HAUS8 (HAUS augmin like complex subunit 8)

Gene: HAUS8 (HAUS augmin like complex subunit 8) Homo sapiens

Analyze

Symbol:

HAUS8

Name:

HAUS augmin like complex subunit 8

RGD ID:

1604254

HGNC Page

HGNC:30532

Description:

Predicted to enable microtubule binding activity. Involved in centrosome cycle and spindle assembly. Located in centrosome and mitotic spindle microtubule. Part of HAUS complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DGT4; HAUS augmin-like complex subunit 8; HAUS augmin-like complex, subunit 8; Hec1-interacting and centrosome-associated 1; HEC1/NDC80 interacting, centrosome associated 1; HEC1/NDC80-interacting centrosome-associated protein 1; HICE1; MGC20533; NY-SAR-48; sarcoma antigen NY-SAR-48

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

HAUS8P1

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	19	17,049,729 - 17,075,533 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	17,049,729 - 17,075,625 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	17,160,539 - 17,186,343 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	17,021,571 - 17,047,343 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	17,062,089 - 17,087,860 (-)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	16,729,030 - 16,754,566 (-)	NCBI		HuRef
CHM1_1	19	17,160,304 - 17,185,922 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	17,184,651 - 17,210,456 (-)	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

(+)-schisandrin B (ISO)

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

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

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

Benzo[k]fluoranthene (ISO)

bis(2-chloroethyl) sulfide (EXP)

bisphenol A (EXP,ISO)

caffeine (EXP)

calcitriol (EXP)

cantharidin (ISO)

carbon nanotube (ISO)

cefaloridine (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

copper(II) sulfate (EXP)

coumestrol (EXP)

Cuprizon (ISO)

dibutyl phthalate (ISO)

dioxygen (EXP)

flutamide (ISO)

FR900359 (EXP)

ivermectin (EXP)

ketamine (ISO)

lead(0) (EXP)

leflunomide (EXP)

methapyrilene (EXP)

methimazole (ISO)

methyl methanesulfonate (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

sunitinib (EXP)

temozolomide (EXP)

testosterone (EXP)

tetrachloromethane (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell division (IEA)

centrosome cycle (IBA,IEA,IMP,NAS)

regulation of microtubule nucleation (NAS)

spindle assembly (IBA,IEA,IMP,NAS)

Cellular Component

centrosome (IBA,IDA,IEA)

cytoplasm (IBA,IEA)

cytoskeleton (IEA)

cytosol (TAS)

HAUS complex (IDA,IPI)

microtubule (IEA)

mitotic spindle microtubule (IDA)

nuclear microtubule (IBA,IEA)

spindle (IEA)

spindle pole (IEA)

Molecular Function

microtubule binding (IBA,IEA)

molecular_function (ND)

protein binding (IPI)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:12601173	PMID:18362163	PMID:18443220	PMID:19369198	PMID:19427217	PMID:19776357	PMID:20360068	PMID:21399614	PMID:21690413	PMID:21705324	PMID:21832049
PMID:21873635	PMID:24613305	PMID:24981860	PMID:25173975	PMID:25277244	PMID:25281560	PMID:26186194	PMID:26496610	PMID:26638075	PMID:26673895	PMID:27173435	PMID:27634302
PMID:28380382	PMID:28514442	PMID:28718761	PMID:28986522	PMID:29778605	PMID:29916539	PMID:30044976	PMID:30723163	PMID:30979931	PMID:31462741	PMID:32296183	PMID:32665550
PMID:32814053	PMID:32994395	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34597346	PMID:34672954	PMID:34709727	PMID:34917906	PMID:35241646	PMID:35563538	PMID:35831314
PMID:35944360	PMID:36114006	PMID:36232890	PMID:36538041	PMID:36931259

Genomics

Comparative Map Data

HAUS8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	17,049,729 - 17,075,533 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	17,049,729 - 17,075,625 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	17,160,539 - 17,186,343 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	17,021,571 - 17,047,343 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	17,062,089 - 17,087,860 (-)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	16,729,030 - 16,754,566 (-)	NCBI		HuRef
CHM1_1	19	17,160,304 - 17,185,922 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	17,184,651 - 17,210,456 (-)	NCBI		T2T-CHM13v2.0

Haus8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	71,703,241 - 71,725,234 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	71,701,205 - 71,725,578 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	71,250,597 - 71,272,627 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	71,248,561 - 71,272,934 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	73,775,023 - 73,796,489 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	74,180,114 - 74,201,365 (-)	NCBI		MGSCv36	mm8
Celera	8	73,774,426 - 73,795,873 (-)	NCBI		Celera
Cytogenetic Map	8	B3.3	NCBI
cM Map	8	34.43	NCBI

Haus8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	17,964,813 - 17,979,313 (-)	NCBI		GRCr8
mRatBN7.2	16	17,930,819 - 17,945,254 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	17,930,820 - 17,945,237 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	17,982,171 - 17,996,547 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	19,115,027 - 19,129,457 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	18,035,096 - 18,049,468 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	19,654,785 - 19,669,221 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	19,654,798 - 19,669,196 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	19,512,404 - 19,529,320 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	18,418,561 - 18,434,014 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	18,418,577 - 18,434,001 (-)	NCBI
Celera	16	18,138,535 - 18,152,913 (-)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

Haus8
(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	NW_004955524	1,042,643 - 1,042,951 (+)	NCBI	ChiLan1.0	ChiLan1.0

HAUS8
(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	20	21,919,708 - 21,945,592 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	20,926,373 - 20,952,251 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	16,537,004 - 16,562,860 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	17,511,043 - 17,536,897 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	17,511,043 - 17,536,897 (-)	Ensembl	panpan1.1		panPan2

HAUS8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	45,600,120 - 45,622,569 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	45,600,135 - 45,622,566 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	45,513,373 - 45,535,847 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	46,086,272 - 46,108,746 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	46,086,297 - 46,108,743 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	45,322,850 - 45,345,314 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	45,732,695 - 45,755,149 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	46,008,730 - 46,031,203 (+)	NCBI		UU_Cfam_GSD_1.0

Haus8
(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_024405118	204,165,700 - 204,187,053 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936596	3,714,851 - 3,735,046 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HAUS8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	60,567,581 - 60,593,375 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	60,567,575 - 60,593,378 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	59,946,802 - 59,972,728 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HAUS8
(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	6	15,545,415 - 15,571,144 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	15,544,900 - 15,571,115 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	3,862,769 - 3,888,506 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Haus8
(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 1.0	NW_004624908	752,005 - 760,786 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HAUS8
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	copy number gain	See cases [RCV000052912]	Chr19:13974677..27839676 [GRCh38] Chr19:14085489..28330584 [GRCh37] Chr19:13946489..33022424 [NCBI36] Chr19:19p13.12-q11	pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	copy number gain	See cases [RCV000136696]	Chr19:15133594..24193591 [GRCh38] Chr19:15244405..24376393 [GRCh37] Chr19:15105405..24168233 [NCBI36] Chr19:19p13.12-12	pathogenic\|likely pathogenic
GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	copy number gain	See cases [RCV000240162]	Chr19:17001280..17536087 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3	copy number gain	not provided [RCV000752593]	Chr19:16526787..24631604 [GRCh37] Chr19:19p13.11-11	pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	copy number loss	not provided [RCV000487468]	Chr19:15970389..17893528 [GRCh37] Chr19:19p13.12-13.11	pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	copy number loss	See cases [RCV000511230]	Chr19:15921132..17479860 [GRCh37] Chr19:19p13.12-13.11	likely pathogenic
NM_033417.2(HAUS8):c.667G>A (p.Glu223Lys)	single nucleotide variant	Inborn genetic diseases [RCV003302654]	Chr19:17055981 [GRCh38] Chr19:17166791 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_033417.2(HAUS8):c.619G>A (p.Glu207Lys)	single nucleotide variant	Inborn genetic diseases [RCV003280165]	Chr19:17058575 [GRCh38] Chr19:17169385 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
Single allele	duplication	not provided [RCV000678022]	Chr19:17001280..17536087 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_033417.2(HAUS8):c.868G>A (p.Val290Met)	single nucleotide variant	Inborn genetic diseases [RCV003246168]	Chr19:17052886 [GRCh38] Chr19:17163696 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.1022C>T (p.Ala341Val)	single nucleotide variant	not provided [RCV000964059]	Chr19:17050084 [GRCh38] Chr19:17160894 [GRCh37] Chr19:19p13.11	benign
NM_033417.2(HAUS8):c.336C>T (p.Ile112=)	single nucleotide variant	not provided [RCV000964060]	Chr19:17059641 [GRCh38] Chr19:17170451 [GRCh37] Chr19:19p13.11	benign
GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	copy number loss	not provided [RCV000848728]	Chr19:16875725..17477318 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	copy number gain	not provided [RCV001259370]	Chr19:14286624..20956753 [GRCh37] Chr19:19p13.12-12	pathogenic
NC_000019.9:g.(?_14847048)_(17394124_?)del	deletion	not provided [RCV003116664]	Chr19:14847048..17394124 [GRCh37] Chr19:19p13.12-13.11	uncertain significance
NM_033417.2(HAUS8):c.706T>A (p.Phe236Ile)	single nucleotide variant	Inborn genetic diseases [RCV002754319]	Chr19:17055942 [GRCh38] Chr19:17166752 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.457A>T (p.Thr153Ser)	single nucleotide variant	Inborn genetic diseases [RCV002844294]	Chr19:17058840 [GRCh38] Chr19:17169650 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.112C>T (p.Arg38Trp)	single nucleotide variant	Inborn genetic diseases [RCV003001494]	Chr19:17069066 [GRCh38] Chr19:17179876 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.857A>G (p.Glu286Gly)	single nucleotide variant	Inborn genetic diseases [RCV002661467]	Chr19:17052897 [GRCh38] Chr19:17163707 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.881T>C (p.Leu294Pro)	single nucleotide variant	Inborn genetic diseases [RCV002892748]	Chr19:17052873 [GRCh38] Chr19:17163683 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.959C>T (p.Ala320Val)	single nucleotide variant	Inborn genetic diseases [RCV002808548]	Chr19:17050147 [GRCh38] Chr19:17160957 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.125A>G (p.Tyr42Cys)	single nucleotide variant	Inborn genetic diseases [RCV002935675]	Chr19:17069053 [GRCh38] Chr19:17179863 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.1124C>T (p.Ser375Leu)	single nucleotide variant	Inborn genetic diseases [RCV002652478]	Chr19:17049982 [GRCh38] Chr19:17160792 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.649G>A (p.Glu217Lys)	single nucleotide variant	Inborn genetic diseases [RCV003202476]	Chr19:17055999 [GRCh38] Chr19:17166809 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.220A>G (p.Lys74Glu)	single nucleotide variant	Inborn genetic diseases [RCV003183732]	Chr19:17062707 [GRCh38] Chr19:17173517 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.713C>T (p.Thr238Met)	single nucleotide variant	Inborn genetic diseases [RCV003189035]	Chr19:17055935 [GRCh38] Chr19:17166745 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.820C>T (p.Arg274Cys)	single nucleotide variant	Inborn genetic diseases [RCV003260331]	Chr19:17052934 [GRCh38] Chr19:17163744 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.580G>A (p.Glu194Lys)	single nucleotide variant	Inborn genetic diseases [RCV003306901]	Chr19:17058614 [GRCh38] Chr19:17169424 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.661C>T (p.Pro221Ser)	single nucleotide variant	Inborn genetic diseases [RCV003345325]	Chr19:17055987 [GRCh38] Chr19:17166797 [GRCh37] Chr19:19p13.11	uncertain significance
NM_033417.2(HAUS8):c.781C>G (p.Leu261Val)	single nucleotide variant	Inborn genetic diseases [RCV003369202]	Chr19:17055867 [GRCh38] Chr19:17166677 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	copy number gain	not provided [RCV003485195]	Chr19:14888106..17360864 [GRCh37] Chr19:19p13.12-13.11	uncertain significance
GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	copy number gain	not specified [RCV003986122]	Chr19:13970692..18139376 [GRCh37] Chr19:19p13.13-13.11	uncertain significance
GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	copy number gain	not specified [RCV003986116]	Chr19:16857649..17423590 [GRCh37] Chr19:19p13.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1796
Count of miRNA genes:	753
Interacting mature miRNAs:	882
Transcripts:	ENST00000253669, ENST00000448593, ENST00000593360, ENST00000595958, ENST00000597479, ENST00000597917, ENST00000598517, ENST00000601564
Prediction methods:	Microtar, Miranda, Rnahybrid
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.

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

597

486

156

Low

2374

2894

1712

611

1326

452

4246

2070

3382

389

974

1457

168

1204

2747

Below cutoff

101

296

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001011699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_033417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC020908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY211919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040564	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI829542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM563712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX111116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000253669 ⟹ ENSP00000253669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,049,729 - 17,075,452 (-)	Ensembl

RefSeq Acc Id:

ENST00000448593 ⟹ ENSP00000395298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,049,761 - 17,075,625 (-)	Ensembl

RefSeq Acc Id:

ENST00000593360 ⟹ ENSP00000470829

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,049,766 - 17,075,200 (-)	Ensembl

RefSeq Acc Id:

ENST00000595958

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,055,831 - 17,060,242 (-)	Ensembl

RefSeq Acc Id:

ENST00000597479

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,051,683 - 17,053,719 (-)	Ensembl

RefSeq Acc Id:

ENST00000597917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,049,761 - 17,053,083 (-)	Ensembl

RefSeq Acc Id:

ENST00000598517 ⟹ ENSP00000471868

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,050,064 - 17,075,422 (-)	Ensembl

RefSeq Acc Id:

ENST00000601564 ⟹ ENSP00000473111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	17,052,868 - 17,075,444 (-)	Ensembl

RefSeq Acc Id:

NM_001011699 ⟹ NP_001011699

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	17,049,761 - 17,075,533 (-)	NCBI
GRCh37	19	17,160,571 - 17,186,428 (-)	NCBI
Build 36	19	17,021,571 - 17,047,343 (-)	NCBI Archive
Celera	19	17,062,089 - 17,087,860 (-)	RGD
HuRef	19	16,729,030 - 16,754,566 (-)	RGD
CHM1_1	19	17,160,304 - 17,185,922 (-)	NCBI
T2T-CHM13v2.0	19	17,184,683 - 17,210,456 (-)	NCBI

Sequence:

show sequence

GCCTCGCAGCCACCCCTCCTGCGTCTCCACAAATGGTCCGACCCGCAAGCAAGGGGGCGGGTCC
GGCTTTGAAAAGCCGGCGGGTCGGGCCTTGAGGTGGAAGGCGGGAAAATGGCGGATTCCTCGGG
GCGAGGCGCTGGGAAGCCTGCAACCGGCCCCACAAATTCTAGCAGTGCCAAGAAGAAGGATAAA
AGAGTTCAAGGTGGAAGAGTGATTGAGTCCCGGTATCTGCAGTATGAAAAGAAGACAACCCAAA
AGGCTCCTGCAGGAGATGGGTCACAGACCCGAGGGAAGATGTCTGAAGGTGGAAGGAAATCCAG
CCTGCTCCAGAAAAGCAAAGATAGCAGTGGGGTCGGAAAGGGTGACCTGCAGTCCACGTTGCTG
GAAGGGCATGGCACAGCTCCACCTGACCTGGATCTCTCTGCTATTAATGACAAAAGCATCGTCA
AAAAGACGCCACAGTTAGCAAAAACAATATCAAAGAAACCTGAGTCAACATCATTTTCTGCCCC
TCGGAAAAAGAGCCCGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTG
ACGCTACTATCCGTAAAGATGGAGAACAATCTTGCTGAGTTTGAAAGAAGGGCAGAAAAGAATT
TATTAATAATGTGTAAGGAGAAGGAGAAGCTACAGAAAAAGGCCCACGAGCTGAAGCGCAGGCT
TCTCCTCTCTCAGAGGAAGCGGGAGCTGGCAGATGTCCTGGATGCCCAGATCGAGATGCTCAGC
CCCTTCGAGGCAGTGGCCACACGCTTCAAGGAGCAATACAGGACATTCGCCACGGCCCTGGACA
CTACCAGGCACGAGCTGCCCGTGAGGTCCATCCACCTGGAGGGAGATGGGCAGCAGCTCTTAGA
CGCCCTGCAGCATGAACTGGTGACCACTCAGCGCCTCCTGGGAGAACTTGATGTTGGTGATTCG
GAAGAAAATGTGCAGGTGCTGGACTTACTGAGCGAACTCAAGGACGTGACGGCGAAAAAGGACC
TTGAGCTCCGAAGGAGCTTTGCCCAGGTGCTGGAACTCTCCGCAGAGGCAAGCAAAGAGGCAGC
CTTGGCAAACCAGGAAGTCTGGGAAGAGACCCAGGGCATGGCGCCCCCCAGCCGGTGGTATTTC
AATCAAGACAGTGCCTGCAGAGAATCTGGGGGAGCACCCAAGAACACGCCCCTGTCTGAGGACG
ACAACCCGGGTGCCTCGTCAGCCCCCGCTCAGGCCACGTTCATCAGCCCAAGCGAAGATTTTTC
TTCAAGCAGCCAGGCAGAAGTCCCGCCCTCTCTCTCTCGTTCAGGGAGGGACTTGTCATGACTC
ATGGTTACATTCAGGATACTTGAGCACTTTATATACTACCGTAGCACTGTAGCTATTTTTTATG
TGATAATCTTGTTTGATAAAAAAGTAAACCTGTTTTGCAATTGAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_033417 ⟹ NP_219485

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	17,049,729 - 17,075,452 (-)	NCBI
GRCh37	19	17,160,571 - 17,186,428 (-)	NCBI
Build 36	19	17,021,571 - 17,047,343 (-)	NCBI Archive
Celera	19	17,062,089 - 17,087,860 (-)	RGD
HuRef	19	16,729,030 - 16,754,566 (-)	RGD
CHM1_1	19	17,160,304 - 17,185,922 (-)	NCBI
T2T-CHM13v2.0	19	17,184,651 - 17,210,375 (-)	NCBI

Sequence:

show sequence

GGGTCGGGCCTTGAGGTGGAAGGCGGGAAAATGGCGGATTCCTCGGGGCGAGGCGCTGGGAAGC
CTGCAACCGGCCCCACAAATTCTAGCAGTGCCAAGAAGAAGGATAAAAGAGTTCAAGGTGGAAG
AGTGATTGAGTCCCGGTATCTGCAGTATGAAAAGAAGACAACCCAAAAGGCTCCTGCAGGAGAT
GGGTCACAGACCCGAGGGAAGATGTCTGAAGGTGGAAGGAAATCCAGCCTGCTCCAGAAAAGCA
AAGCAGATAGCAGTGGGGTCGGAAAGGGTGACCTGCAGTCCACGTTGCTGGAAGGGCATGGCAC
AGCTCCACCTGACCTGGATCTCTCTGCTATTAATGACAAAAGCATCGTCAAAAAGACGCCACAG
TTAGCAAAAACAATATCAAAGAAACCTGAGTCAACATCATTTTCTGCCCCTCGGAAAAAGAGCC
CGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGT
AAAGATGGAGAACAATCTTGCTGAGTTTGAAAGAAGGGCAGAAAAGAATTTATTAATAATGTGT
AAGGAGAAGGAGAAGCTACAGAAAAAGGCCCACGAGCTGAAGCGCAGGCTTCTCCTCTCTCAGA
GGAAGCGGGAGCTGGCAGATGTCCTGGATGCCCAGATCGAGATGCTCAGCCCCTTCGAGGCAGT
GGCCACACGCTTCAAGGAGCAATACAGGACATTCGCCACGGCCCTGGACACTACCAGGCACGAG
CTGCCCGTGAGGTCCATCCACCTGGAGGGAGATGGGCAGCAGCTCTTAGACGCCCTGCAGCATG
AACTGGTGACCACTCAGCGCCTCCTGGGAGAACTTGATGTTGGTGATTCGGAAGAAAATGTGCA
GGTGCTGGACTTACTGAGCGAACTCAAGGACGTGACGGCGAAAAAGGACCTTGAGCTCCGAAGG
AGCTTTGCCCAGGTGCTGGAACTCTCCGCAGAGGCAAGCAAAGAGGCAGCCTTGGCAAACCAGG
AAGTCTGGGAAGAGACCCAGGGCATGGCGCCCCCCAGCCGGTGGTATTTCAATCAAGACAGTGC
CTGCAGAGAATCTGGGGGAGCACCCAAGAACACGCCCCTGTCTGAGGACGACAACCCGGGTGCC
TCGTCAGCCCCCGCTCAGGCCACGTTCATCAGCCCAAGCGAAGATTTTTCTTCAAGCAGCCAGG
CAGAAGTCCCGCCCTCTCTCTCTCGTTCAGGGAGGGACTTGTCATGACTCATGGTTACATTCAG
GATACTTGAGCACTTTATATACTACCGTAGCACTGTAGCTATTTTTTATGTGATAATCTTGTTT
GATAAAAAAGTAAACCTGTTTTGCAATTGAAGCCTCCATTTTCTATGAAGGGGCCAGTTGGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001011699	(Get FASTA)	NCBI Sequence Viewer
	NP_219485	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH04398	(Get FASTA)	NCBI Sequence Viewer
	AAH10176	(Get FASTA)	NCBI Sequence Viewer
	AAO65172	(Get FASTA)	NCBI Sequence Viewer
	BAG58769	(Get FASTA)	NCBI Sequence Viewer
	EAW84570	(Get FASTA)	NCBI Sequence Viewer
	EAW84571	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000253669
	ENSP00000253669.4
	ENSP00000395298
	ENSP00000395298.1
	ENSP00000470829.1
	ENSP00000471868.1
	ENSP00000473111.1
GenBank Protein	Q9BT25	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_219485 ⟸ NM_033417
- Peptide Label:	isoform a
- UniProtKB:	Q86WF0 (UniProtKB/Swiss-Prot), Q49AC4 (UniProtKB/Swiss-Prot), C9JBZ4 (UniProtKB/Swiss-Prot), B4DJA7 (UniProtKB/Swiss-Prot), Q96FX3 (UniProtKB/Swiss-Prot), Q9BT25 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MADSSGRGAGKPATGPTNSSSAKKKDKRVQGGRVIESRYLQYEKKTTQKAPAGDGSQTRGKMSE GGRKSSLLQKSKADSSGVGKGDLQSTLLEGHGTAPPDLDLSAINDKSIVKKTPQLAKTISKKPE STSFSAPRKKSPDLSEAMEMMESQTLLLTLLSVKMENNLAEFERRAEKNLLIMCKEKEKLQKKA HELKRRLLLSQRKRELADVLDAQIEMLSPFEAVATRFKEQYRTFATALDTTRHELPVRSIHLEG DGQQLLDALQHELVTTQRLLGELDVGDSEENVQVLDLLSELKDVTAKKDLELRRSFAQVLELSA EASKEAALANQEVWEETQGMAPPSRWYFNQDSACRESGGAPKNTPLSEDDNPGASSAPAQATFI SPSEDFSSSSQAEVPPSLSRSGRDLS hide sequence

RefSeq Acc Id:	NP_001011699 ⟸ NM_001011699
- Peptide Label:	isoform b
- UniProtKB:	Q9BT25 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MADSSGRGAGKPATGPTNSSSAKKKDKRVQGGRVIESRYLQYEKKTTQKAPAGDGSQTRGKMSE GGRKSSLLQKSKDSSGVGKGDLQSTLLEGHGTAPPDLDLSAINDKSIVKKTPQLAKTISKKPES TSFSAPRKKSPDLSEAMEMMESQTLLLTLLSVKMENNLAEFERRAEKNLLIMCKEKEKLQKKAH ELKRRLLLSQRKRELADVLDAQIEMLSPFEAVATRFKEQYRTFATALDTTRHELPVRSIHLEGD GQQLLDALQHELVTTQRLLGELDVGDSEENVQVLDLLSELKDVTAKKDLELRRSFAQVLELSAE ASKEAALANQEVWEETQGMAPPSRWYFNQDSACRESGGAPKNTPLSEDDNPGASSAPAQATFIS PSEDFSSSSQAEVPPSLSRSGRDLS hide sequence

RefSeq Acc Id:

ENSP00000253669 ⟸ ENST00000253669

RefSeq Acc Id:

ENSP00000471868 ⟸ ENST00000598517

RefSeq Acc Id:

ENSP00000473111 ⟸ ENST00000601564

RefSeq Acc Id:

ENSP00000395298 ⟸ ENST00000448593

RefSeq Acc Id:

ENSP00000470829 ⟸ ENST00000593360

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BT25-F1-model_v2	AlphaFold	Q9BT25	1-410	view protein structure

Promoters

RGD ID:

6816188

Promoter ID:

HG_SPT:30299

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

AA099117, AA486011, AI751649, BE410751, BF307606, BM563712, BM711102, BM909119, BQ679350, BQ890560, BX357921

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	17,045,846 - 17,046,346 (-)	MPROMDB

RGD ID:

6795672

Promoter ID:

HG_KWN:29225

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:

ENST00000335009, NM_001011699, NM_001130065, NM_004145, NM_033417, UC002NFG.1, UC002NFH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	17,046,241 - 17,048,142 (-)	MPROMDB

RGD ID:

7238987

Promoter ID:

EPDNEW_H25239

Type:

initiation region

Name:

HAUS8_2

Description:

HAUS augmin like complex subunit 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25240

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	17,075,150 - 17,075,210	EPDNEW

RGD ID:

7238991

Promoter ID:

EPDNEW_H25240

Type:

initiation region

Name:

HAUS8_1

Description:

HAUS augmin like complex subunit 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25239

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	17,075,435 - 17,075,495	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30532	AgrOrtholog
COSMIC	HAUS8	COSMIC
Ensembl Genes	ENSG00000131351	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000253669	ENTREZGENE
	ENST00000253669.10	UniProtKB/Swiss-Prot
	ENST00000448593	ENTREZGENE
	ENST00000448593.6	UniProtKB/Swiss-Prot
	ENST00000593360.1	UniProtKB/Swiss-Prot
	ENST00000598517.5	UniProtKB/TrEMBL
	ENST00000601564.5	UniProtKB/TrEMBL
GTEx	ENSG00000131351	GTEx
HGNC ID	HGNC:30532	ENTREZGENE
Human Proteome Map	HAUS8	Human Proteome Map
KEGG Report	hsa:93323	UniProtKB/Swiss-Prot
NCBI Gene	93323	ENTREZGENE
OMIM	613434	OMIM
PANTHER	AUGMIN FAMILY MEMBER	UniProtKB/Swiss-Prot
	HAUS AUGMIN-LIKE COMPLEX SUBUNIT 8	UniProtKB/Swiss-Prot
PharmGKB	PA165393466	PharmGKB
UniProt	B4DJA7	ENTREZGENE
	C9JBZ4	ENTREZGENE
	HAUS8_HUMAN	UniProtKB/Swiss-Prot
	M0R1H1_HUMAN	UniProtKB/TrEMBL
	M0R3B3_HUMAN	UniProtKB/TrEMBL
	Q49AC4	ENTREZGENE
	Q86WF0	ENTREZGENE
	Q96FX3	ENTREZGENE
	Q9BT25	ENTREZGENE
UniProt Secondary	B4DJA7	UniProtKB/Swiss-Prot
	C9JBZ4	UniProtKB/Swiss-Prot
	Q49AC4	UniProtKB/Swiss-Prot
	Q86WF0	UniProtKB/Swiss-Prot
	Q96FX3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	HAUS8	HAUS augmin like complex subunit 8		HAUS augmin-like complex, subunit 8	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