16q11.2-21	pathogenic
NM_001289162.2(DRC7):c.2224C>T (p.Arg742Trp)	single nucleotide variant	Inborn genetic diseases [RCV003359375]	Chr16:57728417 [GRCh38] Chr16:57762329 [GRCh37] Chr16:16q21	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2877
Count of miRNA genes:	843
Interacting mature miRNAs:	995
Transcripts:	ENST00000336825, ENST00000360716, ENST00000394337, ENST00000562250, ENST00000563126, ENST00000564132, ENST00000564297, ENST00000565609, ENST00000569167, ENST00000569375
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

RH98935

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	57,765,104 - 57,765,241	UniSTS	GRCh37
Build 36	16	56,322,605 - 56,322,742	RGD	NCBI36
Celera	16	42,262,413 - 42,262,550	RGD
Cytogenetic Map	16	q21	UniSTS
HuRef	16	43,632,033 - 43,632,170	UniSTS
GeneMap99-GB4 RH Map	16	373.19	UniSTS

MARC_14789-14790:1010672522:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	57,732,907 - 57,734,103	UniSTS	GRCh37
Build 36	16	56,290,408 - 56,291,604	RGD	NCBI36
Celera	16	42,228,943 - 42,230,139	RGD
HuRef	16	43,600,505 - 43,601,701	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

High

Medium

376

Low

287

350

357

1103

140

189

387

Below cutoff

1721

1753

1213

475

1249

360

2449

1124

2510

171

695

969

119

865

1573

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001289162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011523377	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011523378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054314152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054314153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054314154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054314155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054314156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054314157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC018552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136907	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030661	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB093780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB095284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000336825 ⟹ ENSP00000338938

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,836 - 57,731,454 (+)	Ensembl

RefSeq Acc Id:

ENST00000360716 ⟹ ENSP00000353942

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,806 - 57,731,805 (+)	Ensembl

RefSeq Acc Id:

ENST00000394337 ⟹ ENSP00000377869

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,806 - 57,731,455 (+)	Ensembl

RefSeq Acc Id:

ENST00000562250 ⟹ ENSP00000456323

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,721,692 - 57,731,805 (+)	Ensembl

RefSeq Acc Id:

ENST00000563126 ⟹ ENSP00000457676

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,811 - 57,700,267 (+)	Ensembl

RefSeq Acc Id:

ENST00000564132 ⟹ ENSP00000456374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,704,907 - 57,707,861 (+)	Ensembl

RefSeq Acc Id:

ENST00000564297 ⟹ ENSP00000454722

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,817 - 57,702,032 (+)	Ensembl

RefSeq Acc Id:

ENST00000565609

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,725,474 - 57,731,453 (+)	Ensembl

RefSeq Acc Id:

ENST00000569167 ⟹ ENSP00000455994

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,801 - 57,702,001 (+)	Ensembl

RefSeq Acc Id:

ENST00000569375 ⟹ ENSP00000456441

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	57,694,793 - 57,698,928 (+)	Ensembl

RefSeq Acc Id:

NM_001289162 ⟹ NP_001276091

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI
HuRef	16	43,596,311 - 43,632,296 (+)	NCBI
CHM1_1	16	59,134,320 - 59,172,147 (+)	NCBI
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

Sequence:

show sequence

GTTACCATGGAGATGGCTAACAGCTAGAGCAGGCTGTCCTCGGAGGGAACCGGGTCACATCGCA
GGGCCACCTCTAGCTGCAAGAGAATCTGGGAAGCTGAGCAATTCAAACCAGGCACACTGCTGCC
CCCCACACAACTGGGGTTCTGCCGTATAGAAGAGGAGACTGGATCTTTGGAGACATTCCATCTC
CAGACACCCAGAGACGCTCCAGAATGGAGGTCCTGAGGGAGAAGGTGGAGGAGGAGGAGGAGGC
CGAGCGGGAGGAGGCGGCCGAGTGGGCTGAATGGGCGAGGATGGAGAAAATGATGAGGCCAGTT
GAGGTGCGGAAGGAGGAAATCACCTTAAAGCAGGAGACGCTCAGAGACCTGGAGAAGAAGCTGT
CAGAGATCCAGATCACTGTCTCAGCGGAGCTCCCGGCCTTTACCAAGGACACTATTGACATCTC
CAAGCTGCCCATTTCCTACAAAACCAACACACCCAAGGAGGAACACCTGCTGCAGGTGGCAGAC
AACTTCTCCCGCCAGTACAGCCATCTGTGCCCGGACCGCGTGCCCCTCTTCCTGCACCCCCTGA
ACGAGTGTGAAGTGCCCAAGTTCGTGAGCACAACCCTCCGGCCCACACTGATGCCCTACCCCGA
GCTCTACAACTGGGACAGCTGTGCCCAGTTTGTCTCCGACTTCCTCACCATGGTGCCCCTGCCT
GACCCTCTCAAGCCGCCCTCGCACCTGTACTCCTCGACCACTGTGCTCAAGTACCAGAAGGGGA
ACTGCTTTGACTTCAGTACGCTGCTCTGCTCCATGCTTATCGGCTCTGGCTATGATGCTTACTG
CGTCAACGGCTACGGCTCGCTGGACCTGTGCCACATGGACCTGACGCGGGAGGTGTGCCCACTC
ACTGTGAAGCCCAAGGAGACCATCAAGAAGGAGGAAAAGGTGCTGCCTAAGAAGTATACCATCA
AACCCCCCAGGGACCTGTGCAGCAGGTTTGAGCAGGAGCAAGAGGTGAAGAAGCAGCAGGAGAT
CAGAGCCCAGGAGAAGAAGCGGCTGAGGGAGGAGGAGGAGCGCCTCATGGAAGCGGAGAAGGCA
AAGCCGGATGCCCTGCACGGCCTGCGGGTGCACTCCTGGGTCCTTGTGCTATCGGGGAAGCGCG
AGGTGCCTGAGAACTTCTTCATCGACCCATTCACAGGACATAGCTACAGCACCCAGGATGAGCA
CTTCCTGGGCATCGAAAGCCTGTGGAACCACAAGAACTACTGGATCAACATGCAGGATTGCTGG
AACTGCTGCAAGGACTTGATCTTTGACCTGGGTGACCCTGTGAGATGGGAGTACATGCTCCTGG
GGACTGATAAGTCTCAGCTGTCCTTGACTGAAGAAGACGACAGTGGGATAAACGATGAGGATGA
TGTGGAAAATCTGGGCAAGGAGGATGAGGATAAGAGCTTCGACATGCCCCACTCGTGGGTGGAG
CAGATTGAGATCTCCCCGGAAGCATTTGAGACCCGCTGCCCGAACGGGAAGAAGGTGATTCAGT
ACAAGAGGGCAAAGCTGGAGAAGTGGGCCCCGTACCTCAATAGCAATGGCCTTGTGAGCCGCCT
CACCACCTATGAGGACTTGCAGTGTACCAATATTTTGGAGATAAAGGAGTGGTACCAGAACCGG
GAAGACATGCTGGAGCTGAAACACATAAACAAGACCACAGACCTGAAGACAGACTACTTCAAGC
CTGGCCACCCCCAGGCTCTGCGCGTGCACTCGTACAAGTCCATGCAACCTGAGATGGACCGTGT
CATTGAGTTTTATGAAACGGCCCGTGTGGATGGCCTGATGAAGCGGGAGGAGACACCCAGGACA
ATGACAGAGTACTATCAAGGACGCCCAGACTTCCTCTCCTACCGCCATGCCAGCTTCGGACCCC
GAGTCAAGAAGCTCACTCTGAGCAGTGCAGAGTCAAACCCCCGGCCCATTGTGAAAATCACAGA
GCGGTTCTTCCGCAACCCAGCGAAGCCCGCGGAGGAGGACGTGGCAGAGCGCGTGTTTCTGGTC
GCGGAGGAGCGCATCCAGCTGCGCTACCACTGCCGTGAGGACCACATCACGGCCTCCAAGCGCG
AGTTCCTGCGGCGCACCGAGGTGGACAGCAAAGGCAACAAGATCATCATGACGCCCGACATGTG
CATCAGCTTCGAGGTGGAGCCCATGGAGCACACCAAGAAGCTGCTCTACCAGTACGAGGCCATG
ATGCACCTGAAGAGGGAGGAGAAGCTGTCCAGACATCAGGTCTGGGAGTCAGAGCTGGAGGTGC
TGGAGATTCTGAAGCTTCGAGAGGAAGAGGAGGCGGCGCACACACTGACCATCTCCATCTATGA
CACCAAGCGGAATGAGAAGAGCAAGGAATATCGGGAGGCCATGGAGCGCATGATGCACGAAGAG
CACCTGCGGCAGGTGGAGACCCAGCTGGACTACCTGGCCCCATTCCTGGCCCAGCTCCCGCCAG
GAGAGAAACTAACATGCTGGCAGGCGGTGCGCCTCAAGGATGAGTGCCTCAGCGACTTCAAGCA
GCGGCTCATCAACAAGGCCAACCTCATCCAGGCCCGCTTTGAGAAGGAGACCCAGGAGCTGCAA
AAGAAGCAGCAGTGGTACCAGGAGAACCAGGTGACGCTGACACCCGAGGATGAAGACCTGTACC
TGAGTTACTGCTCTCAGGCCATGTTCCGCATCCGCATCCTGGAGCAGCGCCTCAATCGACACAA
GGAACTGGCCCCACTGAAGTACCTGGCTCTGGAGGAAAAGCTCTACAAGGACCCACGCCTGGGG
GAGCTCCAGAAAATATTCGCTTGATGTCCCTCCTGGGGCCTCAGCCAGAGCTGCCAGAGAAAGG
AAACCTCTTCCCGCAGCCTGGCTCCTGTGTTCCCTCTATCCAGCCAATGCCTGTTTACACAGAC
ACCTGGCCTCACTGCCAGCCCACCTCCCCTACAGCCCTGTTTGTTCCTGCTTCTCATGATTTTC
CTGTAAATAAACACACTCTTAATTTGCCATTTGTGCCTTGCGCTTCACAAGCTCCAGCAGCAGC
CTTTCTCTTCTTCTGTTATCTATAGCCTGGGACCACCCCCTTCCTCCCCTTGGCCTGTCGTTTG
CTTCCTGTCCTTCTCTCCGTTGGAATGTCAGGTCTTCACAGCACCTCTGCAGATGGTCCCACAG
CCATCTGCAAACAACTGGTTATATCTCAATGTGACTAGGGTGGCCCACCTCACCAAGTGGGATG
GGGAAGGCTAAGATGCATGCCCCAGAATTTGAGGACTGAATCCCAGCTCCTCCTCTTACCAGAT
ACCACTTACCCATCTGTGGAATGGGGTAGCATTGTTGCATTAAATAAGACTTATGGCCA

hide sequence

RefSeq Acc Id:

NM_001289163 ⟹ NP_001276092

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI
HuRef	16	43,596,311 - 43,632,296 (+)	NCBI
CHM1_1	16	59,134,320 - 59,172,147 (+)	NCBI
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

Sequence:

show sequence

GTTACCATGGAGATGGCTAACAGCTAGAGCAGGCTGTCCTCGGAGGGAGACATTCCATCTCCAG
ACACCCAGAGACGCTCCAGAATGGAGGTCCTGAGGGAGAAGGTGGAGGAGGAGGAGGAGGCCGA
GCGGGAGGAGGCGGCCGAGTGGGCTGAATGGGCGAGGATGGAGAAAATGATGAGGCCAGTTGAG
GTGCGGAAGGAGGAAATCACCTTAAAGCAGGAGACGCTCAGAGACCTGGAGAAGAAGCTGTCAG
AGATCCAGATCACTGTCTCAGCGGAGCTCCCGGCCTTTACCAAGGACACTATTGACATCTCCAA
GCTGCCCATTTCCTACAAAACCAACACACCCAAGGAGGAACACCTGCTGCAGGTGGCAGACAAC
TTCTCCCGCCAGTACAGCCATCTGTGCCCGGACCGCGTGCCCCTCTTCCTGCACCCCCTGAACG
AGTGTGAAGTGCCCAAGTTCGTGAGCACAACCCTCCGGCCCACACTGATGCCCTACCCCGAGCT
CTACAACTGGGACAGCTGTGCCCAGTTTGTCTCCGACTTCCTCACCATGGTGCCCCTGCCTGAC
CCTCTCAAGCCGACCATCAAGAAGGAGGAAAAGGTGCTGCCTAAGAAGTATACCATCAAACCCC
CCAGGGACCTGTGCAGCAGGTTTGAGCAGGAGCAAGAGGTGAAGAAGCAGCAGGAGATCAGAGC
CCAGGAGAAGAAGCGGCTGAGGGAGGAGGAGGAGCGCCTCATGGAAGCGGAGAAGGCAAAGCCG
GATGCCCTGCACGGCCTGCGGGTGCACTCCTGGGTCCTTGTGCTATCGGGGAAGCGCGAGGTGC
CTGAGAACTTCTTCATCGACCCATTCACAGGACATAGCTACAGCACCCAGGATGAGCACTTCCT
GGGCATCGAAAGCCTGTGGAACCACAAGAACTACTGGATCAACATGCAGGATTGCTGGAACTGC
TGCAAGGACTTGATCTTTGACCTGGGTGACCCTGTGAGATGGGAGTACATGCTCCTGGGGACTG
ATAAGTCTCAGCTGTCCTTGACTGAAGAAGACGACAGTGGGATAAACGATGAGGATGATGTGGA
AAATCTGGGCAAGGAGGATGAGGATAAGAGCTTCGACATGCCCCACTCGTGGGTGGAGCAGATT
GAGATCTCCCCGGAAGCATTTGAGACCCGCTGCCCGAACGGGAAGAAGGTGATTCAGTACAAGA
GGGCAAAGCTGGAGAAGTGGGCCCCGTACCTCAATAGCAATGGCCTTGTGAGCCGCCTCACCAC
CTATGAGGACTTGCAGTGTACCAATATTTTGGAGATAAAGGAGTGGTACCAGAACCGGGAAGAC
ATGCTGGAGCTGAAACACATAAACAAGACCACAGACCTGAAGACAGACTACTTCAAGCCTGGCC
ACCCCCAGGCTCTGCGCGTGCACTCGTACAAGTCCATGCAACCTGAGATGGACCGTGTCATTGA
GTTTTATGAAACGGCCCGTGTGGATGGCCTGATGAAGCGGGAGGAGACACCCAGGACAATGACA
GAGTACTATCAAGGACGCCCAGACTTCCTCTCCTACCGCCATGCCAGCTTCGGACCCCGAGTCA
AGAAGCTCACTCTGAGCAGTGCAGAGTCAAACCCCCGGCCCATTGTGAAAATCACAGAGCGGTT
CTTCCGCAACCCAGCGAAGCCCGCGGAGGAGGACGTGGCAGAGCGCGTGTTTCTGGTCGCGGAG
GAGCGCATCCAGCTGCGCTACCACTGCCGTGAGGACCACATCACGGCCTCCAAGCGCGAGTTCC
TGCGGCGCACCGAGGTGGACAGCAAAGGCAACAAGATCATCATGACGCCCGACATGTGCATCAG
CTTCGAGGTGGAGCCCATGGAGCACACCAAGAAGCTGCTCTACCAGTACGAGGCCATGATGCAC
CTGAAGAGGGAGGAGAAGCTGTCCAGACATCAGGTCTGGGAGTCAGAGCTGGAGGTGCTGGAGA
TTCTGAAGCTTCGAGAGGAAGAGGAGGCGGCGCACACACTGACCATCTCCATCTATGACACCAA
GCGGAATGAGAAGAGCAAGGAATATCGGGAGGCCATGGAGCGCATGATGCACGAAGAGCACCTG
CGGCAGGTGGAGACCCAGCTGGACTACCTGGCCCCATTCCTGGCCCAGCTCCCGCCAGGAGAGA
AACTAACATGCTGGCAGGCGGTGCGCCTCAAGGATGAGTGCCTCAGCGACTTCAAGCAGCGGCT
CATCAACAAGGCCAACCTCATCCAGGCCCGCTTTGAGAAGGAGACCCAGGAGCTGCAAAAGAAG
CAGCAGTGGTACCAGGAGAACCAGGTGACGCTGACACCCGAGGATGAAGACCTGTACCTGAGTT
ACTGCTCTCAGGCCATGTTCCGCATCCGCATCCTGGAGCAGCGCCTCAATCGACACAAGGAACT
GGCCCCACTGAAGTACCTGGCTCTGGAGGAAAAGCTCTACAAGGACCCACGCCTGGGGGAGCTC
CAGAAAATATTCGCTTGATGTCCCTCCTGGGGCCTCAGCCAGAGCTGCCAGAGAAAGGAAACCT
CTTCCCGCAGCCTGGCTCCTGTGTTCCCTCTATCCAGCCAATGCCTGTTTACACAGACACCTGG
CCTCACTGCCAGCCCACCTCCCCTACAGCCCTGTTTGTTCCTGCTTCTCATGATTTTCCTGTAA
ATAAACACACTCTTAATTTGCCATTTGTGCCTTGCGCTTCACAAGCTCCAGCAGCAGCCTTTCT
CTTCTTCTGTTATCTATAGCCTGGGACCACCCCCTTCCTCCCCTTGGCCTGTCGTTTGCTTCCT
GTCCTTCTCTCCGTTGGAATGTCAGGTCTTCACAGCACCTCTGCAGATGGTCCCACAGCCATCT
GCAAACAACTGGTTATATCTCAATGTGACTAGGGTGGCCCACCTCACCAAGTGGGATGGGGAAG
GCTAAGATGCATGCCCCAGAATTTGAGGACTGAATCCCAGCTCCTCCTCTTACCAGATACCACT
TACCCATCTGTGGAATGGGGTAGCATTGTTGCATTAAATAAGACTTATGGCCA

hide sequence

RefSeq Acc Id:

NM_032269 ⟹ NP_115645

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI
GRCh37	16	57,728,713 - 57,765,367 (+)	RGD
Build 36	16	56,286,227 - 56,322,868 (+)	NCBI Archive
Celera	16	42,224,749 - 42,262,676 (+)	RGD
HuRef	16	43,596,311 - 43,632,296 (+)	RGD
CHM1_1	16	59,134,320 - 59,172,147 (+)	NCBI
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

Sequence:

show sequence

GTTACCATGGAGATGGCTAACAGCTAGAGCAGGCTGTCCTCGGAGGGAGACATTCCATCTCCAG
ACACCCAGAGACGCTCCAGAATGGAGGTCCTGAGGGAGAAGGTGGAGGAGGAGGAGGAGGCCGA
GCGGGAGGAGGCGGCCGAGTGGGCTGAATGGGCGAGGATGGAGAAAATGATGAGGCCAGTTGAG
GTGCGGAAGGAGGAAATCACCTTAAAGCAGGAGACGCTCAGAGACCTGGAGAAGAAGCTGTCAG
AGATCCAGATCACTGTCTCAGCGGAGCTCCCGGCCTTTACCAAGGACACTATTGACATCTCCAA
GCTGCCCATTTCCTACAAAACCAACACACCCAAGGAGGAACACCTGCTGCAGGTGGCAGACAAC
TTCTCCCGCCAGTACAGCCATCTGTGCCCGGACCGCGTGCCCCTCTTCCTGCACCCCCTGAACG
AGTGTGAAGTGCCCAAGTTCGTGAGCACAACCCTCCGGCCCACACTGATGCCCTACCCCGAGCT
CTACAACTGGGACAGCTGTGCCCAGTTTGTCTCCGACTTCCTCACCATGGTGCCCCTGCCTGAC
CCTCTCAAGCCGCCCTCGCACCTGTACTCCTCGACCACTGTGCTCAAGTACCAGAAGGGGAACT
GCTTTGACTTCAGTACGCTGCTCTGCTCCATGCTTATCGGCTCTGGCTATGATGCTTACTGCGT
CAACGGCTACGGCTCGCTGGACCTGTGCCACATGGACCTGACGCGGGAGGTGTGCCCACTCACT
GTGAAGCCCAAGGAGACCATCAAGAAGGAGGAAAAGGTGCTGCCTAAGAAGTATACCATCAAAC
CCCCCAGGGACCTGTGCAGCAGGTTTGAGCAGGAGCAAGAGGTGAAGAAGCAGCAGGAGATCAG
AGCCCAGGAGAAGAAGCGGCTGAGGGAGGAGGAGGAGCGCCTCATGGAAGCGGAGAAGGCAAAG
CCGGATGCCCTGCACGGCCTGCGGGTGCACTCCTGGGTCCTTGTGCTATCGGGGAAGCGCGAGG
TGCCTGAGAACTTCTTCATCGACCCATTCACAGGACATAGCTACAGCACCCAGGATGAGCACTT
CCTGGGCATCGAAAGCCTGTGGAACCACAAGAACTACTGGATCAACATGCAGGATTGCTGGAAC
TGCTGCAAGGACTTGATCTTTGACCTGGGTGACCCTGTGAGATGGGAGTACATGCTCCTGGGGA
CTGATAAGTCTCAGCTGTCCTTGACTGAAGAAGACGACAGTGGGATAAACGATGAGGATGATGT
GGAAAATCTGGGCAAGGAGGATGAGGATAAGAGCTTCGACATGCCCCACTCGTGGGTGGAGCAG
ATTGAGATCTCCCCGGAAGCATTTGAGACCCGCTGCCCGAACGGGAAGAAGGTGATTCAGTACA
AGAGGGCAAAGCTGGAGAAGTGGGCCCCGTACCTCAATAGCAATGGCCTTGTGAGCCGCCTCAC
CACCTATGAGGACTTGCAGTGTACCAATATTTTGGAGATAAAGGAGTGGTACCAGAACCGGGAA
GACATGCTGGAGCTGAAACACATAAACAAGACCACAGACCTGAAGACAGACTACTTCAAGCCTG
GCCACCCCCAGGCTCTGCGCGTGCACTCGTACAAGTCCATGCAACCTGAGATGGACCGTGTCAT
TGAGTTTTATGAAACGGCCCGTGTGGATGGCCTGATGAAGCGGGAGGAGACACCCAGGACAATG
ACAGAGTACTATCAAGGACGCCCAGACTTCCTCTCCTACCGCCATGCCAGCTTCGGACCCCGAG
TCAAGAAGCTCACTCTGAGCAGTGCAGAGTCAAACCCCCGGCCCATTGTGAAAATCACAGAGCG
GTTCTTCCGCAACCCAGCGAAGCCCGCGGAGGAGGACGTGGCAGAGCGCGTGTTTCTGGTCGCG
GAGGAGCGCATCCAGCTGCGCTACCACTGCCGTGAGGACCACATCACGGCCTCCAAGCGCGAGT
TCCTGCGGCGCACCGAGGTGGACAGCAAAGGCAACAAGATCATCATGACGCCCGACATGTGCAT
CAGCTTCGAGGTGGAGCCCATGGAGCACACCAAGAAGCTGCTCTACCAGTACGAGGCCATGATG
CACCTGAAGAGGGAGGAGAAGCTGTCCAGACATCAGGTCTGGGAGTCAGAGCTGGAGGTGCTGG
AGATTCTGAAGCTTCGAGAGGAAGAGGAGGCGGCGCACACACTGACCATCTCCATCTATGACAC
CAAGCGGAATGAGAAGAGCAAGGAATATCGGGAGGCCATGGAGCGCATGATGCACGAAGAGCAC
CTGCGGCAGGTGGAGACCCAGCTGGACTACCTGGCCCCATTCCTGGCCCAGCTCCCGCCAGGAG
AGAAACTAACATGCTGGCAGGCGGTGCGCCTCAAGGATGAGTGCCTCAGCGACTTCAAGCAGCG
GCTCATCAACAAGGCCAACCTCATCCAGGCCCGCTTTGAGAAGGAGACCCAGGAGCTGCAAAAG
AAGCAGCAGTGGTACCAGGAGAACCAGGTGACGCTGACACCCGAGGATGAAGACCTGTACCTGA
GTTACTGCTCTCAGGCCATGTTCCGCATCCGCATCCTGGAGCAGCGCCTCAATCGACACAAGGA
ACTGGCCCCACTGAAGTACCTGGCTCTGGAGGAAAAGCTCTACAAGGACCCACGCCTGGGGGAG
CTCCAGAAAATATTCGCTTGATGTCCCTCCTGGGGCCTCAGCCAGAGCTGCCAGAGAAAGGAAA
CCTCTTCCCGCAGCCTGGCTCCTGTGTTCCCTCTATCCAGCCAATGCCTGTTTACACAGACACC
TGGCCTCACTGCCAGCCCACCTCCCCTACAGCCCTGTTTGTTCCTGCTTCTCATGATTTTCCTG
TAAATAAACACACTCTTAATTTGCCATTTGTGCCTTGCGCTTCACAAGCTCCAGCAGCAGCCTT
TCTCTTCTTCTGTTATCTATAGCCTGGGACCACCCCCTTCCTCCCCTTGGCCTGTCGTTTGCTT
CCTGTCCTTCTCTCCGTTGGAATGTCAGGTCTTCACAGCACCTCTGCAGATGGTCCCACAGCCA
TCTGCAAACAACTGGTTATATCTCAATGTGACTAGGGTGGCCCACCTCACCAAGTGGGATGGGG
AAGGCTAAGATGCATGCCCCAGAATTTGAGGACTGAATCCCAGCTCCTCCTCTTACCAGATACC
ACTTACCCATCTGTGGAATGGGGTAGCATTGTTGCATTAAATAAGACTTATGGCCA

hide sequence

RefSeq Acc Id:

XM_047434768 ⟹ XP_047290724

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI

RefSeq Acc Id:

XM_047434769 ⟹ XP_047290725

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI

RefSeq Acc Id:

XM_047434770 ⟹ XP_047290726

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI

RefSeq Acc Id:

XM_047434771 ⟹ XP_047290727

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI

RefSeq Acc Id:

XM_047434772 ⟹ XP_047290728

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,694,806 - 57,731,805 (+)	NCBI

RefSeq Acc Id:

XM_047434773 ⟹ XP_047290729

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	57,704,443 - 57,731,805 (+)	NCBI

RefSeq Acc Id:

XM_054314152 ⟹ XP_054170127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

RefSeq Acc Id:

XM_054314153 ⟹ XP_054170128

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

RefSeq Acc Id:

XM_054314154 ⟹ XP_054170129

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

RefSeq Acc Id:

XM_054314155 ⟹ XP_054170130

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

RefSeq Acc Id:

XM_054314156 ⟹ XP_054170131

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	63,490,013 - 63,527,011 (+)	NCBI

RefSeq Acc Id:

XM_054314157 ⟹ XP_054170132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	63,499,649 - 63,527,011 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001276091	(Get FASTA)	NCBI Sequence Viewer
	NP_001276092	(Get FASTA)	NCBI Sequence Viewer
	NP_115645	(Get FASTA)	NCBI Sequence Viewer
	XP_047290724	(Get FASTA)	NCBI Sequence Viewer
	XP_047290725	(Get FASTA)	NCBI Sequence Viewer
	XP_047290726	(Get FASTA)	NCBI Sequence Viewer
	XP_047290727	(Get FASTA)	NCBI Sequence Viewer
	XP_047290728	(Get FASTA)	NCBI Sequence Viewer
	XP_047290729	(Get FASTA)	NCBI Sequence Viewer
	XP_054170127	(Get FASTA)	NCBI Sequence Viewer
	XP_054170128	(Get FASTA)	NCBI Sequence Viewer
	XP_054170129	(Get FASTA)	NCBI Sequence Viewer
	XP_054170130	(Get FASTA)	NCBI Sequence Viewer
	XP_054170131	(Get FASTA)	NCBI Sequence Viewer
	XP_054170132	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH36667	(Get FASTA)	NCBI Sequence Viewer
	BAC04026	(Get FASTA)	NCBI Sequence Viewer
	BAF85247	(Get FASTA)	NCBI Sequence Viewer
	CAB66841	(Get FASTA)	NCBI Sequence Viewer
	EAW82947	(Get FASTA)	NCBI Sequence Viewer
	EAW82948	(Get FASTA)	NCBI Sequence Viewer
	EAW82949	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000338938
	ENSP00000338938.8
	ENSP00000353942
	ENSP00000353942.3
	ENSP00000377869
	ENSP00000377869.4
	ENSP00000454722.1
	ENSP00000455994.1
	ENSP00000456323.1
	ENSP00000456374.1
	ENSP00000456441.1
	ENSP00000457676.1
GenBank Protein	Q8IY82	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_115645 ⟸ NM_032269
- Peptide Label:	isoform a
- UniProtKB:	Q8NAA0 (UniProtKB/Swiss-Prot), A8K943 (UniProtKB/Swiss-Prot), Q9H080 (UniProtKB/Swiss-Prot), Q8IY82 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVLREKVEEEEEAEREEAAEWAEWARMEKMMRPVEVRKEEITLKQETLRDLEKKLSEIQITVS AELPAFTKDTIDISKLPISYKTNTPKEEHLLQVADNFSRQYSHLCPDRVPLFLHPLNECEVPKF VSTTLRPTLMPYPELYNWDSCAQFVSDFLTMVPLPDPLKPPSHLYSSTTVLKYQKGNCFDFSTL LCSMLIGSGYDAYCVNGYGSLDLCHMDLTREVCPLTVKPKETIKKEEKVLPKKYTIKPPRDLCS RFEQEQEVKKQQEIRAQEKKRLREEEERLMEAEKAKPDALHGLRVHSWVLVLSGKREVPENFFI DPFTGHSYSTQDEHFLGIESLWNHKNYWINMQDCWNCCKDLIFDLGDPVRWEYMLLGTDKSQLS LTEEDDSGINDEDDVENLGKEDEDKSFDMPHSWVEQIEISPEAFETRCPNGKKVIQYKRAKLEK WAPYLNSNGLVSRLTTYEDLQCTNILEIKEWYQNREDMLELKHINKTTDLKTDYFKPGHPQALR VHSYKSMQPEMDRVIEFYETARVDGLMKREETPRTMTEYYQGRPDFLSYRHASFGPRVKKLTLS SAESNPRPIVKITERFFRNPAKPAEEDVAERVFLVAEERIQLRYHCREDHITASKREFLRRTEV DSKGNKIIMTPDMCISFEVEPMEHTKKLLYQYEAMMHLKREEKLSRHQVWESELEVLEILKLRE EEEAAHTLTISIYDTKRNEKSKEYREAMERMMHEEHLRQVETQLDYLAPFLAQLPPGEKLTCWQ AVRLKDECLSDFKQRLINKANLIQARFEKETQELQKKQQWYQENQVTLTPEDEDLYLSYCSQAM FRIRILEQRLNRHKELAPLKYLALEEKLYKDPRLGELQKIFA hide sequence

RefSeq Acc Id:	NP_001276091 ⟸ NM_001289162
- Peptide Label:	isoform a
- UniProtKB:	Q8NAA0 (UniProtKB/Swiss-Prot), A8K943 (UniProtKB/Swiss-Prot), Q9H080 (UniProtKB/Swiss-Prot), Q8IY82 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVLREKVEEEEEAEREEAAEWAEWARMEKMMRPVEVRKEEITLKQETLRDLEKKLSEIQITVS AELPAFTKDTIDISKLPISYKTNTPKEEHLLQVADNFSRQYSHLCPDRVPLFLHPLNECEVPKF VSTTLRPTLMPYPELYNWDSCAQFVSDFLTMVPLPDPLKPPSHLYSSTTVLKYQKGNCFDFSTL LCSMLIGSGYDAYCVNGYGSLDLCHMDLTREVCPLTVKPKETIKKEEKVLPKKYTIKPPRDLCS RFEQEQEVKKQQEIRAQEKKRLREEEERLMEAEKAKPDALHGLRVHSWVLVLSGKREVPENFFI DPFTGHSYSTQDEHFLGIESLWNHKNYWINMQDCWNCCKDLIFDLGDPVRWEYMLLGTDKSQLS LTEEDDSGINDEDDVENLGKEDEDKSFDMPHSWVEQIEISPEAFETRCPNGKKVIQYKRAKLEK WAPYLNSNGLVSRLTTYEDLQCTNILEIKEWYQNREDMLELKHINKTTDLKTDYFKPGHPQALR VHSYKSMQPEMDRVIEFYETARVDGLMKREETPRTMTEYYQGRPDFLSYRHASFGPRVKKLTLS SAESNPRPIVKITERFFRNPAKPAEEDVAERVFLVAEERIQLRYHCREDHITASKREFLRRTEV DSKGNKIIMTPDMCISFEVEPMEHTKKLLYQYEAMMHLKREEKLSRHQVWESELEVLEILKLRE EEEAAHTLTISIYDTKRNEKSKEYREAMERMMHEEHLRQVETQLDYLAPFLAQLPPGEKLTCWQ AVRLKDECLSDFKQRLINKANLIQARFEKETQELQKKQQWYQENQVTLTPEDEDLYLSYCSQAM FRIRILEQRLNRHKELAPLKYLALEEKLYKDPRLGELQKIFA hide sequence

RefSeq Acc Id:	NP_001276092 ⟸ NM_001289163
- Peptide Label:	isoform b
- UniProtKB:	Q8IY82 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVLREKVEEEEEAEREEAAEWAEWARMEKMMRPVEVRKEEITLKQETLRDLEKKLSEIQITVS AELPAFTKDTIDISKLPISYKTNTPKEEHLLQVADNFSRQYSHLCPDRVPLFLHPLNECEVPKF VSTTLRPTLMPYPELYNWDSCAQFVSDFLTMVPLPDPLKPTIKKEEKVLPKKYTIKPPRDLCSR FEQEQEVKKQQEIRAQEKKRLREEEERLMEAEKAKPDALHGLRVHSWVLVLSGKREVPENFFID PFTGHSYSTQDEHFLGIESLWNHKNYWINMQDCWNCCKDLIFDLGDPVRWEYMLLGTDKSQLSL TEEDDSGINDEDDVENLGKEDEDKSFDMPHSWVEQIEISPEAFETRCPNGKKVIQYKRAKLEKW APYLNSNGLVSRLTTYEDLQCTNILEIKEWYQNREDMLELKHINKTTDLKTDYFKPGHPQALRV HSYKSMQPEMDRVIEFYETARVDGLMKREETPRTMTEYYQGRPDFLSYRHASFGPRVKKLTLSS AESNPRPIVKITERFFRNPAKPAEEDVAERVFLVAEERIQLRYHCREDHITASKREFLRRTEVD SKGNKIIMTPDMCISFEVEPMEHTKKLLYQYEAMMHLKREEKLSRHQVWESELEVLEILKLREE EEAAHTLTISIYDTKRNEKSKEYREAMERMMHEEHLRQVETQLDYLAPFLAQLPPGEKLTCWQA VRLKDECLSDFKQRLINKANLIQARFEKETQELQKKQQWYQENQVTLTPEDEDLYLSYCSQAMF RIRILEQRLNRHKELAPLKYLALEEKLYKDPRLGELQKIFA hide sequence

RefSeq Acc Id:

ENSP00000353942 ⟸ ENST00000360716

RefSeq Acc Id:

ENSP00000338938 ⟸ ENST00000336825

RefSeq Acc Id:

ENSP00000456323 ⟸ ENST00000562250

RefSeq Acc Id:

ENSP00000457676 ⟸ ENST00000563126

RefSeq Acc Id:

ENSP00000454722 ⟸ ENST00000564297

RefSeq Acc Id:

ENSP00000456374 ⟸ ENST00000564132

RefSeq Acc Id:

ENSP00000377869 ⟸ ENST00000394337

RefSeq Acc Id:

ENSP00000456441 ⟸ ENST00000569375

RefSeq Acc Id:

ENSP00000455994 ⟸ ENST00000569167

RefSeq Acc Id:	XP_047290724 ⟸ XM_047434768
- Peptide Label:	isoform X1
- UniProtKB:	Q8NAA0 (UniProtKB/Swiss-Prot), Q8IY82 (UniProtKB/Swiss-Prot), A8K943 (UniProtKB/Swiss-Prot), Q9H080 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047290726 ⟸ XM_047434770
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047290727 ⟸ XM_047434771
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_047290728 ⟸ XM_047434772
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_047290725 ⟸ XM_047434769
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047290729 ⟸ XM_047434773
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054170127 ⟸ XM_054314152
- Peptide Label:	isoform X1
- UniProtKB:	Q8NAA0 (UniProtKB/Swiss-Prot), Q8IY82 (UniProtKB/Swiss-Prot), A8K943 (UniProtKB/Swiss-Prot), Q9H080 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054170129 ⟸ XM_054314154
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054170130 ⟸ XM_054314155
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054170131 ⟸ XM_054314156
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054170128 ⟸ XM_054314153
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054170132 ⟸ XM_054314157
- Peptide Label:	isoform X5

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IY82-F1-model_v2	AlphaFold	Q8IY82	1-874	view protein structure

Promoters

RGD ID:

6792889

Promoter ID:

HG_KWN:23913

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, NB4

Transcripts:

ENST00000360716, UC002EMI.1, UC002EMK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	56,286,184 - 56,286,684 (+)	MPROMDB

RGD ID:

7232359

Promoter ID:

EPDNEW_H21924

Type:

initiation region

Name:

DRC7_1

Description:

dynein regulatory complex subunit 7

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	16	57,694,809 - 57,694,869	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25289	AgrOrtholog
COSMIC	DRC7	COSMIC
Ensembl Genes	ENSG00000159625	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000336825	ENTREZGENE
	ENST00000336825.12	UniProtKB/Swiss-Prot
	ENST00000360716	ENTREZGENE
	ENST00000360716.8	UniProtKB/Swiss-Prot
	ENST00000394337	ENTREZGENE
	ENST00000394337.8	UniProtKB/Swiss-Prot
	ENST00000562250.1	UniProtKB/TrEMBL
	ENST00000563126.5	UniProtKB/TrEMBL
	ENST00000564132.1	UniProtKB/TrEMBL
	ENST00000564297.5	UniProtKB/TrEMBL
	ENST00000569167.1	UniProtKB/TrEMBL
	ENST00000569375.5	UniProtKB/TrEMBL
GTEx	ENSG00000159625	GTEx
HGNC ID	HGNC:25289	ENTREZGENE
Human Proteome Map	DRC7	Human Proteome Map
InterPro	DRC7/lobo	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Papain-like_cys_pep_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:84229	UniProtKB/Swiss-Prot
NCBI Gene	84229	ENTREZGENE
OMIM	618769	OMIM
PANTHER	DYNEIN REGULATORY COMPLEX SUBUNIT 7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR35249	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162381380	PharmGKB
Superfamily-SCOP	SSF54001	UniProtKB/Swiss-Prot
UniProt	A8K943	ENTREZGENE
	DRC7_HUMAN	UniProtKB/Swiss-Prot
	H3BN79_HUMAN	UniProtKB/TrEMBL
	H3BQY5_HUMAN	UniProtKB/TrEMBL
	H3BRN2_HUMAN	UniProtKB/TrEMBL
	H3BRR8_HUMAN	UniProtKB/TrEMBL
	H3BRX1_HUMAN	UniProtKB/TrEMBL
	H3BUK0_HUMAN	UniProtKB/TrEMBL
	Q8IY82	ENTREZGENE
	Q8NAA0	ENTREZGENE
	Q9H080	ENTREZGENE
UniProt Secondary	A8K943	UniProtKB/Swiss-Prot
	Q8NAA0	UniProtKB/Swiss-Prot
	Q9H080	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-09-10	DRC7	dynein regulatory complex subunit 7	CCDC135	coiled-coil domain containing 135	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar