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Gene: C8orf76 (chromosome 8 open reading frame 76) Homo sapiens

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Symbol:

C8orf76

Name:

chromosome 8 open reading frame 76

RGD ID:

1602854

HGNC Page

HGNC:25924

Description:

ASSOCIATED WITH trichorhinophalangeal syndrome type I; INTERACTS WITH benzene; benzo[a]pyrene; cyclosporin A

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ14825; hypothetical protein LOC84933; MGC9784; uncharacterized protein C8orf76

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	8	123,219,967 - 123,241,377 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	123,219,967 - 123,241,377 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	124,232,207 - 124,253,617 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	124,301,412 - 124,322,798 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	120,421,270 - 120,442,656 (-)	NCBI		Celera
Cytogenetic Map	8	q24.13	NCBI
HuRef	8	119,557,816 - 119,579,268 (-)	NCBI		HuRef
CHM1_1	8	124,272,483 - 124,293,925 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	124,351,104 - 124,372,514 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
C8orf76	Human	trichorhinophalangeal syndrome type I		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I	ClinVar	PMID:25741868

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
C8orf76	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	C7h8orf76 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of C7H8ORF76 mRNA	CTD	PMID:22298810
C8orf76	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	C7h8orf76 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of C7H8ORF76 mRNA	CTD	PMID:33387578
C8orf76	Human	benzene	increases expression	EXP		6480464	Benzene results in increased expression of C8ORF76 mRNA	CTD	PMID:19162166
C8orf76	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of C8ORF76 mRNA	CTD	PMID:20106945 and PMID:21632981
C8orf76	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of C8ORF76 promoter	CTD	PMID:27901495
C8orf76	Human	bisphenol A	decreases expression	ISO	C7h8orf76 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of C8ORF76 mRNA	CTD	PMID:25181051
C8orf76	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of C8ORF76 mRNA	CTD	PMID:20106945
C8orf76	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
C8orf76	Human	entinostat	decreases expression	EXP		6480464	entinostat results in decreased expression of C8ORF76 mRNA	CTD	PMID:26272509
C8orf76	Human	entinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C8ORF76 mRNA	CTD	PMID:27188386
C8orf76	Human	gentamycin	decreases expression	ISO	C7h8orf76 (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of C7H8ORF76 mRNA	CTD	PMID:33387578
C8orf76	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of C8ORF76 mRNA	CTD	PMID:23410634
C8orf76	Human	menadione	affects expression	EXP		6480464	Vitamin K 3 affects the expression of C8ORF76 mRNA	CTD	PMID:23410634
C8orf76	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of C8ORF76 mRNA	CTD	PMID:35430440
C8orf76	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C8ORF76 mRNA	CTD	PMID:27188386
C8orf76	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
C8orf76	Human	tert-butyl hydroperoxide	affects expression	EXP		6480464	tert-Butylhydroperoxide affects the expression of C8ORF76 mRNA	CTD	PMID:23410634
C8orf76	Human	trichostatin A	decreases expression	EXP		6480464	trichostatin A results in decreased expression of C8ORF76 mRNA	CTD	PMID:24935251 and PMID:26272509
C8orf76	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C8ORF76 mRNA	CTD	PMID:27188386

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

PMID:8125298	PMID:12477932	PMID:14702039	PMID:15489334	PMID:19416867	PMID:20379614	PMID:25356737	PMID:30733230	PMID:32393512	PMID:33961781	PMID:35482249	PMID:35559673
PMID:35884471

C8orf76
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	123,219,967 - 123,241,377 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	123,219,967 - 123,241,377 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	124,232,207 - 124,253,617 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	124,301,412 - 124,322,798 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	120,421,270 - 120,442,656 (-)	NCBI		Celera
Cytogenetic Map	8	q24.13	NCBI
HuRef	8	119,557,816 - 119,579,268 (-)	NCBI		HuRef
CHM1_1	8	124,272,483 - 124,293,925 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	124,351,104 - 124,372,514 (-)	NCBI		T2T-CHM13v2.0

9130401M01Rik
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	57,885,666 - 57,897,690 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	57,885,655 - 57,897,721 (-)	Ensembl		GRCm39 Ensembl
GRCm39 Ensembl	15	57,891,639 - 57,939,821 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	58,022,270 - 58,034,294 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	58,022,259 - 58,034,325 (-)	Ensembl	GRCm38		mm10	GRCm38
GRCm38.p6 Ensembl	15	58,028,243 - 58,076,425 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	57,853,825 - 57,865,849 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	57,847,890 - 57,864,299 (-)	NCBI		MGSCv36	mm8
Celera	15	59,542,292 - 59,554,316 (-)	NCBI		Celera
Cytogenetic Map	15	D1	NCBI
cM Map	15	24.23	NCBI

C7h8orf76
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	91,448,422 - 91,459,284 (-)	NCBI		GRCr8
mRatBN7.2	7	89,558,890 - 89,569,810 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	89,558,909 - 89,569,810 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	91,435,855 - 91,446,673 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	93,637,137 - 93,647,955 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	93,455,238 - 93,466,044 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	97,891,723 - 97,902,585 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	97,889,517 - 97,944,151 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	98,498,308 - 98,509,170 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	94,729,977 - 94,740,627 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	94,764,207 - 94,774,857 (-)	NCBI
Celera	7	86,331,456 - 86,342,319 (-)	NCBI		Celera
Cytogenetic Map	7	q33	NCBI

CUNH8orf76
(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_004955540	2,098,032 - 2,115,850 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955540	2,097,912 - 2,115,921 (-)	NCBI	ChiLan1.0	ChiLan1.0

C7H8orf76
(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	140,652,426 - 140,675,217 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	116,163,600 - 116,186,387 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	119,915,810 - 119,938,583 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	122,672,133 - 122,695,029 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	122,672,133 - 122,695,029 (-)	Ensembl	panpan1.1		panPan2

C13H8orf76
(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	21,599,283 - 21,619,386 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	21,599,501 - 21,644,897 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	21,564,486 - 21,584,455 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	21,938,854 - 21,958,883 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	21,938,858 - 21,958,835 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	21,667,500 - 21,687,443 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	21,770,140 - 21,790,134 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	22,013,349 - 22,033,352 (-)	NCBI		UU_Cfam_GSD_1.0

CUNH8orf76
(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	16,667,232 - 16,685,628 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	24,093,345 - 24,111,906 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	24,093,346 - 24,110,514 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

C4H8orf76
(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	16,137,193 - 16,158,255 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	16,137,177 - 16,161,853 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	16,881,292 - 16,905,699 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CUNH8orf76
(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	117,797,430 - 117,820,289 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	117,797,309 - 117,820,044 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666039	22,411,683 - 22,434,793 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

CUNH8orf76
(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	31,691,316 - 31,708,444 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	31,691,290 - 31,706,981 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in C8orf76
2 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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 8q24.13(chr8:122751607-123361569)x3	copy number gain	See cases [RCV000050761]	Chr8:122751607..123361569 [GRCh38] Chr8:123763846..124373809 [GRCh37] Chr8:123833027..124442990 [NCBI36] Chr8:8q24.13	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 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 8q23.3-24.21(chr8:113288454-126716087)x1	copy number loss	See cases [RCV000054301]	Chr8:113288454..126716087 [GRCh38] Chr8:114300683..127728332 [GRCh37] Chr8:114369859..127797514 [NCBI36] Chr8:8q23.3-24.21	pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	copy number gain	See cases [RCV000133620]	Chr8:122454392..128513076 [GRCh38] Chr8:123466631..129525322 [GRCh37] Chr8:123535812..129594504 [NCBI36] Chr8:8q24.13-24.21	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 8q21.3-24.23(chr8:86300584-137022587)x3	copy number gain	See cases [RCV000135621]	Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23	pathogenic\|likely 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 8q11.1-24.3(chr8:46031340-139285494)x3	copy number gain	See cases [RCV000139539]	Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3	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
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
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 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 8q21.3-24.3(chr8:93047482-141355635)x3	copy number gain	See cases [RCV000511761]	Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3	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 8q21.2-24.3(chr8:86841228-142689874)x3	copy number gain	See cases [RCV000510854]	Chr8:86841228..142689874 [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
Single allele	deletion	Trichorhinophalangeal dysplasia type I [RCV000735900]	Chr8:114508086..129040004 [GRCh37] Chr8:8q23.3-24.21	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 8q24.13(chr8:124238872-124416004)x1	copy number loss	not provided [RCV000747810]	Chr8:124238872..124416004 [GRCh37] Chr8:8q24.13	benign
GRCh37/hg19 8q24.13(chr8:124243771-124440262)x3	copy number gain	not provided [RCV000747811]	Chr8:124243771..124440262 [GRCh37] Chr8:8q24.13	benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	copy number loss	not provided [RCV000848438]	Chr8:124120772..135265846 [GRCh37] Chr8:8q24.13-24.22	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 8q24.13-24.21(chr8:123074293-131113892)x1	copy number loss	not provided [RCV000848164]	Chr8:123074293..131113892 [GRCh37] Chr8:8q24.13-24.21	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(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	copy number gain	not provided [RCV001006140]	Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	copy number gain	Neurodevelopmental disorder [RCV003327615]	Chr8:115586904..135607135 [GRCh38] Chr8:8q23.3-24.23	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 8q24.12-24.13(chr8:121938227-125485728)x1	copy number loss	not provided [RCV001281354]	Chr8:121938227..125485728 [GRCh37] Chr8:8q24.12-24.13	uncertain significance
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 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 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 8q23.3-24.22(chr8:112234557-133668379)x1	copy number loss	not provided [RCV002474553]	Chr8:112234557..133668379 [GRCh37] Chr8:8q23.3-24.22	pathogenic
NM_032847.3(C8orf76):c.22T>G (p.Phe8Val)	single nucleotide variant	not specified [RCV004207303]	Chr8:123241325 [GRCh38] Chr8:124253565 [GRCh37] Chr8:8q24.13	uncertain significance
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	copy number loss	Exostoses, multiple, type 1 [RCV003329505]	Chr8:118185471..126635744 [GRCh37] Chr8:8q24.11-24.13	pathogenic
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 8q24.11-24.22(chr8:118071721-132774256)x1	copy number loss	not specified [RCV003986782]	Chr8:118071721..132774256 [GRCh37] Chr8:8q24.11-24.22	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
NM_032847.3(C8orf76):c.556G>C (p.Ala186Pro)	single nucleotide variant	not specified [RCV004431960]	Chr8:123231559 [GRCh38] Chr8:124243799 [GRCh37] Chr8:8q24.13	uncertain significance
GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3	copy number gain	not provided [RCV004819306]	Chr8:111432348..146295771 [GRCh37] Chr8:8q23.2-24.3	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	932
Count of miRNA genes:	657
Interacting mature miRNAs:	728
Transcripts:	ENST00000276704, ENST00000517760, ENST00000518996, ENST00000519791, ENST00000521310, ENST00000522477, ENST00000523726
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.

RH93745

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	124,238,486 - 124,238,634	UniSTS	GRCh37
Build 36	8	124,307,667 - 124,307,815	RGD	NCBI36
Celera	8	120,427,525 - 120,427,673	RGD
Cytogenetic Map	8	q	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
HuRef	8	119,564,106 - 119,564,254	UniSTS
GeneMap99-GB4 RH Map	8	477.8	UniSTS

RH80528

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	124,233,867 - 124,234,108	UniSTS	GRCh37
GRCh37	15	44,784,258 - 44,784,494	UniSTS	GRCh37
Build 36	8	124,303,048 - 124,303,289	RGD	NCBI36
Celera	8	120,422,906 - 120,423,147	RGD
Celera	15	21,674,015 - 21,674,251	UniSTS
HuRef	10	92,155,294 - 92,155,701	UniSTS
HuRef	8	119,559,487 - 119,559,728	UniSTS
HuRef	15	21,607,199 - 21,607,435	UniSTS
GeneMap99-GB4 RH Map	15	168.84	UniSTS

STS-AA032013

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	124,250,663 - 124,250,814	UniSTS	GRCh37
Build 36	8	124,319,844 - 124,319,995	RGD	NCBI36
Celera	8	120,439,702 - 120,439,853	RGD
Cytogenetic Map	8	q24.13	UniSTS
HuRef	8	119,576,293 - 119,576,444	UniSTS
GeneMap99-GB4 RH Map	8	472.52	UniSTS
NCBI RH Map	8	1472.9	UniSTS

STS-N32331

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	124,232,348 - 124,232,483	UniSTS	GRCh37
Build 36	8	124,301,529 - 124,301,664	RGD	NCBI36
Celera	8	120,421,387 - 120,421,522	RGD
Cytogenetic Map	8	q24.13	UniSTS
HuRef	8	119,557,968 - 119,558,103	UniSTS
GeneMap99-GB4 RH Map	8	476.41	UniSTS

RH48703

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	124,240,044 - 124,240,223	UniSTS	GRCh37
Build 36	8	124,309,225 - 124,309,404	RGD	NCBI36
Celera	8	120,429,083 - 120,429,262	RGD
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
HuRef	8	119,565,664 - 119,565,843	UniSTS
GeneMap99-GB4 RH Map	8	476.41	UniSTS
NCBI RH Map	8	1461.6	UniSTS

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	174	1


RefSeq Transcripts	NM_032847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC068228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR156993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GD144749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000276704 ⟹ ENSP00000276704

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,219,967 - 123,241,377 (-)	Ensembl

Ensembl Acc Id:

ENST00000517760

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,226,360 - 123,231,592 (-)	Ensembl

Ensembl Acc Id:

ENST00000518996

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,231,404 - 123,239,386 (-)	Ensembl

Ensembl Acc Id:

ENST00000519791

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,220,195 - 123,241,286 (-)	Ensembl

Ensembl Acc Id:

ENST00000521310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,226,498 - 123,241,344 (-)	Ensembl

Ensembl Acc Id:

ENST00000522477

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,239,640 - 123,241,377 (-)	Ensembl

Ensembl Acc Id:

ENST00000523726

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	123,238,569 - 123,241,355 (-)	Ensembl

RefSeq Acc Id:

NM_032847 ⟹ NP_116236

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	123,219,967 - 123,241,377 (-)	NCBI
GRCh37	8	124,232,196 - 124,253,656 (-)	NCBI
Build 36	8	124,301,412 - 124,322,798 (-)	NCBI Archive
Celera	8	120,421,270 - 120,442,656 (-)	RGD
HuRef	8	119,557,816 - 119,579,268 (-)	ENTREZGENE
CHM1_1	8	124,272,483 - 124,293,925 (-)	NCBI
T2T-CHM13v2.0	8	124,351,104 - 124,372,514 (-)	NCBI

Sequence:

show sequence

GCTTCCTCGTTGCCCCCGCCGCGGGCGCGAGATGGATTCCGGGTGCTGGTTGTTCGGCGGCGAGTTCGAGGACTCGGTGTTCGAGGAGAGGCCGGAGCGGCGGTCAGGACCGCCCGCGTCCTACTGCG
CCAAGCTCTGCGAGCCGCAGTGGTTTTATGAAGAAACAGAAAGCAGTGATGATGTTGAAGTGCTGACTCTCAAGAAATTCAAAGGAGACCTGGCCTACAGACGACAAGAGTATCAGAAAGCACTGCAG
GAGTATTCCAGTATCTCTGAAAAATTGTCATCAACCAATTTTGCCATGAAAAGGGATGTCCAGGAAGGTCAGGCTCGGTGTCTGGCTCACCTGGGTAGGCATATGGAGGCGCTGGAGATTGCTGCAAA
CTTGGAAAATAAAGCAACCAACACAGACCATTTAACCACGGTACTCTACCTCCAGCTTGCTATTTGTTCAAGTTTGCAGAACTTGGAGAAAACAATTTTCTGCCTGCAGAAACTGATTTCTTTGCATC
CTTTTAATCCTTGGAACTGGGGCAAATTGGCAGAGGCTTACCTGAATCTGGGGCCAGCTCTTTCAGCAGCACTTGCGTCATCTCAGAAACAGCACAGTTTCACCTCAAGTGACAAAACTATCAAATCC
TTCTTTCCACACTCAGGAAAAGACTGTCTTTTGTGTTTTCCTGAAACCTTGCCTGAGAGCTCTTTATTTTCTGTGGAAGCGAATAGCAGTAATAGCCAGAAAAATGAGAAAGCTCTGACAAATATCCA
AAACTGTATGGCAGAAAAGAGAGAAACAGTGTTGATAGAGACTCAGCTGAAAGCATGTGCCTCTTTTATACGAACCAGGCTTCTGCTTCAGTTTACCCAACCTCAGCAAACATCGTTTGCTTTGGAGA
GGAACTTAAGGACTCAGCAGGAAATTGAAGATAAAATGAAAGGGTTCAGCTTCAAAGAAGACACTTTGCTGTTGATAGCTGAGGTTATGGGAGAAGATATCCCAGAAAAAATAAAAGATGAAGTTCAC
CCAGAGGTGAAGTGTGTTGGCTCCGTAGCCCTGACTGCCTTGGTGACTGTATCCTCAGAAGAATTTGAAGACAAGTGGTTCAGAAAGATCAAAGACCATTTCTGTCCATTTGAAAATCAGTTCCATAC
AGAGATACAAATCTTGGCTTAGTGGGTTATAAAAAACAAAACCACAAATATCTTGTACTGTATTAATTGTCCTTGTTTACTTCAGACAGGATCCATTGCTAATCATGGAGTATAAATGATTATTTATG
TTTTATAAAACTGGCTTCTGTCTCAAATGA

hide sequence


Protein RefSeqs	NP_116236	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH67796	(Get FASTA)	NCBI Sequence Viewer
	BAB55327	(Get FASTA)	NCBI Sequence Viewer
	BAD96380	(Get FASTA)	NCBI Sequence Viewer
	EAW92026	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000276704
	ENSP00000276704.4
GenBank Protein	Q96K31	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_116236 ⟸ NM_032847

- UniProtKB:

Q53HC1 (UniProtKB/Swiss-Prot), Q96K31 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDSGCWLFGGEFEDSVFEERPERRSGPPASYCAKLCEPQWFYEETESSDDVEVLTLKKFKGDLAYRRQEYQKALQEYSSISEKLSSTNFAMKRDVQEGQARCLAHLGRHMEALEIAANLENKATNTDH
LTTVLYLQLAICSSLQNLEKTIFCLQKLISLHPFNPWNWGKLAEAYLNLGPALSAALASSQKQHSFTSSDKTIKSFFPHSGKDCLLCFPETLPESSLFSVEANSSNSQKNEKALTNIQNCMAEKRETV
LIETQLKACASFIRTRLLLQFTQPQQTSFALERNLRTQQEIEDKMKGFSFKEDTLLLIAEVMGEDIPEKIKDEVHPEVKCVGSVALTALVTVSSEEFEDKWFRKIKDHFCPFENQFHTEIQILA

hide sequence

Ensembl Acc Id:

ENSP00000276704 ⟸ ENST00000276704

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96K31-F1-model_v2	AlphaFold	Q96K31	1-380	view protein structure

RGD ID:

7214109

Promoter ID:

EPDNEW_H12801

Type:

initiation region

Name:

C8orf76_1

Description:

chromosome 8 open reading frame 76

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	123,241,377 - 123,241,437	EPDNEW

RGD ID:

6806540

Promoter ID:

HG_KWN:62021

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000357082

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	124,321,931 - 124,322,431 (-)	MPROMDB

RGD ID:

6806541

Promoter ID:

HG_KWN:62022

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_032847

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	124,322,491 - 124,322,991 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	C8orf76	COSMIC
Ensembl Genes	ENSG00000189376	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000276704	ENTREZGENE
	ENST00000276704.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000189376	GTEx
HGNC ID	HGNC:25924	ENTREZGENE
Human Proteome Map	C8orf76	Human Proteome Map
InterPro	DUF5588	UniProtKB/Swiss-Prot
	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:84933	UniProtKB/Swiss-Prot
NCBI Gene	84933	ENTREZGENE
PANTHER	PTHR31919	UniProtKB/Swiss-Prot
	ZINC FINGERS AND HOMEOBOXES PROTEIN 1, ISOFORM 2	UniProtKB/Swiss-Prot
Pfam	DUF5588	UniProtKB/Swiss-Prot
PharmGKB	PA142672339	PharmGKB
Superfamily-SCOP	SSF48452	UniProtKB/Swiss-Prot
UniProt	CH076_HUMAN	UniProtKB/Swiss-Prot
	Q53HC1	ENTREZGENE
	Q96K31	ENTREZGENE
UniProt Secondary	Q53HC1	UniProtKB/Swiss-Prot

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar