THEM6 (thioesterase superfamily member 6)

Gene: THEM6 (thioesterase superfamily member 6) Homo sapiens

Analyze

Symbol:

THEM6

Name:

thioesterase superfamily member 6

RGD ID:

1602485

HGNC Page

HGNC:29656

Description:

Predicted to be located in extracellular region.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C8orf55; DSCD75; mesenchymal stem cell protein DSCD75; UPF0670 protein C8orf55; UPF0670 protein THEM6

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Them6 (thioesterase superfamily member 6)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Them6 (thioesterase superfamily member 6)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Them6 (thioesterase superfamily member 6)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	THEM6 (thioesterase superfamily member 6)	NCBI	Ortholog
Canis lupus familiaris (dog):	THEM6 (thioesterase superfamily member 6)	HGNC	NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Them6 (thioesterase superfamily member 6)	NCBI	Ortholog
Sus scrofa (pig):	THEM6 (thioesterase superfamily member 6)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	THEM6 (thioesterase superfamily member 6)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Them6 (thioesterase superfamily member 6)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Them6 (thioesterase superfamily member 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Them6 (thioesterase superfamily member 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	si:ch73-52e5.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG4660	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	YBR096W	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Danio rerio (zebrafish):	them6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG4666	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	them6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	them6.L	Alliance	DIOPT (Xenbase)

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	8	142,727,223 - 142,736,927 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	142,727,223 - 142,736,927 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	143,808,641 - 143,818,345 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	143,805,623 - 143,815,352 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	140,119,708 - 140,129,412 (+)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	139,061,275 - 139,071,020 (+)	NCBI		HuRef
CHM1_1	8	143,848,894 - 143,858,623 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	143,870,611 - 143,880,316 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

(1->4)-beta-D-glucan (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

bortezomib (EXP)

cadmium atom (EXP,ISO)

cadmium dichloride (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

dioxygen (EXP)

diquat (ISO)

disulfiram (EXP)

endosulfan (ISO)

Enterolactone (EXP)

fenthion (ISO)

fluoranthene (ISO)

formaldehyde (EXP)

genistein (EXP)

hydralazine (EXP)

indole-3-methanol (ISO)

iron dichloride (EXP)

ivermectin (EXP)

lipopolysaccharide (EXP)

maneb (ISO)

mercury atom (ISO)

mercury(0) (ISO)

methidathion (ISO)

orphenadrine (ISO)

paraquat (ISO)

PCB138 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

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

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (EXP,ISO)

tert-butyl hydroperoxide (EXP)

tetrachloroethene (ISO)

thioacetamide (ISO)

trichloroethene (ISO)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

extracellular region (IEA)

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:12477932	PMID:14702039	PMID:16303743	PMID:16341674	PMID:17110338	PMID:20360068	PMID:21182205	PMID:22082156	PMID:23956138	PMID:24189400	PMID:24457600	PMID:25665578
PMID:26186194	PMID:26638075	PMID:26972000	PMID:27173435	PMID:27432908	PMID:28330616	PMID:28380382	PMID:28514442	PMID:28675297	PMID:29180619	PMID:29395067	PMID:29509190
PMID:30619736	PMID:30804502	PMID:30833792	PMID:31056421	PMID:31073040	PMID:31091453	PMID:31527615	PMID:31871319	PMID:31980649	PMID:32344865	PMID:32614325	PMID:32628020
PMID:32807901	PMID:32877691	PMID:33144569	PMID:33545068	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34186245	PMID:34315543	PMID:34709727	PMID:34901782	PMID:35014179
PMID:35337019	PMID:35384245	PMID:35563538	PMID:35696571	PMID:35850772	PMID:35944360	PMID:36114006	PMID:36215168	PMID:36217030	PMID:36538041	PMID:36610398	PMID:36629882
PMID:37827155	PMID:37931956	PMID:38081884

Genomics

Comparative Map Data

THEM6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	142,727,223 - 142,736,927 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	142,727,223 - 142,736,927 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	143,808,641 - 143,818,345 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	143,805,623 - 143,815,352 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	140,119,708 - 140,129,412 (+)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	139,061,275 - 139,071,020 (+)	NCBI		HuRef
CHM1_1	8	143,848,894 - 143,858,623 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	143,870,611 - 143,880,316 (+)	NCBI		T2T-CHM13v2.0

Them6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	74,593,083 - 74,596,222 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	74,593,053 - 74,596,488 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	74,721,234 - 74,724,373 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	74,721,204 - 74,724,639 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	74,551,664 - 74,554,803 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	74,548,489 - 74,551,628 (+)	NCBI		MGSCv36	mm8
Celera	15	76,226,179 - 76,229,191 (+)	NCBI		Celera
Cytogenetic Map	15	D3	NCBI
cM Map	15	34.26	NCBI

Them6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	108,495,554 - 108,498,731 (+)	NCBI		GRCr8
mRatBN7.2	7	106,606,570 - 106,609,747 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	106,606,570 - 106,609,746 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	108,364,878 - 108,367,982 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	110,588,558 - 110,591,662 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	110,534,487 - 110,537,591 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	115,956,276 - 115,959,453 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	115,956,276 - 115,959,453 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	115,861,665 - 115,864,842 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	112,835,301 - 112,838,479 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	112,869,530 - 112,872,708 (+)	NCBI
Celera	7	103,007,718 - 103,010,896 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Them6
(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_004955454	1,433,644 - 1,438,156 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955454	1,433,644 - 1,438,156 (+)	NCBI	ChiLan1.0	ChiLan1.0

THEM6
(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	7	160,162,870 - 160,172,671 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	135,689,102 - 135,698,873 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	139,438,777 - 139,448,541 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	142,483,341 - 142,492,912 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	142,483,341 - 142,492,912 (+)	Ensembl	panpan1.1		panPan2

THEM6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	36,781,892 - 36,787,099 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	36,658,882 - 36,662,862 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	37,186,302 - 37,190,283 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	37,185,934 - 37,189,024 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	36,905,020 - 36,908,998 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	36,994,650 - 36,998,626 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	37,416,744 - 37,420,727 (+)	NCBI		UU_Cfam_GSD_1.0

Them6
(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_024405303	1,711,254 - 1,714,943 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	9,136,768 - 9,141,055 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	9,138,779 - 9,141,016 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

THEM6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	1,471,462 - 1,475,578 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	1,471,458 - 1,476,104 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

THEM6
(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	8	136,980,611 - 136,989,289 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	136,980,609 - 136,989,294 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666039	2,965,842 - 2,974,634 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Them6
(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_004624735	13,909,890 - 13,914,795 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	13,910,570 - 13,914,528 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in THEM6
10 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	copy number gain	See cases [RCV000050830]	Chr8:128220912..145049449 [GRCh38] Chr8:129233158..146274835 [GRCh37] Chr8:129302340..146245639 [NCBI36] Chr8:8q24.21-24.3	pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	copy number gain	See cases [RCV000050638]	Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|See cases [RCV000053677]	Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	copy number gain	See cases [RCV000053678]	Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]\|See cases [RCV000053701]	Chr8:139447227..145054775 [GRCh38] Chr8:140459470..146280161 [GRCh37] Chr8:140528652..146250965 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	copy number gain	See cases [RCV000134353]	Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	copy number loss	See cases [RCV000135981]	Chr8:142201468..144002730 [GRCh38] Chr8:143282829..145076898 [GRCh37] Chr8:143280736..145148886 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	copy number gain	See cases [RCV000137644]	Chr8:130639182..145068712 [GRCh38] Chr8:131651428..146294098 [GRCh37] Chr8:131720610..146264902 [NCBI36] Chr8:8q24.22-24.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	copy number gain	See cases [RCV000137466]	Chr8:139236824..145068712 [GRCh38] Chr8:140249067..146294098 [GRCh37] Chr8:140318249..146264902 [NCBI36] Chr8:8q24.3	likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	copy number gain	See cases [RCV000137340]	Chr8:139004218..145049449 [GRCh38] Chr8:140016461..146274835 [GRCh37] Chr8:140085643..146245639 [NCBI36] Chr8:8q24.3	likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	copy number gain	See cases [RCV000137346]	Chr8:124498498..145068712 [GRCh38] Chr8:125510739..146294098 [GRCh37] Chr8:125579920..146264902 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	copy number gain	See cases [RCV000138551]	Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	copy number gain	See cases [RCV000139036]	Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	copy number gain	See cases [RCV000140447]	Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	copy number loss	See cases [RCV000140913]	Chr8:141738068..144140607 [GRCh38] Chr8:142764538..145195510 [GRCh37] Chr8:142823655..145267498 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	copy number gain	See cases [RCV000141694]	Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	copy number gain	See cases [RCV000142810]	Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	copy number gain	See cases [RCV000142597]	Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	copy number gain	See cases [RCV000143659]	Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3	pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	copy number gain	See cases [RCV000148117]	Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143762893-143867731)x3	copy number gain	See cases [RCV000239918]	Chr8:143762893..143867731 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020)	copy number gain	Intellectual disability [RCV000626547]	Chr8:142840194..146280020 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	copy number gain	See cases [RCV000448954]	Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	copy number gain	See cases [RCV000448348]	Chr8:134825277..146280828 [GRCh37] Chr8:8q24.22-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	copy number gain	See cases [RCV000512003]	Chr8:136378789..146295771 [GRCh37] Chr8:8q24.22-24.3	likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	copy number gain	See cases [RCV000511002]	Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	copy number gain	See cases [RCV000512401]	Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	copy number gain	not provided [RCV000683044]	Chr8:121694649..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	copy number gain	not provided [RCV000683020]	Chr8:143815037..146295771 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	copy number gain	not provided [RCV000846814]	Chr8:139188797..146295771 [GRCh37] Chr8:8q24.23-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	copy number gain	not provided [RCV000849762]	Chr8:122193546..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3	copy number gain	not provided [RCV000846118]	Chr8:142988974..144218537 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	copy number loss	not provided [RCV001006150]	Chr8:142132678..145569441 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143786100-143964656)x3	copy number gain	not provided [RCV000849655]	Chr8:143786100..143964656 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	copy number gain	not provided [RCV000847171]	Chr8:136059859..146295771 [GRCh37] Chr8:8q24.22-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3	copy number gain	not provided [RCV001006153]	Chr8:143728492..144093928 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.94C>A (p.Leu32Met)	single nucleotide variant	Inborn genetic diseases [RCV003272429]	Chr8:142727440 [GRCh38] Chr8:143808858 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	copy number gain	not provided [RCV000845705]	Chr8:125496223..146295771 [GRCh37] Chr8:8q24.13-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:142836592-144175046)x1	copy number loss	not provided [RCV002473674]	Chr8:142836592..144175046 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	copy number gain	not provided [RCV001006146]	Chr8:128877995..146295771 [GRCh37] Chr8:8q24.21-24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	copy number gain	not provided [RCV001006140]	Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1	copy number loss	not provided [RCV001006151]	Chr8:143570920..144459613 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	copy number loss	not provided [RCV001006152]	Chr8:143616831..144930611 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	copy number gain	See cases [RCV002285066]	Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	copy number gain	not specified [RCV002053772]	Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	copy number gain	not specified [RCV002053797]	Chr8:130863093..146295771 [GRCh37] Chr8:8q24.21-24.3	pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	copy number gain	not provided [RCV002221452]	Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3	pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	copy number gain	See cases [RCV002292707]	Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
NM_016647.3(THEM6):c.589A>G (p.Met197Val)	single nucleotide variant	Inborn genetic diseases [RCV002882362]	Chr8:142735401 [GRCh38] Chr8:143816819 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.610G>A (p.Val204Ile)	single nucleotide variant	Inborn genetic diseases [RCV002749382]	Chr8:142735422 [GRCh38] Chr8:143816840 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.473C>T (p.Thr158Ile)	single nucleotide variant	Inborn genetic diseases [RCV002951262]	Chr8:142727819 [GRCh38] Chr8:143809237 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.472A>T (p.Thr158Ser)	single nucleotide variant	Inborn genetic diseases [RCV002951261]	Chr8:142727818 [GRCh38] Chr8:143809236 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.214C>T (p.Arg72Cys)	single nucleotide variant	Inborn genetic diseases [RCV003003616]	Chr8:142727560 [GRCh38] Chr8:143808978 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.406C>T (p.Arg136Cys)	single nucleotide variant	Inborn genetic diseases [RCV002984238]	Chr8:142727752 [GRCh38] Chr8:143809170 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.365G>A (p.Arg122His)	single nucleotide variant	Inborn genetic diseases [RCV002891909]	Chr8:142727711 [GRCh38] Chr8:143809129 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.555C>G (p.Ile185Met)	single nucleotide variant	Inborn genetic diseases [RCV002792298]	Chr8:142735367 [GRCh38] Chr8:143816785 [GRCh37] Chr8:8q24.3	uncertain significance
NM_016647.3(THEM6):c.158G>A (p.Arg53His)	single nucleotide variant	Inborn genetic diseases [RCV003302664]	Chr8:142727504 [GRCh38] Chr8:143808922 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3	copy number gain	not provided [RCV003484754]	Chr8:143689344..144448860 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:143699381-143911520)x3	copy number gain	not provided [RCV003484755]	Chr8:143699381..143911520 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	copy number gain	not provided [RCV003484752]	Chr8:141419599..146295771 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143757257-143957270)x3	copy number gain	not provided [RCV003484756]	Chr8:143757257..143957270 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:143796192-143933158)x1	copy number loss	not specified [RCV003986753]	Chr8:143796192..143933158 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	copy number gain	not provided [RCV003885521]	Chr8:113392581..146364022 [GRCh37] Chr8:8q23.3-24.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1605
Count of miRNA genes:	746
Interacting mature miRNAs:	891
Transcripts:	ENST00000336138, ENST00000518798, ENST00000520217
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

RH98969

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,817,975 - 143,818,105	UniSTS	GRCh37
Build 36	8	143,814,977 - 143,815,107	RGD	NCBI36
Celera	8	140,129,037 - 140,129,167	RGD
Cytogenetic Map	8	q24.3	UniSTS
HuRef	8	139,070,645 - 139,070,775	UniSTS
GeneMap99-GB4 RH Map	8	549.39	UniSTS

RH15611

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,818,151 - 143,818,302	UniSTS	GRCh37
Build 36	8	143,815,153 - 143,815,304	RGD	NCBI36
Celera	8	140,129,213 - 140,129,364	RGD
Cytogenetic Map	8	q24.3	UniSTS
HuRef	8	139,070,821 - 139,070,972	UniSTS
GeneMap99-GB4 RH Map	8	546.79	UniSTS

A009E39

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,818,135 - 143,818,324	UniSTS	GRCh37
Build 36	8	143,815,137 - 143,815,326	RGD	NCBI36
Celera	8	140,129,197 - 140,129,386	RGD
Cytogenetic Map	8	q24.3	UniSTS
HuRef	8	139,070,805 - 139,070,994	UniSTS
GeneMap99-GB4 RH Map	8	549.39	UniSTS

G32486

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,818,135 - 143,818,324	UniSTS	GRCh37
Celera	8	140,129,197 - 140,129,386	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
HuRef	8	139,070,805 - 139,070,994	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2083

1370

1677

600

1099

442

3217

1290

3244

395

1105

1509

171

1139

1871

Low

356

1615

840

1134

907

490

354

104

917

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001363000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_156431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC083841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC108002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF242773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301564	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM744164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000336138 ⟹ ENSP00000338607

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	142,727,223 - 142,736,927 (+)	Ensembl

RefSeq Acc Id:

ENST00000518798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	142,734,530 - 142,736,925 (+)	Ensembl

RefSeq Acc Id:

ENST00000520217 ⟹ ENSP00000427970

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	142,727,723 - 142,736,927 (+)	Ensembl

RefSeq Acc Id:

NM_001363000 ⟹ NP_001349929

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	142,727,223 - 142,736,927 (+)	NCBI
T2T-CHM13v2.0	8	143,870,611 - 143,880,316 (+)	NCBI

Sequence:

show sequence

GGTTCGCTCCGGGCGCGCTGCGCTCGTGAGTTCCCAGGAGGCCTGGCGGGCACCGTAACCAGCG
CCGCGGACACCGGCACCGGCGCCACGGACTCCGCAGGACCCCGCGCCCGCCGCCGCCGCTATGC
TGGGGCTGCTGGTGGCGTTGCTGGCCCTGGGGCTCGCTGTCTTTGCGCTGCTGGACGTCTGGTA
CCTGGTGCGCCTTCCGTGCGCCGTGCTGCGCGCGCGCCTGCTGCAGCCGCGCGTCCGTGACCTG
CTAGCTGAGCAGCGCTTCCCGGGCCGCGTGCTGCCCTCGGACTTGGACCTGCTGCTGCACATGA
ACAACGCGCGCTACCTGCGCGAGGCCGACTTTGCGCGCGTCGCGCACCTGACCCGCTGCGGGGT
GCTCGGGGCGCTGAGGGAGTTGCGGGCGCACACGGTGCTGGCGGCCTCGTGCGCGCGCCACCGC
CGCTCGCTGCGCCTGCTGGAGCCCTTCGAGGTGGAGCCCCCTGAGCTGCCCGCTGATCTGCAGC
ACTGGATCTCCTACAACGAGGCCAGCAGCCAGCTGCTCCGCATGGAGAGTGGGCTCAGTGATGT
CACCAAGGACCAGTGACCGCCACCTTCACACCGTCTGCCCTGGCCACCATCCTGGGCCTGGGGG
CTGCCCACAGATGGGCAGTCTCAGCCATACTCTGTTCCAGCTGGAGTAGCCTCCTGACCAGCCT
GGCCCACCCTGCTCCACCCACTGGGCCCCCCCAGTTATTGATACCCCTCTGTGCTGGGCTCCAC
GCTAGGCAGAAGGAGGAGTGGCATTGGCATCCTGACCCAGCTCTGCCCTCAAGGTGGGGATGGA
TGGGCAAAGGAGAGTCCTGCCTGGCCCTACGATGAGGCCACTCATGTGGGCCTAGGTAGGGGAG
GATGGTGCCTGGAGCAGAGGGACCCACAAGTGCCTCCCGAGCCTAGATCCTGGCTCGGACCACT
GCAAGGGCCGAGGCAGGGCCAGACCAGAGCATCCTGGGTACAGGCCTGGGCTCTCCAGGGCCTG
GGCCTGATTCAGGTGCAGTGGGCACTCCTGAAGGGTCAGAGCGGCATCTGCCAGGCAGCCCCTC
TGGCTTCCGCTGAGGTGGTTGCAGGCCTGGGGCAGAGCCTGGGTGGTCAGAGGCCGGGGCTAGA
GGCAGATGGAAGGGAGGCATTTGCTGACAGAGGACGGGGCACCCGGGCTCCCCACTGCAGTCGG
CCTTGCCTCCTCCTCCTCCTCTACCTCCAGTCAGGCTGGACGGGAGGGTAGCCTTGTGGCTGAG
AGGGGTCAGACTAGGTGGCACAGGGGCTCCTGGAAAGACAGCAGGCTTCCTGCTGGGCGTTCCC
TTGTTGGAGGGAATAGAGTGGGGGTGGGACTCTGCAGGGGTGTCCTTGTCCACTCGCACCCCTC
GCCGCCCACCAGGGCCATGCTCTGTGACTTGGGCTGATCCCCACCCTTTCTGGGCCTACAGCAC
CACAGGCCGCTGTACCCCCTTAGAGCTGCCCCTCTCTGGCCTGGCCGGCAGGCGTCTTCTTAAC
TCCTCTGTCCTCTATATTCAGCATGTTCCTTGTCAGCTGCTGGGCCGGCCCTGCCTTGCGCTAG
CAGAGCCTCTCCTGGCAGCTTCTCAGGTCTCCCTAATGGAGACACCAGGCTACTAGGACACTGG
CTGGGGCCACCCCCTCCTGCCTAATGCCTCACCTTACAGCTGGGGAAACTGAGGCCTGGAATGG
CCCAGAGTCACCAAGGCAAAGTTGGGGCTGGTCCCAGCCTGAGGCTCCAGCTGATGCCCTCAGC
TCCCAGAGAGGGGGTGCCCCATCTAGCTGGGTGCAGGGGTCACTGCTTGTCAGCTCAGGGCCCT
GTGCCCGCTTGCCTGTTCCCCTACATCTGTGCCTGCACATCCAGAACTGCCTCCTTGCCGCTGC
CTCCAGGAAGCCCACCTTGAGCCAGAGTCAAGGGCTGCAGCACTGCCCGATAGAACACGCCCGC
CCTCACTGCTGTTCTTGCCTTACAGCCACCATGGGAAAGCTGCAACCTTTCTGTTTTATTTAAA
GAAAGCCCAACATTAAAGGGTTTTCATTGCAA

hide sequence

RefSeq Acc Id:

NM_016647 ⟹ NP_057731

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	142,727,223 - 142,736,927 (+)	NCBI
GRCh37	8	143,808,621 - 143,818,350 (+)	RGD
Build 36	8	143,805,623 - 143,815,352 (+)	NCBI Archive
Celera	8	140,119,708 - 140,129,412 (+)	RGD
HuRef	8	139,061,275 - 139,071,020 (+)	ENTREZGENE
CHM1_1	8	143,848,894 - 143,858,623 (+)	NCBI
T2T-CHM13v2.0	8	143,870,611 - 143,880,316 (+)	NCBI

Sequence:

show sequence

GGTTCGCTCCGGGCGCGCTGCGCTCGTGAGTTCCCAGGAGGCCTGGCGGGCACCGTAACCAGCG
CCGCGGACACCGGCACCGGCGCCACGGACTCCGCAGGACCCCGCGCCCGCCGCCGCCGCTATGC
TGGGGCTGCTGGTGGCGTTGCTGGCCCTGGGGCTCGCTGTCTTTGCGCTGCTGGACGTCTGGTA
CCTGGTGCGCCTTCCGTGCGCCGTGCTGCGCGCGCGCCTGCTGCAGCCGCGCGTCCGTGACCTG
CTAGCTGAGCAGCGCTTCCCGGGCCGCGTGCTGCCCTCGGACTTGGACCTGCTGCTGCACATGA
ACAACGCGCGCTACCTGCGCGAGGCCGACTTTGCGCGCGTCGCGCACCTGACCCGCTGCGGGGT
GCTCGGGGCGCTGAGGGAGTTGCGGGCGCACACGGTGCTGGCGGCCTCGTGCGCGCGCCACCGC
CGCTCGCTGCGCCTGCTGGAGCCCTTCGAGGTGCGCACCCGCCTGCTGGGCTGGGACGACCGCG
CGTTCTACCTGGAGGCGCGCTTTGTCAGCCTGCGGGACGGCTTCGTGTGCGCGCTGCTGCGCTT
CCGGCAGCACCTGCTGGGCACCTCACCCGAGCGCGTCGTGCAGCACCTGTGCCAGCGCAGGGTG
GAGCCCCCTGAGCTGCCCGCTGATCTGCAGCACTGGATCTCCTACAACGAGGCCAGCAGCCAGC
TGCTCCGCATGGAGAGTGGGCTCAGTGATGTCACCAAGGACCAGTGACCGCCACCTTCACACCG
TCTGCCCTGGCCACCATCCTGGGCCTGGGGGCTGCCCACAGATGGGCAGTCTCAGCCATACTCT
GTTCCAGCTGGAGTAGCCTCCTGACCAGCCTGGCCCACCCTGCTCCACCCACTGGGCCCCCCCA
GTTATTGATACCCCTCTGTGCTGGGCTCCACGCTAGGCAGAAGGAGGAGTGGCATTGGCATCCT
GACCCAGCTCTGCCCTCAAGGTGGGGATGGATGGGCAAAGGAGAGTCCTGCCTGGCCCTACGAT
GAGGCCACTCATGTGGGCCTAGGTAGGGGAGGATGGTGCCTGGAGCAGAGGGACCCACAAGTGC
CTCCCGAGCCTAGATCCTGGCTCGGACCACTGCAAGGGCCGAGGCAGGGCCAGACCAGAGCATC
CTGGGTACAGGCCTGGGCTCTCCAGGGCCTGGGCCTGATTCAGGTGCAGTGGGCACTCCTGAAG
GGTCAGAGCGGCATCTGCCAGGCAGCCCCTCTGGCTTCCGCTGAGGTGGTTGCAGGCCTGGGGC
AGAGCCTGGGTGGTCAGAGGCCGGGGCTAGAGGCAGATGGAAGGGAGGCATTTGCTGACAGAGG
ACGGGGCACCCGGGCTCCCCACTGCAGTCGGCCTTGCCTCCTCCTCCTCCTCTACCTCCAGTCA
GGCTGGACGGGAGGGTAGCCTTGTGGCTGAGAGGGGTCAGACTAGGTGGCACAGGGGCTCCTGG
AAAGACAGCAGGCTTCCTGCTGGGCGTTCCCTTGTTGGAGGGAATAGAGTGGGGGTGGGACTCT
GCAGGGGTGTCCTTGTCCACTCGCACCCCTCGCCGCCCACCAGGGCCATGCTCTGTGACTTGGG
CTGATCCCCACCCTTTCTGGGCCTACAGCACCACAGGCCGCTGTACCCCCTTAGAGCTGCCCCT
CTCTGGCCTGGCCGGCAGGCGTCTTCTTAACTCCTCTGTCCTCTATATTCAGCATGTTCCTTGT
CAGCTGCTGGGCCGGCCCTGCCTTGCGCTAGCAGAGCCTCTCCTGGCAGCTTCTCAGGTCTCCC
TAATGGAGACACCAGGCTACTAGGACACTGGCTGGGGCCACCCCCTCCTGCCTAATGCCTCACC
TTACAGCTGGGGAAACTGAGGCCTGGAATGGCCCAGAGTCACCAAGGCAAAGTTGGGGCTGGTC
CCAGCCTGAGGCTCCAGCTGATGCCCTCAGCTCCCAGAGAGGGGGTGCCCCATCTAGCTGGGTG
CAGGGGTCACTGCTTGTCAGCTCAGGGCCCTGTGCCCGCTTGCCTGTTCCCCTACATCTGTGCC
TGCACATCCAGAACTGCCTCCTTGCCGCTGCCTCCAGGAAGCCCACCTTGAGCCAGAGTCAAGG
GCTGCAGCACTGCCCGATAGAACACGCCCGCCCTCACTGCTGTTCTTGCCTTACAGCCACCATG
GGAAAGCTGCAACCTTTCTGTTTTATTTAAAGAAAGCCCAACATTAAAGGGTTTTCATTGCAA

hide sequence

RefSeq Acc Id:

NR_156431

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	142,727,223 - 142,736,927 (+)	NCBI
T2T-CHM13v2.0	8	143,870,611 - 143,880,316 (+)	NCBI

Sequence:

show sequence

GGTTCGCTCCGGGCGCGCTGCGCTCGTGAGTTCCCAGGAGGCCTGGCGGGCACCGTAACCAGCG
CCGCGGACACCGGCACCGGCGCCACGGACTCCGCAGGACCCCGCGCCCGCCGCCGCCGCTATGC
TGGGGCTGCTGGTGGCGTTGCTGGCCCTGGGGCTCGCTGTCTTTGCGCTGCTGGACGTCTGGTA
CCTGGTGCGCCTTCCGTGCGCCGTGCTGCGCGCGCGCCTGCTGCAGCCGCGCGTCCGTGACCTG
CTAGCTGAGCAGCGCTTCCCGGGCCGCGTGCTGCCCTCGGACTTGGACCTGCTGCTGCACATGA
ACAACGCGCGCTACCTGCGCGAGGCCGACTTTGCGCGCGTCGCGCACCTGACCCGCTGCGGGGT
GCTCGGGGCGCTGAGGGAGTTGCGGGCGCACACGGTGCTGGCGGCCTCGTGCGCGCGCCACCGC
CGCTCGCTGCGCCTGCTGGAGCCCTTCGAGGTGCGCACCCGCCTGCTGGGCTGGGACGACCGCG
CGTTCTACCTGGAGGCGCGCTTTGTCAGCCTGCGGGACGGCTTCGTGTGCGCGCTGCTGCGCTT
CCGGCAGCACCTGCTGGGCACCTCACCCGAGCGCGTCGTGCAGCACCTGTGCCAGCGCAGGACG
GATTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGC
CTTCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCCACTAGCTGGGACTACGGCGCCAGCCA
CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAAAATCAGGAATGCCTTTG
TTCTCCAGACATCGGGATATCTGGACACTCCCAAGTCTGGGTCTCTTTAGTAAACATTATTAAT
TTGTTCCCTTAACTGTGTTTGAAACGCTTGTTCCCCGGTGCCGTAAAGAAATAGCACGTGAACA
TAAATTTAATTTCCTCAGCAAGGCCATTTTTACTTCCTGCAGAAAGGGTACACTCGCCAGCAGC
TTTGCCATGAGAGTACACCGAACAAAGGAGACAGGCTCATTTATAACCTGATGTGTAACAATCG
CTTTTATTTAAAGTGCGAACGGAATATTTAATCCATTTCAGCCAGGGATTTGCATCTTGATACT
CTCTCGATGGCTAAGGTGGAGCCCCCTGAGCTGCCCGCTGATCTGCAGCACTGGATCTCCTACA
ACGAGGCCAGCAGCCAGCTGCTCCGCATGGAGAGTGGGCTCAGTGATGTCACCAAGGACCAGTG
ACCGCCACCTTCACACCGTCTGCCCTGGCCACCATCCTGGGCCTGGGGGCTGCCCACAGATGGG
CAGTCTCAGCCATACTCTGTTCCAGCTGGAGTAGCCTCCTGACCAGCCTGGCCCACCCTGCTCC
ACCCACTGGGCCCCCCCAGTTATTGATACCCCTCTGTGCTGGGCTCCACGCTAGGCAGAAGGAG
GAGTGGCATTGGCATCCTGACCCAGCTCTGCCCTCAAGGTGGGGATGGATGGGCAAAGGAGAGT
CCTGCCTGGCCCTACGATGAGGCCACTCATGTGGGCCTAGGTAGGGGAGGATGGTGCCTGGAGC
AGAGGGACCCACAAGTGCCTCCCGAGCCTAGATCCTGGCTCGGACCACTGCAAGGGCCGAGGCA
GGGCCAGACCAGAGCATCCTGGGTACAGGCCTGGGCTCTCCAGGGCCTGGGCCTGATTCAGGTG
CAGTGGGCACTCCTGAAGGGTCAGAGCGGCATCTGCCAGGCAGCCCCTCTGGCTTCCGCTGAGG
TGGTTGCAGGCCTGGGGCAGAGCCTGGGTGGTCAGAGGCCGGGGCTAGAGGCAGATGGAAGGGA
GGCATTTGCTGACAGAGGACGGGGCACCCGGGCTCCCCACTGCAGTCGGCCTTGCCTCCTCCTC
CTCCTCTACCTCCAGTCAGGCTGGACGGGAGGGTAGCCTTGTGGCTGAGAGGGGTCAGACTAGG
TGGCACAGGGGCTCCTGGAAAGACAGCAGGCTTCCTGCTGGGCGTTCCCTTGTTGGAGGGAATA
GAGTGGGGGTGGGACTCTGCAGGGGTGTCCTTGTCCACTCGCACCCCTCGCCGCCCACCAGGGC
CATGCTCTGTGACTTGGGCTGATCCCCACCCTTTCTGGGCCTACAGCACCACAGGCCGCTGTAC
CCCCTTAGAGCTGCCCCTCTCTGGCCTGGCCGGCAGGCGTCTTCTTAACTCCTCTGTCCTCTAT
ATTCAGCATGTTCCTTGTCAGCTGCTGGGCCGGCCCTGCCTTGCGCTAGCAGAGCCTCTCCTGG
CAGCTTCTCAGGTCTCCCTAATGGAGACACCAGGCTACTAGGACACTGGCTGGGGCCACCCCCT
CCTGCCTAATGCCTCACCTTACAGCTGGGGAAACTGAGGCCTGGAATGGCCCAGAGTCACCAAG
GCAAAGTTGGGGCTGGTCCCAGCCTGAGGCTCCAGCTGATGCCCTCAGCTCCCAGAGAGGGGGT
GCCCCATCTAGCTGGGTGCAGGGGTCACTGCTTGTCAGCTCAGGGCCCTGTGCCCGCTTGCCTG
TTCCCCTACATCTGTGCCTGCACATCCAGAACTGCCTCCTTGCCGCTGCCTCCAGGAAGCCCAC
CTTGAGCCAGAGTCAAGGGCTGCAGCACTGCCCGATAGAACACGCCCGCCCTCACTGCTGTTCT
TGCCTTACAGCCACCATGGGAAAGCTGCAACCTTTCTGTTTTATTTAAAGAAAGCCCAACATTA
AAGGGTTTTCATTGCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001349929	(Get FASTA)	NCBI Sequence Viewer
	NP_057731	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF65450	(Get FASTA)	NCBI Sequence Viewer
	AAH01311	(Get FASTA)	NCBI Sequence Viewer
	AAH19104	(Get FASTA)	NCBI Sequence Viewer
	BAC11600	(Get FASTA)	NCBI Sequence Viewer
	BAG37983	(Get FASTA)	NCBI Sequence Viewer
	BAG63059	(Get FASTA)	NCBI Sequence Viewer
	EAW82309	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000338607
	ENSP00000338607.3
	ENSP00000427970.1
GenBank Protein	Q8WUY1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_057731 ⟸ NM_016647
- Peptide Label:	isoform 1
- UniProtKB:	Q8NBN2 (UniProtKB/Swiss-Prot), B2RDN6 (UniProtKB/Swiss-Prot), Q9NYI2 (UniProtKB/Swiss-Prot), Q8WUY1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLGLLVALLALGLAVFALLDVWYLVRLPCAVLRARLLQPRVRDLLAEQRFPGRVLPSDLDLLLH MNNARYLREADFARVAHLTRCGVLGALRELRAHTVLAASCARHRRSLRLLEPFEVRTRLLGWDD RAFYLEARFVSLRDGFVCALLRFRQHLLGTSPERVVQHLCQRRVEPPELPADLQHWISYNEASS QLLRMESGLSDVTKDQ hide sequence

RefSeq Acc Id:	NP_001349929 ⟸ NM_001363000
- Peptide Label:	isoform 2
- UniProtKB:	B4DWJ7 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000338607 ⟸ ENST00000336138

RefSeq Acc Id:

ENSP00000427970 ⟸ ENST00000520217

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WUY1-F1-model_v2	AlphaFold	Q8WUY1	1-208	view protein structure

Promoters

RGD ID:

7214293

Promoter ID:

EPDNEW_H12893

Type:

initiation region

Name:

THEM6_1

Description:

thioesterase superfamily member 6

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	142,727,274 - 142,727,334	EPDNEW

RGD ID:

6806544

Promoter ID:

HG_KWN:62233

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_016647

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	143,804,876 - 143,805,752 (+)	MPROMDB

RGD ID:

6806546

Promoter ID:

HG_KWN:62234

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid

Transcripts:

UC003YWX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	143,812,906 - 143,814,907 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29656	AgrOrtholog
COSMIC	THEM6	COSMIC
Ensembl Genes	ENSG00000130193	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000336138	ENTREZGENE
	ENST00000336138.4	UniProtKB/Swiss-Prot
	ENST00000520217.1	UniProtKB/TrEMBL
Gene3D-CATH	Hotdog Thioesterase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000130193	GTEx
HGNC ID	HGNC:29656	ENTREZGENE
Human Proteome Map	THEM6	Human Proteome Map
InterPro	HotDog_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51337	UniProtKB/Swiss-Prot
NCBI Gene	51337	ENTREZGENE
PANTHER	PROTEIN THEM6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12475	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	4HBT_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142672318	PharmGKB
Superfamily-SCOP	SSF54637	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B2RDN6	ENTREZGENE
	B4DWJ7	ENTREZGENE, UniProtKB/TrEMBL
	H0YAR9_HUMAN	UniProtKB/TrEMBL
	Q8NBN2	ENTREZGENE
	Q8WUY1	ENTREZGENE
	Q9NYI2	ENTREZGENE
	THEM6_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RDN6	UniProtKB/Swiss-Prot
	Q8NBN2	UniProtKB/Swiss-Prot
	Q9NYI2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-04-24	THEM6	thioesterase superfamily member 6	C8orf55	chromosome 8 open reading frame 55	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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