DNAJC11 (DnaJ heat shock protein family (Hsp40) member C11)

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Gene: DNAJC11 (DnaJ heat shock protein family (Hsp40) member C11) Homo sapiens

Analyze

Symbol:

DNAJC11

Name:

DnaJ heat shock protein family (Hsp40) member C11

RGD ID:

1317094

HGNC Page

HGNC:25570

Description:

Involved in cristae formation. Located in MICOS complex; SAM complex; and nuclear speck. Part of MIB complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

dJ126A5.1; DnaJ (Hsp40) homolog, subfamily C, member 11; dnaJ homolog subfamily C member 11; FLJ10737; novel DnaJ domain-containing protein; RP1-126A5.3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	6,634,170 - 6,701,816 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	6,634,168 - 6,701,924 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	6,694,230 - 6,761,876 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	6,616,818 - 6,684,460 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	6,628,496 - 6,696,139	NCBI
Celera	1	5,808,085 - 5,875,829 (-)	NCBI		Celera
Cytogenetic Map	1	p36.31	NCBI
HuRef	1	5,841,691 - 5,909,280 (-)	NCBI		HuRef
CHM1_1	1	6,682,946 - 6,750,670 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	6,159,834 - 6,227,482 (-)	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

chromosome 1p36 deletion syndrome (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

4,4'-sulfonyldiphenol (EXP)

4-amino-2,6-dinitrotoluene (ISO)

all-trans-retinoic acid (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Brodifacoum (ISO)

butanal (EXP)

cadmium dichloride (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

choline (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

cylindrospermopsin (EXP)

dibutyl phthalate (ISO)

diclofenac (EXP)

dicrotophos (EXP)

dioxygen (ISO)

epoxiconazole (ISO)

flutamide (ISO)

folic acid (ISO)

gentamycin (ISO)

ivermectin (EXP)

L-methionine (ISO)

methidathion (ISO)

methyl methanesulfonate (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctanoic acid (EXP)

pirinixic acid (ISO)

potassium dichromate (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP)

thiram (EXP)

titanium dioxide (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

urethane (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cristae formation (IBA,IEA,IMP)

inner mitochondrial membrane organization (IC)

Cellular Component

membrane (IEA)

MIB complex (HDA)

MICOS complex (IDA)

mitochondrial outer membrane (IEA,IMP)

mitochondrion (HTP,IDA,IEA)

nuclear speck (IDA)

nucleoplasm (IDA)

SAM complex (HDA,IDA)

Molecular Function

protein binding (IPI)

References

References - curated

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

Additional References at PubMed

PMID:8619474	PMID:9110174	PMID:12477932	PMID:12964007	PMID:14702039	PMID:15489334	PMID:16710414	PMID:17207965	PMID:17222547	PMID:17500595	PMID:17624330	PMID:19808946
PMID:20877624	PMID:21873635	PMID:21900206	PMID:22114354	PMID:22268729	PMID:23376485	PMID:24255178	PMID:24797263	PMID:25111180	PMID:25921289	PMID:25997101	PMID:26186194
PMID:26477565	PMID:26496610	PMID:26638075	PMID:26673895	PMID:26972000	PMID:27025967	PMID:27034005	PMID:27499296	PMID:27684187	PMID:28057766	PMID:28514442	PMID:28675297
PMID:28846114	PMID:28883622	PMID:28902428	PMID:29117863	PMID:29509794	PMID:29568061	PMID:30154076	PMID:30463901	PMID:30669930	PMID:30948266	PMID:31073040	PMID:31091453
PMID:31527615	PMID:31536960	PMID:31586073	PMID:31617661	PMID:31678930	PMID:32203420	PMID:32296183	PMID:32353859	PMID:32457219	PMID:32628020	PMID:32707033	PMID:32807901
PMID:32838362	PMID:32877691	PMID:33022573	PMID:33060197	PMID:33536335	PMID:33567341	PMID:33766124	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34709727
PMID:34800366	PMID:35007762	PMID:35235311	PMID:35271311	PMID:35439318	PMID:35509820	PMID:35563538	PMID:35575683	PMID:35944360	PMID:36168627	PMID:36215168	PMID:36526897
PMID:36538041	PMID:36724073	PMID:36895010	PMID:37317656	PMID:37616343	PMID:37827155	PMID:37931956	PMID:38569033

Genomics

Comparative Map Data

DNAJC11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	6,634,170 - 6,701,816 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	6,634,168 - 6,701,924 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	6,694,230 - 6,761,876 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	6,616,818 - 6,684,460 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	6,628,496 - 6,696,139	NCBI
Celera	1	5,808,085 - 5,875,829 (-)	NCBI		Celera
Cytogenetic Map	1	p36.31	NCBI
HuRef	1	5,841,691 - 5,909,280 (-)	NCBI		HuRef
CHM1_1	1	6,682,946 - 6,750,670 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	6,159,834 - 6,227,482 (-)	NCBI		T2T-CHM13v2.0

Dnajc11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	152,018,177 - 152,066,416 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	152,018,148 - 152,066,594 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	151,933,720 - 151,981,959 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	151,933,691 - 151,982,137 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	151,307,829 - 151,356,068 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	150,777,531 - 150,820,484 (+)	NCBI		MGSCv36	mm8
Celera	4	154,218,847 - 154,266,983 (+)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	82.77	NCBI

Dnajc11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	167,724,776 - 167,770,032 (+)	NCBI		GRCr8
mRatBN7.2	5	162,442,042 - 162,487,966 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	162,442,026 - 162,488,169 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	165,144,997 - 165,190,379 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	166,965,766 - 167,011,245 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	166,927,965 - 166,973,444 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	169,109,907 - 169,154,725 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	169,109,907 - 169,154,720 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	172,668,492 - 172,712,647 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	169,163,307 - 169,208,563 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	169,173,490 - 169,218,754 (+)	NCBI
Celera	5	160,674,864 - 160,720,096 (+)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Dnajc11
(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_004955486	5,980,656 - 6,011,751 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	5,959,083 - 6,011,177 (+)	NCBI	ChiLan1.0	ChiLan1.0

DNAJC11
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	221,524,315 - 221,591,236 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	220,166,508 - 220,233,435 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	5,398,198 - 5,464,738 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	6,649,908 - 6,716,750 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	6,649,908 - 6,716,755 (-)	Ensembl	panpan1.1		panPan2

DNAJC11
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	60,450,389 - 60,525,852 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	60,436,516 - 60,525,780 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	60,459,863 - 60,535,485 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	60,666,266 - 60,742,972 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	60,665,412 - 60,742,908 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	60,665,560 - 60,741,961 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	60,531,774 - 60,607,150 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	60,934,199 - 61,010,060 (-)	NCBI		UU_Cfam_GSD_1.0

Dnajc11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	30,893,969 - 30,954,982 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936623	1,379,128 - 1,440,241 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936623	1,379,131 - 1,440,241 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DNAJC11
(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	67,463,374 - 67,529,930 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	67,463,366 - 67,529,958 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	62,365,898 - 62,379,131 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DNAJC11
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	125,043,357 - 125,113,008 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	125,043,379 - 125,111,503 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	29,085,155 - 29,156,780 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Dnajc11
(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_004624818	4,856,629 - 4,905,788 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	4,856,558 - 4,905,788 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in DNAJC11
41 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	copy number loss	See cases [RCV000051086]	Chr1:2844760..8007940 [GRCh38] Chr1:2761325..8068000 [GRCh37] Chr1:2751185..7990587 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	copy number gain	See cases [RCV000051794]	Chr1:6652339..12724844 [GRCh38] Chr1:6712399..12784811 [GRCh37] Chr1:6634986..12707398 [NCBI36] Chr1:1p36.31-36.21	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]\|See cases [RCV000053727]	Chr1:5274008..9329925 [GRCh38] Chr1:5334068..9389984 [GRCh37] Chr1:5233928..9312571 [NCBI36] Chr1:1p36.32-36.22	pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]\|See cases [RCV000053730]	Chr1:5682528..10863843 [GRCh38] Chr1:5742588..10923900 [GRCh37] Chr1:5665175..10846487 [NCBI36] Chr1:1p36.31-36.22	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|See cases [RCV000053713]	Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	copy number loss	See cases [RCV000053714]	Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13	pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]\|See cases [RCV000053716]	Chr1:3319336..11243395 [GRCh38] Chr1:3235900..11303452 [GRCh37] Chr1:3225760..11226039 [NCBI36] Chr1:1p36.32-36.22	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]\|See cases [RCV000053718]	Chr1:3438149..8171914 [GRCh38] Chr1:3354713..8231974 [GRCh37] Chr1:3344573..8154561 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	copy number loss	See cases [RCV000053720]	Chr1:3472163..7842947 [GRCh38] Chr1:3388727..7903007 [GRCh37] Chr1:3378587..7825594 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	copy number loss	See cases [RCV000053724]	Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21	pathogenic
NM_018198.3(DNAJC11):c.310C>T (p.Arg104Ter)	single nucleotide variant	Malignant melanoma [RCV000064869]	Chr1:6667777 [GRCh38] Chr1:6727837 [GRCh37] Chr1:6650424 [NCBI36] Chr1:1p36.31	not provided
NM_018198.3(DNAJC11):c.712A>T (p.Thr238Ser)	single nucleotide variant	Malignant melanoma [RCV000060237]	Chr1:6645971 [GRCh38] Chr1:6706031 [GRCh37] Chr1:6628618 [NCBI36] Chr1:1p36.31	not provided
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	copy number loss	See cases [RCV000137461]	Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	copy number loss	See cases [RCV000137948]	Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21	pathogenic\|likely benign
GRCh38/hg38 1p36.31(chr1:6674118-6916542)x3	copy number gain	See cases [RCV000138786]	Chr1:6674118..6916542 [GRCh38] Chr1:6734178..6976602 [GRCh37] Chr1:6656765..6899189 [NCBI36] Chr1:1p36.31	likely benign
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	copy number loss	See cases [RCV000141437]	Chr1:2868477..7332569 [GRCh38] Chr1:2785042..7392629 [GRCh37] Chr1:2774902..7315216 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	copy number gain	See cases [RCV000142906]	Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	copy number loss	See cases [RCV000142771]	Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1	copy number loss	See cases [RCV000449468]	Chr1:2817420..10670878 [GRCh37] Chr1:1p36.32-36.22	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	copy number loss	See cases [RCV000446359]	Chr1:4558588..13187457 [GRCh37] Chr1:1p36.32-36.21	pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	copy number gain	See cases [RCV000447158]	Chr1:2609223..2631378 [GRCh37] Chr1:1p36.32-36.31	benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_018198.4(DNAJC11):c.1098-32dup	duplication	not specified [RCV000454752]	Chr1:6640071..6640072 [GRCh38] Chr1:6700131..6700132 [GRCh37] Chr1:1p36.31	benign
GRCh37/hg19 1p36.31-36.23(chr1:6699803-7248658)x3	copy number gain	See cases [RCV000510592]	Chr1:6699803..7248658 [GRCh37] Chr1:1p36.31-36.23	uncertain significance
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	copy number loss	See cases [RCV000510212]	Chr1:2793822..7510850 [GRCh37] Chr1:1p36.32-36.23	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_018198.4(DNAJC11):c.1207A>G (p.Met403Val)	single nucleotide variant	not specified [RCV004321618]	Chr1:6639948 [GRCh38] Chr1:6700008 [GRCh37] Chr1:1p36.31	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:4965631-8106987)x1	copy number loss	not provided [RCV000736366]	Chr1:4965631..8106987 [GRCh37] Chr1:1p36.32-36.23	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.31(chr1:6677064-6771607)x1	copy number loss	not provided [RCV000748870]	Chr1:6677064..6771607 [GRCh37] Chr1:1p36.31	benign
NM_018198.4(DNAJC11):c.713C>T (p.Thr238Ile)	single nucleotide variant	not specified [RCV004294406]	Chr1:6645970 [GRCh38] Chr1:6706030 [GRCh37] Chr1:1p36.31	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_018198.4(DNAJC11):c.1025A>C (p.Lys342Thr)	single nucleotide variant	not specified [RCV004308476]	Chr1:6644630 [GRCh38] Chr1:6704690 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.823G>A (p.Gly275Ser)	single nucleotide variant	not specified [RCV004317086]	Chr1:6645860 [GRCh38] Chr1:6705920 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1599C>T (p.Gly533=)	single nucleotide variant	not provided [RCV000885843]	Chr1:6636172 [GRCh38] Chr1:6696232 [GRCh37] Chr1:1p36.31	benign
NM_018198.4(DNAJC11):c.1497G>A (p.Ser499=)	single nucleotide variant	not provided [RCV000954828]	Chr1:6637225 [GRCh38] Chr1:6697285 [GRCh37] Chr1:1p36.31	benign
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV001535693]	Chr1:2420003..8155935 [GRCh37] Chr1:1p36.32-36.23	not provided
GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280713]	Chr1:6250285..7943864 [GRCh37] Chr1:1p36.31-36.23	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.31-36.23(chr1:6360146-7888730)	copy number gain	not specified [RCV002052447]	Chr1:6360146..7888730 [GRCh37] Chr1:1p36.31-36.23	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.10:g.(?_6485016)_(12569078_?)del	deletion	not provided [RCV001940096]	Chr1:6485016..12569078 [GRCh37] Chr1:1p36.31-36.22	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_018198.4(DNAJC11):c.1033A>G (p.Arg345Gly)	single nucleotide variant	not specified [RCV004317420]	Chr1:6644622 [GRCh38] Chr1:6704682 [GRCh37] Chr1:1p36.31	uncertain significance
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	copy number loss	not provided [RCV002474779]	Chr1:6758933..19287770 [GRCh37] Chr1:1p36.31-36.13	pathogenic
GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	copy number loss	not provided [RCV002473853]	Chr1:5505039..7027995 [GRCh37] Chr1:1p36.31	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_018198.4(DNAJC11):c.164C>T (p.Ala55Val)	single nucleotide variant	not specified [RCV004135003]	Chr1:6680946 [GRCh38] Chr1:6741006 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1358T>C (p.Ile453Thr)	single nucleotide variant	not specified [RCV004186101]	Chr1:6637470 [GRCh38] Chr1:6697530 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.686G>A (p.Arg229His)	single nucleotide variant	not specified [RCV004200548]	Chr1:6651547 [GRCh38] Chr1:6711607 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.425A>G (p.Tyr142Cys)	single nucleotide variant	not specified [RCV004220751]	Chr1:6653993 [GRCh38] Chr1:6714053 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1661G>A (p.Arg554Lys)	single nucleotide variant	not specified [RCV004184825]	Chr1:6635694 [GRCh38] Chr1:6695754 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.916G>A (p.Ala306Thr)	single nucleotide variant	not specified [RCV004104071]	Chr1:6645105 [GRCh38] Chr1:6705165 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.931C>G (p.Gln311Glu)	single nucleotide variant	not specified [RCV004159763]	Chr1:6645090 [GRCh38] Chr1:6705150 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1604T>C (p.Leu535Pro)	single nucleotide variant	not specified [RCV004107751]	Chr1:6636167 [GRCh38] Chr1:6696227 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.593C>T (p.Ala198Val)	single nucleotide variant	not specified [RCV004142992]	Chr1:6652866 [GRCh38] Chr1:6712926 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1081G>A (p.Val361Ile)	single nucleotide variant	not specified [RCV004181668]	Chr1:6644574 [GRCh38] Chr1:6704634 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1303A>C (p.Lys435Gln)	single nucleotide variant	not specified [RCV004110196]	Chr1:6638315 [GRCh38] Chr1:6698375 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.221C>A (p.Thr74Asn)	single nucleotide variant	not specified [RCV004176447]	Chr1:6678449 [GRCh38] Chr1:6738509 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1600G>A (p.Val534Ile)	single nucleotide variant	not specified [RCV004193263]	Chr1:6636171 [GRCh38] Chr1:6696231 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.924C>G (p.Ile308Met)	single nucleotide variant	not specified [RCV004274058]	Chr1:6645097 [GRCh38] Chr1:6705157 [GRCh37] Chr1:1p36.31	uncertain significance
NC_000001.10:g.4481271_20530242del	deletion	Chromosome 1p36 deletion syndrome [RCV003159574]	Chr1:4481271..20530242 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_018198.4(DNAJC11):c.28C>G (p.Leu10Val)	single nucleotide variant	not specified [RCV004272269]	Chr1:6701773 [GRCh38] Chr1:6761833 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1321G>A (p.Ala441Thr)	single nucleotide variant	not specified [RCV004331525]	Chr1:6638297 [GRCh38] Chr1:6698357 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1042G>A (p.Val348Ile)	single nucleotide variant	not specified [RCV004355532]	Chr1:6644613 [GRCh38] Chr1:6704673 [GRCh37] Chr1:1p36.31	uncertain significance
GRCh37/hg19 1p36.31(chr1:6498150-6886649)x3	copy number gain	not provided [RCV003484006]	Chr1:6498150..6886649 [GRCh37] Chr1:1p36.31	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
GRCh37/hg19 1p36.31(chr1:6727645-6854433)x1	copy number loss	not specified [RCV003986784]	Chr1:6727645..6854433 [GRCh37] Chr1:1p36.31	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	copy number loss	not specified [RCV003987072]	Chr1:4536962..7934520 [GRCh37] Chr1:1p36.32-36.23	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	copy number loss	not specified [RCV003987128]	Chr1:6330828..12910774 [GRCh37] Chr1:1p36.31-36.21	pathogenic
NM_018198.4(DNAJC11):c.1214G>A (p.Arg405His)	single nucleotide variant	not specified [RCV004379328]	Chr1:6639941 [GRCh38] Chr1:6700001 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.554C>T (p.Ser185Leu)	single nucleotide variant	not specified [RCV004379333]	Chr1:6652905 [GRCh38] Chr1:6712965 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1180G>A (p.Val394Met)	single nucleotide variant	not specified [RCV004379326]	Chr1:6639975 [GRCh38] Chr1:6700035 [GRCh37] Chr1:1p36.31	uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	copy number loss	not provided [RCV004577440]	Chr1:4436802..22782007 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_018198.4(DNAJC11):c.1064T>C (p.Val355Ala)	single nucleotide variant	not specified [RCV004379325]	Chr1:6644591 [GRCh38] Chr1:6704651 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1564G>A (p.Glu522Lys)	single nucleotide variant	not specified [RCV004379330]	Chr1:6636207 [GRCh38] Chr1:6696267 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1676G>A (p.Gly559Glu)	single nucleotide variant	not specified [RCV004379331]	Chr1:6635679 [GRCh38] Chr1:6695739 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1208T>G (p.Met403Arg)	single nucleotide variant	not specified [RCV004379327]	Chr1:6639947 [GRCh38] Chr1:6700007 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1511C>T (p.Thr504Met)	single nucleotide variant	not specified [RCV004379329]	Chr1:6637211 [GRCh38] Chr1:6697271 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.757G>A (p.Gly253Ser)	single nucleotide variant	not specified [RCV004379334]	Chr1:6645926 [GRCh38] Chr1:6705986 [GRCh37] Chr1:1p36.31	uncertain significance
NC_000001.10:g.(?_5923325)_(12071622_?)del	deletion	not provided [RCV004579132]	Chr1:5923325..12071622 [GRCh37] Chr1:1p36.31-36.22	uncertain significance
NM_018198.4(DNAJC11):c.1582C>G (p.Leu528Val)	single nucleotide variant	not specified [RCV004622175]	Chr1:6636189 [GRCh38] Chr1:6696249 [GRCh37] Chr1:1p36.31	uncertain significance
NM_018198.4(DNAJC11):c.1282G>A (p.Ala428Thr)	single nucleotide variant	not specified [RCV004330954]	Chr1:6638336 [GRCh38] Chr1:6698396 [GRCh37] Chr1:1p36.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3854
Count of miRNA genes:	993
Interacting mature miRNAs:	1209
Transcripts:	ENST00000294401, ENST00000349363, ENST00000377573, ENST00000377577, ENST00000426784, ENST00000451196, ENST00000460594, ENST00000465508, ENST00000465911, ENST00000469318, ENST00000472414, ENST00000473993, ENST00000485073, ENST00000542246
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.

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
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
407046915	GWAS695891_H	body mass index QTL GWAS695891 (human)		3e-20	body mass index	body mass index (BMI) (CMO:0000105)	1	6655330	6655331	Human
407203780	GWAS852756_H	attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS852756 (human)		4e-09	attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement		1	6687837	6687838	Human
407062945	GWAS711921_H	retinal vasculature measurement QTL GWAS711921 (human)		6e-12	retina blood vessel morphology trait (VT:0002792)		1	6648186	6648187	Human
407137543	GWAS786519_H	schizophrenia QTL GWAS786519 (human)		0.000004	schizophrenia		1	6677152	6677153	Human
407201135	GWAS850111_H	schizophrenia QTL GWAS850111 (human)		8e-09	schizophrenia		1	6665170	6665171	Human
407101672	GWAS750648_H	age at menopause QTL GWAS750648 (human)		3e-08	age at menopause		1	6641918	6641919	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human
407311543	GWAS960519_H	risk-taking behaviour QTL GWAS960519 (human)		1e-08	risk-taking behaviour		1	6649851	6649852	Human
407073811	GWAS722787_H	body mass index QTL GWAS722787 (human)		3e-11	body mass index	body mass index (BMI) (CMO:0000105)	1	6655330	6655331	Human
407004368	GWAS653344_H	body mass index QTL GWAS653344 (human)		0.000002	body mass index	body mass index (BMI) (CMO:0000105)	1	6655330	6655331	Human
407098103	GWAS747079_H	body mass index QTL GWAS747079 (human)		3e-09	body mass index	body mass index (BMI) (CMO:0000105)	1	6655330	6655331	Human
407252851	GWAS901827_H	body mass index QTL GWAS901827 (human)		1e-09	body mass index	body mass index (BMI) (CMO:0000105)	1	6634867	6634868	Human
407010900	GWAS659876_H	body mass index QTL GWAS659876 (human)		2e-09	body mass index	body mass index (BMI) (CMO:0000105)	1	6655330	6655331	Human
407314769	GWAS963745_H	QRS duration QTL GWAS963745 (human)		9e-10	QRS duration	QRS duration (CMO:0000267)	1	6689701	6689702	Human
406936601	GWAS585577_H	rosacea severity measurement QTL GWAS585577 (human)		0.000006	rosacea severity measurement		1	6656231	6656232	Human
407231128	GWAS880104_H	Antihypertensive use measurement QTL GWAS880104 (human)		2e-09	Antihypertensive use measurement		1	6635271	6635272	Human
406973663	GWAS622639_H	body mass index QTL GWAS622639 (human)		2e-10	body mass index	body mass index (BMI) (CMO:0000105)	1	6655330	6655331	Human
406908511	GWAS557487_H	self reported educational attainment QTL GWAS557487 (human)		6e-10	self reported educational attainment		1	6645884	6645885	Human
407081020	GWAS729996_H	body mass index QTL GWAS729996 (human)		5e-09	body mass index	body mass index (BMI) (CMO:0000105)	1	6655380	6655381	Human

Markers in Region

D1S2731

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,701,339 - 6,701,519	UniSTS	GRCh37
Build 36	1	6,623,926 - 6,624,106	RGD	NCBI36
Celera	1	5,815,196 - 5,815,374	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,848,799 - 5,848,977	UniSTS
Marshfield Genetic Map	1	14.04	UniSTS
Marshfield Genetic Map	1	14.04	RGD
Genethon Genetic Map	1	16.4	UniSTS
deCODE Assembly Map	1	12.0	UniSTS

A009F43

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,694,281 - 6,694,434	UniSTS	GRCh37
Build 36	1	6,616,868 - 6,617,021	RGD	NCBI36
Celera	1	5,808,138 - 5,808,291	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,841,744 - 5,841,897	UniSTS
GeneMap99-GB4 RH Map	1	27.3	UniSTS
NCBI RH Map	1	6.5	UniSTS

SHGC-74159

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,712,518 - 6,712,757	UniSTS	GRCh37
Build 36	1	6,635,105 - 6,635,344	RGD	NCBI36
Celera	1	5,826,372 - 5,826,611	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,859,976 - 5,860,215	UniSTS
TNG Radiation Hybrid Map	1	2103.0	UniSTS
GeneMap99-GB4 RH Map	1	27.3	UniSTS

RH36717

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,694,231 - 6,694,294	UniSTS	GRCh37
Build 36	1	6,616,818 - 6,616,881	RGD	NCBI36
Celera	1	5,808,088 - 5,808,151	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,841,694 - 5,841,757	UniSTS

AL033625

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,732,259 - 6,732,399	UniSTS	GRCh37
Build 36	1	6,654,846 - 6,654,986	RGD	NCBI36
Celera	1	5,846,112 - 5,846,252	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,879,563 - 5,879,703	UniSTS

G62036

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,694,431 - 6,694,601	UniSTS	GRCh37
Build 36	1	6,617,018 - 6,617,188	RGD	NCBI36
Celera	1	5,808,288 - 5,808,458	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,841,894 - 5,842,064	UniSTS

D1S1257

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,738,372 - 6,738,532	UniSTS	GRCh37
Build 36	1	6,660,959 - 6,661,119	RGD	NCBI36
Celera	1	5,852,226 - 5,852,386	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,885,677 - 5,885,837	UniSTS

SHGC-74158

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,694,239 - 6,694,368	UniSTS	GRCh37
Build 36	1	6,616,826 - 6,616,955	RGD	NCBI36
Celera	1	5,808,096 - 5,808,225	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,841,702 - 5,841,831	UniSTS
TNG Radiation Hybrid Map	1	2115.0	UniSTS
GeneMap99-GB4 RH Map	1	27.1	UniSTS
Whitehead-RH Map	1	30.4	UniSTS
NCBI RH Map	1	22.7	UniSTS

SHGC-57899

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,695,395 - 6,695,562	UniSTS	GRCh37
Build 36	1	6,617,982 - 6,618,149	RGD	NCBI36
Celera	1	5,809,252 - 5,809,419	RGD
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,842,858 - 5,843,025	UniSTS
TNG Radiation Hybrid Map	1	2121.0	UniSTS

G32516

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	6,694,281 - 6,694,434	UniSTS	GRCh37
Celera	1	5,808,138 - 5,808,291	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
HuRef	1	5,841,744 - 5,841,897	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_018198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF052158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF306694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF306695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF306696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294539	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL109978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL159177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY336749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB461237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000294401 ⟹ ENSP00000294401

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,635,113 - 6,701,924 (-)	Ensembl

Ensembl Acc Id:

ENST00000377577 ⟹ ENSP00000366800

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,170 - 6,701,816 (-)	Ensembl

Ensembl Acc Id:

ENST00000426784 ⟹ ENSP00000410194

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,645,800 - 6,701,802 (-)	Ensembl

Ensembl Acc Id:

ENST00000451196 ⟹ ENSP00000415871

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,168 - 6,681,037 (-)	Ensembl

Ensembl Acc Id:

ENST00000460594

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,654,108 - 6,701,823 (-)	Ensembl

Ensembl Acc Id:

ENST00000465508

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,211 - 6,645,112 (-)	Ensembl

Ensembl Acc Id:

ENST00000465911

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,670,461 - 6,701,819 (-)	Ensembl

Ensembl Acc Id:

ENST00000469318

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,652,914 - 6,668,210 (-)	Ensembl

Ensembl Acc Id:

ENST00000472414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,184 - 6,701,822 (-)	Ensembl

Ensembl Acc Id:

ENST00000473993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,645,876 - 6,701,822 (-)	Ensembl

Ensembl Acc Id:

ENST00000485073

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,653,809 - 6,701,804 (-)	Ensembl

Ensembl Acc Id:

ENST00000685129 ⟹ ENSP00000509149

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,184 - 6,701,822 (-)	Ensembl

Ensembl Acc Id:

ENST00000685360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,186 - 6,646,956 (-)	Ensembl

Ensembl Acc Id:

ENST00000685485

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,647,340 - 6,701,819 (-)	Ensembl

Ensembl Acc Id:

ENST00000686243 ⟹ ENSP00000509108

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,184 - 6,701,804 (-)	Ensembl

Ensembl Acc Id:

ENST00000688162

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,652,664 - 6,701,819 (-)	Ensembl

Ensembl Acc Id:

ENST00000688524 ⟹ ENSP00000508956

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,184 - 6,701,819 (-)	Ensembl

Ensembl Acc Id:

ENST00000689025

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,184 - 6,647,065 (-)	Ensembl

Ensembl Acc Id:

ENST00000689169

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,186 - 6,639,530 (-)	Ensembl

Ensembl Acc Id:

ENST00000689474

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,186 - 6,701,819 (-)	Ensembl

Ensembl Acc Id:

ENST00000690062

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,186 - 6,701,822 (-)	Ensembl

Ensembl Acc Id:

ENST00000690452

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,183 - 6,701,822 (-)	Ensembl

Ensembl Acc Id:

ENST00000691444

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,652,650 - 6,701,819 (-)	Ensembl

Ensembl Acc Id:

ENST00000691481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,634,184 - 6,647,076 (-)	Ensembl

Ensembl Acc Id:

ENST00000693337

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	6,666,597 - 6,701,822 (-)	Ensembl

RefSeq Acc Id:

NM_018198 ⟹ NP_060668

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	6,634,170 - 6,701,816 (-)	NCBI
GRCh37	1	6,694,228 - 6,761,966 (-)	RGD
Build 36	1	6,616,818 - 6,684,460 (-)	NCBI Archive
Celera	1	5,808,085 - 5,875,829 (-)	RGD
HuRef	1	5,841,691 - 5,909,280 (-)	RGD
CHM1_1	1	6,682,946 - 6,750,670 (-)	NCBI
T2T-CHM13v2.0	1	6,159,834 - 6,227,482 (-)	NCBI

Sequence:

show sequence

GTGAAAGGTTGCGAAGATGGCGACGGCCTTGAGCGAGGAGGAGCTGGACAATGAAGACTATTAC
TCGTTGCTGAACGTGCGCAGGGAGGCCTCTTCTGAAGAGCTGAAAGCTGCCTACCGGAGGCTCT
GTATGCTCTACCATCCAGACAAGCACAGAGACCCAGAGCTCAAGTCACAGGCGGAACGACTGTT
TAACCTTGTTCACCAGGCTTATGAAGTGCTTAGTGACCCCCAAACCAGGGCCATCTATGATATA
TATGGGAAGAGAGGACTGGAAATGGAAGGATGGGAGGTTGTGGAAAGGAGGAGAACCCCTGCTG
AAATTCGAGAGGAGTTTGAGCGGCTGCAGAGAGAGAGAGAAGAGAGGAGATTGCAGCAGCGAAC
CAATCCCAAGGGAACGATCAGCGTTGGAGTAGATGCCACCGACCTTTTTGATCGCTATGATGAG
GAGTATGAAGATGTGTCCGGCAGTAGCTTTCCGCAGATTGAAATTAATAAAATGCACATATCCC
AGTCCATTGAGGCACCCTTGACAGCGACAGACACAGCCATCCTCTCTGGAAGCCTCTCAACCCA
GAATGGAAATGGAGGAGGTTCCATTAACTTTGCGCTCAGACGAGTAACTTCGGCAAAGGGATGG
GGAGAGTTGGAATTTGGAGCTGGAGACCTACAGGGGCCTTTGTTCGGTCTCAAGCTGTTCCGTA
ATCTCACACCAAGATGCTTTGTGACAACAAACTGTGCTCTGCAGTTTTCATCCCGTGGAATCCG
ACCCGGCCTGACCACTGTCCTAGCTCGGAACCTAGACAAGAACACCGTGGGCTACCTGCAGTGG
CGATGGGGTATCCAGTCAGCCATGAACACTAGCATCGTCCGAGACACTAAAACCAGCCACTTCA
CTGTGGCCCTGCAGCTGGGAATCCCTCACTCCTTTGCACTGATCAGCTATCAGCACAAATTCCA
AGATGACGATCAGACTCGTGTGAAAGGATCCCTCAAAGCAGGCTTCTTTGGGACGGTGGTGGAG
TACGGAGCTGAGAGGAAGATCTCCAGGCACAGCGTTTTGGGTGCAGCTGTCAGCGTTGGAGTTC
CACAGGGTGTTTCTCTCAAAGTCAAGCTCAACAGGGCCAGTCAGACATACTTCTTCCCTATTCA
CTTGACGGACCAGCTTCTGCCCAGCGCCATGTTCTATGCCACCGTGGGGCCTCTAGTGGTCTAC
TTTGCCATGCACCGTCTGATCATCAAACCATACCTCAGGGCTCAGAAAGAGAAGGAATTGGAGA
AGCAGAGGGAAAGCGCCGCCACCGATGTGCTGCAGAAGAAGCAAGAGGCGGAGTCCGCTGTCCG
GCTGATGCAGGAATCTGTCCGAAGGATAATTGAGGCAGAAGAGTCCAGAATGGGCCTCATCATC
GTCAATGCCTGGTACGGGAAGTTTGTCAATGACAAGAGCAGGAAGAGCGAGAAGGTGAAGGTGA
TTGACGTGACTGTGCCCCTGCAGTGCCTGGTGAAGGACTCGAAGCTCATCCTCACGGAGGCCTC
CAAGGCTGGGCTGCCTGGCTTTTATGACCCGTGTGTGGGGGAAGAGAAGAACCTGAAAGTGCTC
TATCAGTTCCGGGGCGTCCTGCATCAGGTGATGGTGCTGGACAGTGAGGCCCTCCGGATACCAA
AGCAGTCCCACAGGATCGATACAGATGGATAAACTGCCAAGAACCAGATTTTTAAAAGGCCGCA
AAAAATCTTTTCCTGGGAGTCTACAAATTTGGAAATGAAAAAACCCAGACATCAGATGTTTTTA
TTTTATATTATTATTATAGAAGGTGGTACCATTATCAATTATGTGAAGGGACATGCAGACACCC
CAGCTTTTGAGGGTGCTGGGGGTAGGACTGAGGCAGCCCCACTGGGAACCAGACTGCAGCCTGG
CCCATGGCTGTTTTCCCAAGGATCAGTTCCTGGAGGGAAGGGCTCTGGCCCTGACTCCGCTGTG
TCCCGAGCACACGTGCTGACCGCAGCCCGCCGCCCTGTAGTTCTTGGCTGGGTCTGGAGGTGTC
TGTGGAGCACCCTGCCCTCACCACAGGAGCGTGAGCCACTTCTGCAGTCCACGCTGAACATGGG
AAACAACCTGAAAAGCAGGCAGGCCTCCCGGTCAGGGAGCCTCTGCTGTGCTGGCTTCCCATGA
CCACCTCCTCTTGCTGAAATATTACTGCTTGAATCTGGAGCAGATTGCGGGTTTATAAAACTGC
TTTTTATCTGAGAACAAACGGGTTTGGAAATTAGTCGTCTTTTTTCCCCACTCCCAGAGCTGCT
CAAGTCATTCCACCGGCCCCCTCGGCTTGGGACAGGGTAGTGTAACTCCCGATCCCAGGGCCTA
GCCCTGACACAGGTGGCTTCCCGTATCCCGGTGGGAAAACGCCCTGCCACCAGCGGGCTTGAGC
TGGCCTGTGTCCCTCCACCGCCTGCACCACCCACCTCCAGAGTGCAGTGCTGGGCAAGGGCAGC
TCAAGAGGACAGGACCAGGCGCTTGGCAAGACATCAGACACACCCAACCCAAAGGCGTGGACCC
CAGGCCCGGCCCGTGGTACCCAGCAGGTGGCACTGCAGCTCCCCGCTCCTGCAGGTCCAGCGTC
CTCACAGGAACACCAGGGCCTGTGCTCCGGAGCCTTCCTTCAGACCCTTCCTCCACGTGCCCAC
TTGGGATGCAGAATGCAGCGGAGCTAGGACCCCCTCCACGGCCTGGACCTCGGCTGCAGTAAAG
TTACGTGAGGCCTGTCTCTCGGGGCCTGGAAGTGGCAGCCATCAGTTGCTCTTGCTGACCCCTC
GGAGCAAGCGCCGCACAGGTGGTGGCTGAGACAGCTGGCGCGGGGGGCCCCAAGCTGCGCCGGC
CTCCAGCCCACCCACAGCTGTTGCTGAAGTCAGGCCTCCCTCCCCAGCACTGGTATCTGAGTAA
CGGCTAAGAACCTCCTTCCTCTGGTTTTGAAAAGCAGTTCGGGTTGTCCAATTCTGTAACATTC
ATCTCCATTTTTTAAAAAGGTTTCTCTGACGGCCCCACGGCCCGAGCCGCGGTGAGCGTCGTGT
TGCATGAGCCTGGGCCCCGGGCTTCCCGTGCGCCTCTGCCGCAGGTGCTTCTGGGCACCCATCC
TCTGCGTTTCATTTGCAGTCGACTGTACAGAAGGCACTCACCACAATAAACCTTTCCTGAAAGC
A

hide sequence

RefSeq Acc Id:

XM_047424842 ⟹ XP_047280798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	6,634,170 - 6,681,037 (-)	NCBI

RefSeq Acc Id:

XM_054337587 ⟹ XP_054193562

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	6,159,834 - 6,206,702 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_060668	(Get FASTA)	NCBI Sequence Viewer
	XP_047280798	(Get FASTA)	NCBI Sequence Viewer
	XP_054193562	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06086	(Get FASTA)	NCBI Sequence Viewer
	AAH08772	(Get FASTA)	NCBI Sequence Viewer
	AAH14145	(Get FASTA)	NCBI Sequence Viewer
	AAR02411	(Get FASTA)	NCBI Sequence Viewer
	BAA91780	(Get FASTA)	NCBI Sequence Viewer
	BAG53038	(Get FASTA)	NCBI Sequence Viewer
	BAG57746	(Get FASTA)	NCBI Sequence Viewer
	BAG60614	(Get FASTA)	NCBI Sequence Viewer
	CAB53376	(Get FASTA)	NCBI Sequence Viewer
	CAD38701	(Get FASTA)	NCBI Sequence Viewer
	EAW71570	(Get FASTA)	NCBI Sequence Viewer
	EAW71571	(Get FASTA)	NCBI Sequence Viewer
	EAW71572	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000294401.7
	ENSP00000366800
	ENSP00000366800.5
	ENSP00000410194.1
	ENSP00000415871.1
	ENSP00000508956.1
	ENSP00000509108.1
	ENSP00000509149.1
GenBank Protein	Q9NVH1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060668 ⟸ NM_018198

- UniProtKB:

Q8NDM2 (UniProtKB/Swiss-Prot), Q6PK70 (UniProtKB/Swiss-Prot), Q6PK20 (UniProtKB/Swiss-Prot), Q5VZN0 (UniProtKB/Swiss-Prot), Q4VWF5 (UniProtKB/Swiss-Prot), Q96CL7 (UniProtKB/Swiss-Prot), Q9NVH1 (UniProtKB/Swiss-Prot), B4DPK2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MATALSEEELDNEDYYSLLNVRREASSEELKAAYRRLCMLYHPDKHRDPELKSQAERLFNLVHQ
AYEVLSDPQTRAIYDIYGKRGLEMEGWEVVERRRTPAEIREEFERLQREREERRLQQRTNPKGT
ISVGVDATDLFDRYDEEYEDVSGSSFPQIEINKMHISQSIEAPLTATDTAILSGSLSTQNGNGG
GSINFALRRVTSAKGWGELEFGAGDLQGPLFGLKLFRNLTPRCFVTTNCALQFSSRGIRPGLTT
VLARNLDKNTVGYLQWRWGIQSAMNTSIVRDTKTSHFTVALQLGIPHSFALISYQHKFQDDDQT
RVKGSLKAGFFGTVVEYGAERKISRHSVLGAAVSVGVPQGVSLKVKLNRASQTYFFPIHLTDQL
LPSAMFYATVGPLVVYFAMHRLIIKPYLRAQKEKELEKQRESAATDVLQKKQEAESAVRLMQES
VRRIIEAEESRMGLIIVNAWYGKFVNDKSRKSEKVKVIDVTVPLQCLVKDSKLILTEASKAGLP
GFYDPCVGEEKNLKVLYQFRGVLHQVMVLDSEALRIPKQSHRIDTDG

hide sequence

Ensembl Acc Id:

ENSP00000415871 ⟸ ENST00000451196

Ensembl Acc Id:

ENSP00000410194 ⟸ ENST00000426784

Ensembl Acc Id:

ENSP00000294401 ⟸ ENST00000294401

Ensembl Acc Id:

ENSP00000366800 ⟸ ENST00000377577

Ensembl Acc Id:

ENSP00000509149 ⟸ ENST00000685129

Ensembl Acc Id:

ENSP00000508956 ⟸ ENST00000688524

Ensembl Acc Id:

ENSP00000509108 ⟸ ENST00000686243

RefSeq Acc Id:	XP_047280798 ⟸ XM_047424842
- Peptide Label:	isoform X1
- UniProtKB:	B4DGD5 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193562 ⟸ XM_054337587
- Peptide Label:	isoform X1
- UniProtKB:	B4DGD5 (UniProtKB/TrEMBL)

Protein Domains

DnaJ-like protein C11 C-terminal J

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NVH1-F1-model_v2	AlphaFold	Q9NVH1	1-559	view protein structure

Promoters

RGD ID:

6853952

Promoter ID:

EPDNEW_H141

Type:

multiple initiation site

Name:

DNAJC11_2

Description:

DnaJ heat shock protein family member C11

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H142

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	6,680,944 - 6,681,004	EPDNEW

RGD ID:

6785059

Promoter ID:

HG_KWN:469

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:

ENST00000349363, ENST00000377573, OTTHUMT00000004216, OTTHUMT00000004217, OTTHUMT00000004972, OTTHUMT00000004973, OTTHUMT00000004974, OTTHUMT00000004975, OTTHUMT00000004976

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	6,684,246 - 6,684,746 (-)	MPROMDB

RGD ID:

6853954

Promoter ID:

EPDNEW_H142

Type:

initiation region

Name:

DNAJC11_1

Description:

DnaJ heat shock protein family member C11

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H141

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	6,701,822 - 6,701,882	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25570	AgrOrtholog
COSMIC	DNAJC11	COSMIC
Ensembl Genes	ENSG00000007923	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000294401.11	UniProtKB/Swiss-Prot
	ENST00000377577	ENTREZGENE
	ENST00000377577.10	UniProtKB/Swiss-Prot
	ENST00000426784.1	UniProtKB/TrEMBL
	ENST00000451196.5	UniProtKB/TrEMBL
	ENST00000685129.1	UniProtKB/TrEMBL
	ENST00000686243.1	UniProtKB/TrEMBL
	ENST00000688524.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.287.110	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000007923	GTEx
HGNC ID	HGNC:25570	ENTREZGENE
Human Proteome Map	DNAJC11	Human Proteome Map
InterPro	DnaJ-like_C11_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DnaJ_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DnaJ_domain_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	J_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Mito_inner_membrane_organizer	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:55735	UniProtKB/Swiss-Prot
NCBI Gene	55735	ENTREZGENE
OMIM	614827	OMIM
PANTHER	DNAJ HOMOLOG SUBFAMILY C MEMBER 11	UniProtKB/Swiss-Prot
	DNAJ HOMOLOG SUBFAMILY C MEMBER 11	UniProtKB/Swiss-Prot
	DNAJ HOMOLOG SUBFAMILY C MEMBER 11	UniProtKB/TrEMBL
	DNAJ HOMOLOG SUBFAMILY C MEMBER 11	UniProtKB/TrEMBL
Pfam	DnaJ	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DNAJC11_beta-barrel	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DUF3395	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134893823	PharmGKB
PRINTS	JDOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	DNAJ_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DNAJ_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	DnaJ	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46565	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8I5KRM1_HUMAN	UniProtKB/TrEMBL
	A0A8I5KXQ7_HUMAN	UniProtKB/TrEMBL
	A0A8I5QJB4_HUMAN	UniProtKB/TrEMBL
	B1AK20_HUMAN	UniProtKB/TrEMBL
	B4DGD5	ENTREZGENE, UniProtKB/TrEMBL
	B4DPK2	ENTREZGENE, UniProtKB/TrEMBL
	DJC11_HUMAN	UniProtKB/Swiss-Prot
	Q4VWF5	ENTREZGENE
	Q5TH61_HUMAN	UniProtKB/TrEMBL
	Q5VZN0	ENTREZGENE
	Q6PK20	ENTREZGENE
	Q6PK70	ENTREZGENE
	Q8NDM2	ENTREZGENE
	Q96CL7	ENTREZGENE
	Q9NVH1	ENTREZGENE
UniProt Secondary	Q4VWF5	UniProtKB/Swiss-Prot
	Q5VZN0	UniProtKB/Swiss-Prot
	Q6PK20	UniProtKB/Swiss-Prot
	Q6PK70	UniProtKB/Swiss-Prot
	Q8NDM2	UniProtKB/Swiss-Prot
	Q96CL7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	DNAJC11	DnaJ heat shock protein family (Hsp40) member C11		DnaJ (Hsp40) homolog, subfamily C, member 11	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