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Gene: HHLA1 (HHLA1 neighbor of OC90) Homo sapiens

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Symbol:

HHLA1

Name:

HHLA1 neighbor of OC90

RGD ID:

1353531

HGNC Page

HGNC:4904

Description:

Predicted to be located in extracellular region.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

HERV-H LTR-associating 1; HERV-H LTR-associating protein 1; PLA2L

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	132,061,480 - 132,111,157 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	132,061,480 - 132,111,159 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	133,073,727 - 133,123,404 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	133,139,449 - 133,197,055 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	133,145,213 - 133,162,533	NCBI
Celera	8	129,249,437 - 129,293,200 (-)	NCBI		Celera
Cytogenetic Map	8	q24.22	NCBI
HuRef	8	128,391,286 - 128,435,044 (-)	NCBI		HuRef
CHM1_1	8	133,114,543 - 133,158,318 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	133,184,384 - 133,234,063 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HHLA1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of HHLA1 promoter	CTD	PMID:27901495
HHLA1	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of HHLA1 mRNA	CTD	PMID:38568856
HHLA1	Human	titanium dioxide	decreases expression	ISO	Hhla1 (Mus musculus)	6480464	titanium dioxide results in decreased expression of HHLA1 mRNA	CTD	PMID:29264374

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HHLA1	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
HHLA1	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044

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

PMID:8382789	PMID:10329003	PMID:14702039	PMID:20585627	PMID:31586073	PMID:38334954

HHLA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	132,061,480 - 132,111,157 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	132,061,480 - 132,111,159 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	133,073,727 - 133,123,404 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	133,139,449 - 133,197,055 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	133,145,213 - 133,162,533	NCBI
Celera	8	129,249,437 - 129,293,200 (-)	NCBI		Celera
Cytogenetic Map	8	q24.22	NCBI
HuRef	8	128,391,286 - 128,435,044 (-)	NCBI		HuRef
CHM1_1	8	133,114,543 - 133,158,318 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	133,184,384 - 133,234,063 (-)	NCBI		T2T-CHM13v2.0

Hhla1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	65,794,292 - 65,848,653 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	65,788,458 - 65,848,653 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	65,922,443 - 65,976,804 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	65,916,609 - 65,976,804 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	65,754,005 - 65,808,366 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	65,754,005 - 65,808,366 (-)	NCBI		MGSCv36	mm8
Celera	15	67,430,071 - 67,484,385 (-)	NCBI		Celera
Cytogenetic Map	15	D1	NCBI
cM Map	15	29.16	NCBI

Hhla1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	99,558,945 - 99,600,389 (-)	NCBI		GRCr8
mRatBN7.2	7	97,670,946 - 97,711,308 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	97,674,538 - 97,711,308 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0 Ensembl	7	106,663,424 - 106,695,570 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Cytogenetic Map	7	q33	NCBI

Hhla1
(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_004955461	6,745,714 - 6,774,493 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955461	6,738,022 - 6,774,493 (-)	NCBI	ChiLan1.0	ChiLan1.0

HHLA1
(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	149,444,755 - 149,494,575 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	124,959,342 - 125,009,173 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	128,710,411 - 128,754,339 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	131,689,794 - 131,731,482 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	131,689,794 - 131,731,482 (-)	Ensembl	panpan1.1		panPan2

HHLA1
(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	28,716,928 - 28,751,272 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	28,717,603 - 28,751,272 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	28,689,957 - 28,724,103 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	29,071,735 - 29,105,932 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	29,072,196 - 29,105,932 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	28,798,842 - 28,832,995 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	28,898,520 - 28,932,699 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	29,210,510 - 29,244,685 (-)	NCBI		UU_Cfam_GSD_1.0

Hhla1
(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	9,606,294 - 9,639,545 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	17,032,679 - 17,059,636 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	17,032,679 - 17,065,033 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HHLA1
(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	8,995,352 - 9,014,846 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	8,971,719 - 9,017,912 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	9,008,168 - 9,054,096 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HHLA1
(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	126,508,204 - 126,545,327 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	126,508,922 - 126,545,115 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666039	13,556,055 - 13,602,106 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hhla1
(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	23,774,673 - 23,808,032 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	23,774,673 - 23,814,274 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in HHLA1
56 total 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 8q24.21-24.22(chr8:129176782-134170188)x1	copy number loss	See cases [RCV000050751]	Chr8:129176782..134170188 [GRCh38] Chr8:130189028..135182431 [GRCh37] Chr8:130258210..135251613 [NCBI36] Chr8:8q24.21-24.22	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 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 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 8q24.21-24.23(chr8:126626164-137169427)x1	copy number loss	See cases [RCV000054306]	Chr8:126626164..137169427 [GRCh38] Chr8:127638409..138181670 [GRCh37] Chr8:127707591..138250852 [NCBI36] Chr8:8q24.21-24.23	pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	copy number gain	See cases [RCV000133621]	Chr8:130115518..141228210 [GRCh38] Chr8:131127764..142238309 [GRCh37] Chr8:131196946..142307491 [NCBI36] Chr8:8q24.21-24.3	pathogenic
GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3	copy number gain	See cases [RCV000133767]	Chr8:131770098..132203964 [GRCh38] Chr8:132782345..133216211 [GRCh37] Chr8:132851527..133285393 [NCBI36] Chr8:8q24.22	uncertain significance
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 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 8q24.13-24.3(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 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 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 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 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 8q24.22(chr8:132005210-133698781)x3	copy number gain	See cases [RCV000515570]	Chr8:132005210..133698781 [GRCh37] Chr8:8q24.22	uncertain significance
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 8q24.21-24.22(chr8:128295596-133200773)x1	copy number loss	See cases [RCV000448960]	Chr8:128295596..133200773 [GRCh37] Chr8:8q24.21-24.22	likely pathogenic
GRCh37/hg19 8q24.22(chr8:132812614-133245950)x3	copy number gain	See cases [RCV000448346]	Chr8:132812614..133245950 [GRCh37] Chr8:8q24.22	uncertain significance
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 8q24.21-24.22(chr8:131025817-133947836)x3	copy number gain	See cases [RCV000511900]	Chr8:131025817..133947836 [GRCh37] Chr8:8q24.21-24.22	uncertain significance
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
NM_001145095.3(HHLA1):c.388C>T (p.Pro130Ser)	single nucleotide variant	not specified [RCV004310380]	Chr8:132095579 [GRCh38] Chr8:133107826 [GRCh37] Chr8:8q24.22	uncertain significance
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 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 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 8q24.22(chr8:132822037-133262048)x3	copy number gain	not provided [RCV000747858]	Chr8:132822037..133262048 [GRCh37] Chr8:8q24.22	benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	copy number loss	not provided [RCV001006144]	Chr8:126892814..143750028 [GRCh37] Chr8:8q24.13-24.3	pathogenic
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 8q24.22(chr8:132588071-133169753)x3	copy number gain	not provided [RCV000848381]	Chr8:132588071..133169753 [GRCh37] Chr8:8q24.22	uncertain significance
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 8q24.12-24.3(chr8:121042467-146295771)x3	copy number gain	not provided [RCV001006140]	Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3	copy number gain	not provided [RCV000846636]	Chr8:132812544..133251797 [GRCh37] Chr8:8q24.22	uncertain significance
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1	copy number loss	not provided [RCV000845974]	Chr8:131915430..135240074 [GRCh37] Chr8:8q24.22	uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
NM_001145095.3(HHLA1):c.229G>A (p.Ala77Thr)	single nucleotide variant	not specified [RCV004281868]	Chr8:132098933 [GRCh38] Chr8:133111180 [GRCh37] Chr8:8q24.22	uncertain significance
GRCh37/hg19 8q24.22(chr8:132732273-133269561)x3	copy number gain	not provided [RCV002472734]	Chr8:132732273..133269561 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1352C>T (p.Ala451Val)	single nucleotide variant	not specified [RCV004309683]	Chr8:132071457 [GRCh38] Chr8:133083704 [GRCh37] Chr8:8q24.22	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 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	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 8q24.22(chr8:133055346-133267468)x3	copy number gain	not provided [RCV001833030]	Chr8:133055346..133267468 [GRCh37] Chr8:8q24.22	uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	copy number gain	not provided [RCV001795855]	Chr8:128878931..141662233 [GRCh37] Chr8:8q24.21-24.3	uncertain significance
GRCh37/hg19 8q24.22(chr8:133034258-133130502)x1	copy number loss	not provided [RCV001829116]	Chr8:133034258..133130502 [GRCh37] Chr8:8q24.22	uncertain significance
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 8q24.22(chr8:132812614-133245950)	copy number gain	not specified [RCV002053798]	Chr8:132812614..133245950 [GRCh37] Chr8:8q24.22	uncertain significance
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_001145095.3(HHLA1):c.470A>G (p.Asp157Gly)	single nucleotide variant	not specified [RCV004309534]	Chr8:132089578 [GRCh38] Chr8:133101825 [GRCh37] Chr8:8q24.22	uncertain significance
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_001145095.3(HHLA1):c.194C>T (p.Thr65Met)	single nucleotide variant	not specified [RCV004080708]	Chr8:132100080 [GRCh38] Chr8:133112327 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.692G>T (p.Gly231Val)	single nucleotide variant	not specified [RCV004207603]	Chr8:132079951 [GRCh38] Chr8:133092198 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.994G>A (p.Val332Met)	single nucleotide variant	not specified [RCV004129755]	Chr8:132077903 [GRCh38] Chr8:133090150 [GRCh37] Chr8:8q24.22	likely benign
NM_001145095.3(HHLA1):c.1338G>T (p.Lys446Asn)	single nucleotide variant	not provided [RCV004696264]\|not specified [RCV004233745]	Chr8:132071471 [GRCh38] Chr8:133083718 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.208G>T (p.Ala70Ser)	single nucleotide variant	not specified [RCV004197230]	Chr8:132098954 [GRCh38] Chr8:133111201 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1463A>G (p.Asp488Gly)	single nucleotide variant	not specified [RCV004236451]	Chr8:132071346 [GRCh38] Chr8:133083593 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.408G>T (p.Arg136Ser)	single nucleotide variant	not specified [RCV004169693]	Chr8:132095559 [GRCh38] Chr8:133107806 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1246C>T (p.Leu416Phe)	single nucleotide variant	not specified [RCV004224572]	Chr8:132076124 [GRCh38] Chr8:133088371 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.880G>T (p.Ala294Ser)	single nucleotide variant	not specified [RCV004130532]	Chr8:132079763 [GRCh38] Chr8:133092010 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1535G>T (p.Arg512Met)	single nucleotide variant	not specified [RCV004107729]	Chr8:132065903 [GRCh38] Chr8:133078150 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.598C>T (p.Leu200Phe)	single nucleotide variant	not specified [RCV004148506]	Chr8:132087731 [GRCh38] Chr8:133099978 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.19C>T (p.Arg7Cys)	single nucleotide variant	not specified [RCV004203207]	Chr8:132105247 [GRCh38] Chr8:133117494 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1087G>A (p.Ala363Thr)	single nucleotide variant	not specified [RCV004069601]	Chr8:132077810 [GRCh38] Chr8:133090057 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.913C>G (p.Leu305Val)	single nucleotide variant	not specified [RCV004214956]	Chr8:132079730 [GRCh38] Chr8:133091977 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.994G>T (p.Val332Leu)	single nucleotide variant	not specified [RCV004103545]	Chr8:132077903 [GRCh38] Chr8:133090150 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1291G>A (p.Val431Ile)	single nucleotide variant	not specified [RCV004143278]	Chr8:132076079 [GRCh38] Chr8:133088326 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.285C>A (p.Ser95Arg)	single nucleotide variant	not specified [RCV004157507]	Chr8:132095782 [GRCh38] Chr8:133108029 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.59T>C (p.Val20Ala)	single nucleotide variant	not specified [RCV004133563]	Chr8:132105207 [GRCh38] Chr8:133117454 [GRCh37] Chr8:8q24.22	uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	copy number gain	Distal trisomy 8q [RCV003325441]	Chr8:131138343..143473913 [GRCh37] Chr8:8q24.21-24.3	pathogenic
NM_001145095.3(HHLA1):c.754G>A (p.Gly252Arg)	single nucleotide variant	not specified [RCV004249744]	Chr8:132079889 [GRCh38] Chr8:133092136 [GRCh37] Chr8:8q24.22	likely benign
NM_001145095.3(HHLA1):c.989C>T (p.Ser330Leu)	single nucleotide variant	not specified [RCV004259593]	Chr8:132077908 [GRCh38] Chr8:133090155 [GRCh37] Chr8:8q24.22	likely benign
NM_001145095.3(HHLA1):c.560T>C (p.Ile187Thr)	single nucleotide variant	not specified [RCV004357478]	Chr8:132087874 [GRCh38] Chr8:133100121 [GRCh37] Chr8:8q24.22	uncertain significance
GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1	copy number loss	not provided [RCV003483040]	Chr8:131958531..136738670 [GRCh37] Chr8:8q24.22-24.23	uncertain significance
NM_001145095.3(HHLA1):c.1080C>T (p.Thr360=)	single nucleotide variant	not provided [RCV003440647]	Chr8:132077817 [GRCh38] Chr8:133090064 [GRCh37] Chr8:8q24.22	likely benign
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 8q24.22(chr8:132812615-133245950)x3	copy number gain	not specified [RCV003986780]	Chr8:132812615..133245950 [GRCh37] Chr8:8q24.22	uncertain significance
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_001145095.3(HHLA1):c.668G>C (p.Gly223Ala)	single nucleotide variant	not specified [RCV004397075]	Chr8:132087661 [GRCh38] Chr8:133099908 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.617T>C (p.Ile206Thr)	single nucleotide variant	not specified [RCV004397073]	Chr8:132087712 [GRCh38] Chr8:133099959 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.290A>T (p.Lys97Met)	single nucleotide variant	not specified [RCV004397070]	Chr8:132095777 [GRCh38] Chr8:133108024 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.197C>T (p.Thr66Met)	single nucleotide variant	not specified [RCV004397068]	Chr8:132100077 [GRCh38] Chr8:133112324 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1427G>A (p.Cys476Tyr)	single nucleotide variant	not specified [RCV004397067]	Chr8:132071382 [GRCh38] Chr8:133083629 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.31A>G (p.Met11Val)	single nucleotide variant	not specified [RCV004397071]	Chr8:132105235 [GRCh38] Chr8:133117482 [GRCh37] Chr8:8q24.22	likely benign
NM_001145095.3(HHLA1):c.455C>T (p.Thr152Ile)	single nucleotide variant	not specified [RCV004397072]	Chr8:132089593 [GRCh38] Chr8:133101840 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.242C>G (p.Thr81Arg)	single nucleotide variant	not specified [RCV004397069]	Chr8:132098920 [GRCh38] Chr8:133111167 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1270G>T (p.Ala424Ser)	single nucleotide variant	not specified [RCV004397066]	Chr8:132076100 [GRCh38] Chr8:133088347 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.872C>T (p.Pro291Leu)	single nucleotide variant	not specified [RCV004630596]	Chr8:132079771 [GRCh38] Chr8:133092018 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1274G>C (p.Gly425Ala)	single nucleotide variant	not specified [RCV004630597]	Chr8:132076096 [GRCh38] Chr8:133088343 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1037C>G (p.Ser346Cys)	single nucleotide variant	not specified [RCV004630598]	Chr8:132077860 [GRCh38] Chr8:133090107 [GRCh37] Chr8:8q24.22	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
NM_001145095.3(HHLA1):c.403A>C (p.Thr135Pro)	single nucleotide variant	not specified [RCV004925993]	Chr8:132095564 [GRCh38] Chr8:133107811 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.136A>T (p.Thr46Ser)	single nucleotide variant	not specified [RCV004925994]	Chr8:132104111 [GRCh38] Chr8:133116358 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.577A>G (p.Thr193Ala)	single nucleotide variant	not specified [RCV004925996]	Chr8:132087857 [GRCh38] Chr8:133100104 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.824C>T (p.Pro275Leu)	single nucleotide variant	not specified [RCV004925997]	Chr8:132079819 [GRCh38] Chr8:133092066 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.65C>G (p.Ser22Cys)	single nucleotide variant	not specified [RCV004925998]	Chr8:132105201 [GRCh38] Chr8:133117448 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.740C>G (p.Pro247Arg)	single nucleotide variant	not specified [RCV004925999]	Chr8:132079903 [GRCh38] Chr8:133092150 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.511A>G (p.Lys171Glu)	single nucleotide variant	not specified [RCV004926000]	Chr8:132089537 [GRCh38] Chr8:133101784 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1121C>T (p.Ala374Val)	single nucleotide variant	not specified [RCV004926003]	Chr8:132077776 [GRCh38] Chr8:133090023 [GRCh37] Chr8:8q24.22	uncertain significance
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 8q21.2-24.3(chr8:84712253-146295771)x3	copy number gain	See cases [RCV002285066]	Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_001145095.3(HHLA1):c.657C>A (p.Ser219Arg)	single nucleotide variant	not specified [RCV004397074]	Chr8:132087672 [GRCh38] Chr8:133099919 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.425A>G (p.Asn142Ser)	single nucleotide variant	not specified [RCV004630592]	Chr8:132095542 [GRCh38] Chr8:133107789 [GRCh37] Chr8:8q24.22	likely benign
NM_001145095.3(HHLA1):c.974C>T (p.Thr325Met)	single nucleotide variant	not specified [RCV004630593]	Chr8:132077923 [GRCh38] Chr8:133090170 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1360C>T (p.Pro454Ser)	single nucleotide variant	not specified [RCV004630594]	Chr8:132071449 [GRCh38] Chr8:133083696 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.67C>G (p.Leu23Val)	single nucleotide variant	not specified [RCV004630595]	Chr8:132105199 [GRCh38] Chr8:133117446 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.169G>A (p.Glu57Lys)	single nucleotide variant	not specified [RCV004925995]	Chr8:132100105 [GRCh38] Chr8:133112352 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1279G>A (p.Glu427Lys)	single nucleotide variant	not specified [RCV004926001]	Chr8:132076091 [GRCh38] Chr8:133088338 [GRCh37] Chr8:8q24.22	uncertain significance
NM_001145095.3(HHLA1):c.1052G>A (p.Arg351His)	single nucleotide variant	not specified [RCV004926002]	Chr8:132077845 [GRCh38] Chr8:133090092 [GRCh37] Chr8:8q24.22	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1348
Count of miRNA genes:	836
Interacting mature miRNAs:	977
Transcripts:	ENST00000414222, ENST00000434736, ENST00000473291
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407051857	GWAS700833_H	esophageal squamous cell carcinoma QTL GWAS700833 (human)		0.000008	esophageal squamous cell carcinoma		8	132107714	132107715	Human
597330361	GWAS1426435_H	colorectal cancer QTL GWAS1426435 (human)		2e-08	colorectal cancer		8	132094378	132094379	Human
407026654	GWAS675630_H	sensory perception of taste QTL GWAS675630 (human)		0.0000009	sensory perception of taste		8	132091043	132091044	Human

D8S557

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	133,090,242 - 133,090,484	UniSTS	GRCh37
GRCh37	8	133,090,345 - 133,090,481	UniSTS	GRCh37
Build 36	8	133,159,424 - 133,159,666	RGD	NCBI36
Celera	8	129,266,044 - 129,266,180	UniSTS
Celera	8	129,265,941 - 129,266,183	RGD
Cytogenetic Map	8	q24	UniSTS
HuRef	8	128,407,897 - 128,408,023	UniSTS
HuRef	8	128,407,794 - 128,408,026	UniSTS
Marshfield Genetic Map	8	145.97	UniSTS
Marshfield Genetic Map	8	145.97	RGD
Genethon Genetic Map	8	144.8	UniSTS
TNG Radiation Hybrid Map	8	64698.0	UniSTS
deCODE Assembly Map	8	142.18	UniSTS
GeneMap99-GB4 RH Map	8	508.31	UniSTS
Whitehead-YAC Contig Map	8		UniSTS
NCBI RH Map	8	1493.7	UniSTS
GeneMap99-G3 RH Map	8	4187.0	UniSTS

RH122232

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	133,075,714 - 133,075,993	UniSTS	GRCh37
Build 36	8	133,144,896 - 133,145,175	RGD	NCBI36
Celera	8	129,251,418 - 129,251,697	RGD
Cytogenetic Map	8	q24	UniSTS
HuRef	8	128,393,267 - 128,393,546	UniSTS
TNG Radiation Hybrid Map	8	64724.0	UniSTS

D8S557

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	8	q24	UniSTS
TNG Radiation Hybrid Map	8	64698.0	UniSTS
GeneMap99-GB4 RH Map	8	508.31	UniSTS
NCBI RH Map	8	1493.7	UniSTS
GeneMap99-G3 RH Map	8	4187.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

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	renal system	reproductive system	respiratory system	sensory system
273	385	274	299	1960	768	962	4	58	360	51	593	1050	1032	52	1596	116	780	883	21


RefSeq Transcripts	NM_001145095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC100868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC131042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022619	(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

Ensembl Acc Id:

ENST00000414222 ⟹ ENSP00000388322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	132,061,480 - 132,111,157 (-)	Ensembl

Ensembl Acc Id:

ENST00000434736 ⟹ ENSP00000407107

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	132,069,675 - 132,111,159 (-)	Ensembl

Ensembl Acc Id:

ENST00000473291

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	132,063,785 - 132,081,104 (-)	Ensembl

Ensembl Acc Id:

ENST00000673615 ⟹ ENSP00000500443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	132,063,785 - 132,111,159 (-)	Ensembl

RefSeq Acc Id:

NM_001145095 ⟹ NP_001138567

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	132,061,480 - 132,111,157 (-)	NCBI
GRCh37	8	133,073,733 - 133,117,512 (-)	RGD
Celera	8	129,249,437 - 129,293,200 (-)	RGD
HuRef	8	128,391,286 - 128,435,044 (-)	ENTREZGENE
CHM1_1	8	133,114,543 - 133,158,318 (-)	NCBI
T2T-CHM13v2.0	8	133,184,384 - 133,234,063 (-)	NCBI

Sequence:

show sequence

TAATCTTTCTAGCTGTTTAAGTTCTTTGAAGTCAATTTATCCTGCTCAGAAGATAGGTGGGCCAGAGTATCACAAGCATGCTGGGCTTCCTGTCACGTGGTCCTTCAATGAAGCTGTGCATGGGCCTG
GCATGTGTCTTGTCCCTTTGGAACACAGTGTCTGGCATCAAAGGAGAAGCCAAGAAAGAGAAGGGAATGACCTTTTTACCTACAACAGTGTCTGGCCTTAGAGAAGAAGAGAGGAAGGAGAAGGGGGT
GGCATTTCTTGCTACGACGGAGCTGCCCGCAAGGTCAATCGATCTGTCCGCGCTTAACCTGACAGAGCTTGTGAATGGGATGCTCAGTAGAGCGTTAAAAGATAGCAAGAAGTTCTTCTCCTTGCTGA
GTGTCACTTCCTACAGTTCCTTCGCCTTCCACAAGTTTTCTGTAGCTGTTTACAACATTTCTAACCTGAAGACAGTAGACCCCGCCAAATTCCCCACAAGGTATTGCTACTGTTTAAACAATCGGACC
AATGACTTATCAGATTTTACAGCTCTACTGGTAGATATCATCGGCAATTCTACCAGCTACCTCACAGAGATTTTTAAGTCAACCTCCATCCTCTCAGTGAATCAAAGCAATGAATCAGATTGCATCTT
CATCTGTGTGATGACAGGAAAGTCAGGAAGGAATCTTTCTGACTTCTGGGAGATAGAAGAAAAATATCCCATTATCAATTACACATTTACCAGCGGCTTGTCTGGTGTTCTGGGTGCAGCTACCAGGG
GAACTGCCAGGACTTCAAAGCCCACAACCAAAAGCCAGAAAACACTACCAAGTACAAGCCCCGGACACTGGACCCAGAGCACACCCTGGGCATCTGCTCTGAGATCCTCTCCCTGGACAGAGACAGCT
GCTCCTTCAGAAACAGAGGAGACCCTGAACACAGGCAGGCCTCCTGAGCTTCCAGCCAGGGCCACAGCCACATGGTTCAGTGCCTCCCACACTCTCCCAGCCTTGGCTACCAGGAGGGTGGCCAGAAC
TCAGTGGTTGACAGCTGACAGACAGACGTGGGCTTCCATATCGTCCGTGCCCTGGGCTCAGACCATCAGTGAGAAAAAACCTGGAGGGTCTCTCTGGGAAACTCGTTCTTCCCCACCGACTACTGCAG
GGACCGAGGAAGCCATGAACACTACAAGCCTTTTGGCGCCTGCTGCTGAGATAATGGCCACACCTGGCAGCCCATCCCAGGCCAGCCCTACCTTGGGAGCATTCACCCATGGCACACAGACTCCGAGT
CCAACCAAGGCAACAGCCCCCAGATATCCACAAACAGGTGATCTCTCTGCAGAGTGGCCATTCACTGCTGGTGAAGAGCCAGTCCTGGTCCCAAGACCCCATCAAGTTTCAAGGTGTCCTCAGCCACT
CTTCAAGGTGGGAGCTATGGCAGCTGCTCCTCTCACCCTGGCTATTCAGAGGCTCAACCCATGCCTGATGGAGCTGTGCCAATTCTTCCAGCAATGCCTCTGCATGAGCCAGAGGAGTCCCAGGACAG
AGGACATGAGATACTGTCTTGAATACTATTCCTGGTTTCTGAAGAATGCAACATATATCTGTCAGAGGGTGAAAAGGGTGTCCCACTCGCACACCTTAAAGCAAAAGTGCCTTGAGAATATCTGCAAG
TCTGTGTGAGGCCTTGAAAATAACACTAGGGCATAACAATTACTTCAGGGGATACGCCATCCACCCTGGCTCTTGTCCCAAGTGGGCTACATTTGAAGAATTCACCCAGGCTCCAGCTAGATCATCAG
TTAATTTAAAGTGGTTATTCTTGGAAGTAGCATTTTTTTTCCCTCTCCTGTGAATCTGTGCAAAACATTGAAGGTAGAAGTTTTCTTGTTAGAGGCCTCACAATTAATACAGTAATGCCAGACTCCTT
GCCTGCTTCAAAATCATGGAAATCTAGTGTTCATGCTCAAGAAACTCCTACAATGCTTGAGGCAATCCTGACAATTTAAAAACTGGGGATGCGTGGGCACTCTAGCCTGCACAAACCAGTTCAGCCAT
GGAGACTCTGACACAATACCTGAGGTGACTTAAACTTGAGACTTTTGAAAGACAACAAAAGCATAAATTAATATTGAATTCATACTCTAGAGAGATTCACATATACTGATAGTTAACTAATACATGTA
CAACCAATCAGACTTGCCATGGTATGGGATCTATATAATCTTCCAAGCCCCCTTAAGTGGGCGATAATGAAAACTTTATCATTAGGAGGAGGTTTAGAGAGTTGTTTTTATTGACATCTTGTCTTGAT
TCCTCTTCTGTGTGACCCACTGGATTCAGAGGTCCCCATGAGCACCCTCAGGTTCAATGATTCATGAGTAGAACTCAGAGGTAGGGAAAACTGTTATATGCACATTTAGCATTTATTACAACAAAAGG
ATGCAGATGAAAAGCAGCAAATGTGAAAGGCACCTCTAGAGAGAGTCCAAGAGAGCCCAGGCACAAGCTTCCAGTGGGGTTGCACAGTCAGCATCTAATCCTCCCAGAAATAATGTTTAACAACACGT
GGAGTATTGTCAGCCAGGAAAGCTCATCCAAGTTTTGGTGTCCAGGGGATGTTTGGGGGTATGGAGTAGGTATGGAGTGCCTTCATGGCCTGCATGGCTAAACTTAGTTATTCAGTCTCCAGTCCCTC
TAGAGGTCAAGCTGATACTGCACGACCTAAGGCCCCACCATAAATCACATTGTTAACATAAACTATCTGTCATGGCACGAAGCCCCAGGTACAAGAGACACTCATCAGGCAGGATATTCCAAGGATTT
ACAGGGGATTCCCCAGGAGCTGGTCAAGGACCAGATGTTCCTCTGAAAGGTGCAGGATTTGAGCTCATCTGTGGAGTACGTCTGTGGAGTCAACTTTCTTCTGCATCCCCACATACTGATTTGCCACC
TTCATTGTATCAGATTCCTTTTTCACTATATTCAGGTTTGCGGTTGCTCCAGTATCCCTATCTATGCTGAGTCTCCACGTAGAGCATGTGTGCCCTCTCCAGTGGCTCTGCACGGACCCCTTATTTCT
CATTACCAGGGACAGTTTTTCTCCTGATGTGCCTGGTGCTCCTTCTCCACTCTCTTGCCTTAGGACTCTGCTGGGCCATGAGTATTTTTTTTACCCTTTTGTGACCTAGGGCTGCCCTTGGGTGAGGA
AAGTCACTTTCTGTTCATCATCTAAGTAGAAAACAGTTTCTGCCATTGGAAGACCCCTGAGTTCCCTGGCACTCCTGTGAACCACAAGGTGCCTGGGGAGGTAGAACTTGGACATTGGAGAGAGGAGC
AGCCAGACATTTCTCTTTCTAATCATATGCAGAAAGATTTCTTTTTATTCTCCAGAACACTTGAAAGACTCTCCAAGTTATGCAAATGTCAAGCTCATAAATGTATATTATCATGACTTTTGCAAAGA
TGAAGAGGATACAGCAAATTTTCTGGGAGGCAAAGGGACTTCTACCTGGATAGGAACCAAGCAAACTCATTAAGCATGGATTAATTTGATTCAACCCTTGCGTGGATATTAATTAAGGACCTTTGACA
GGAGAGGGTCCTCAAGGTTCCTCAAAGAGTAACTTATCATCAAGGAAGGTGAAGAATGGATGGATGGCTTGGGCCCAAGACTGGGGCTATTCACTTGTGGGGAAACCCATGTGAACCCAGTTACCCCA
TACTTTGGGAATAATGACTGAGCATGACTATAATCTTTAAGAAGCTCAAATGCGGAATACCTCTGAGGCTTATGCAAGGATCTGGCCTAGCATCAAGGACAAAGGCTCAGAGGACTCCTTGGGGCCAG
TTTTCTACAGTCATACCATCAGCCACAACAGCAGCAAAGGCAGAAGGAAAACAGGGCCCAGGAGTGGCTGACGACTGCCTGGAGTCCAACTGGTCTCCTGGAGTTCATAAGAGGTTTGACCCCTTCTG
AGCTGAATGTGTCCTGATTTAGGGGATAGCTAGGGCAATAAGAAAGCCTCAGGGGGTGCTACTGATCTGGAACTCCTACTAATTAGTGTGTATGTATGTGGCCACCAGTGGTTAGCAGATGAGGTGAA
AGAGATGGGACAGTGACTGTATCTGTTCTGATGAAGGAGATTGTGCAGTTACATGCGTAACGTCATTAAACTTCATTCTTCCAGGTAGCAAA

hide sequence


Protein RefSeqs	NP_001138567	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	C9JL84	(Get FASTA)	NCBI Sequence Viewer
	EAW92139	(Get FASTA)	NCBI Sequence Viewer
	EAW92140	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000388322
	ENSP00000388322.1

RefSeq Acc Id:	NP_001138567 ⟸ NM_001145095
- Peptide Label:	precursor
- UniProtKB:	C9JL84 (UniProtKB/Swiss-Prot), A0A5F9ZHM0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLGFLSRGPSMKLCMGLACVLSLWNTVSGIKGEAKKEKGMTFLPTTVSGLREEERKEKGVAFLATTELPARSIDLSALNLTELVNGMLSRALKDSKKFFSLLSVTSYSSFAFHKFSVAVYNISNLKTV DPAKFPTRYCYCLNNRTNDLSDFTALLVDIIGNSTSYLTEIFKSTSILSVNQSNESDCIFICVMTGKSGRNLSDFWEIEEKYPIINYTFTSGLSGVLGAATRGTARTSKPTTKSQKTLPSTSPGHWTQ STPWASALRSSPWTETAAPSETEETLNTGRPPELPARATATWFSASHTLPALATRRVARTQWLTADRQTWASISSVPWAQTISEKKPGGSLWETRSSPPTTAGTEEAMNTTSLLAPAAEIMATPGSPS QASPTLGAFTHGTQTPSPTKATAPRYPQTGDLSAEWPFTAGEEPVLVPRPHQVSRCPQPLFKVGAMAAAPLTLAIQRLNPCLMELCQFFQQCLCMSQRSPRTEDMRYCLEYYSWFLKNATYICQRVKR VSHSHTLKQKCLENICKSV hide sequence

Ensembl Acc Id:

ENSP00000500443 ⟸ ENST00000673615

Ensembl Acc Id:

ENSP00000388322 ⟸ ENST00000414222

Ensembl Acc Id:

ENSP00000407107 ⟸ ENST00000434736

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-C9JL84-F1-model_v2	AlphaFold	C9JL84	1-531	view protein structure

Database	Acc Id	Source(s)
COSMIC	HHLA1	COSMIC
Ensembl Genes	ENSG00000132297	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000414222	ENTREZGENE
	ENST00000414222.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000132297	GTEx
HGNC ID	HGNC:4904	ENTREZGENE
Human Proteome Map	HHLA1	Human Proteome Map
InterPro	HHLA1	UniProtKB/Swiss-Prot
KEGG Report	hsa:10086	UniProtKB/Swiss-Prot
NCBI Gene	10086	ENTREZGENE
OMIM	604109	OMIM
PANTHER	HERV-H LTR-ASSOCIATING PROTEIN 1	UniProtKB/Swiss-Prot
	PTHR15299	UniProtKB/Swiss-Prot
PharmGKB	PA29277	PharmGKB
UniProt	A0A5F9ZHM0	ENTREZGENE, UniProtKB/TrEMBL
	C9JL84	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-05-08	HHLA1	HHLA1 neighbor of OC90	HHLA1	HERV-H LTR-associating 1	Symbol and/or name change	19259463	PROVISIONAL

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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