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Gene: HEPHL1 (hephaestin like 1) Homo sapiens

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Symbol:

HEPHL1

Name:

hephaestin like 1

RGD ID:

1345614

HGNC Page

HGNC:30477

Description:

Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp686F22190; ferroxidase HEPHL1; hephaestin-like 1; hephaestin-like protein 1; HJDD; ZP; zyklopen

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Hephl1 (hephaestin-like 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Hephl1 (hephaestin-like 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Hephl1 (hephaestin like 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HEPHL1 (hephaestin like 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	HEPHL1 (hephaestin like 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hephl1 (hephaestin like 1)	NCBI	Ortholog
Sus scrofa (pig):	HEPHL1 (hephaestin like 1)	HGNC	Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HEPHL1 (hephaestin like 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hephl1 (hephaestin like 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Cp (ceruloplasmin)	HGNC	OrthoMCL
Mus musculus (house mouse):	Heph (hephaestin)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Hephl1 (hephaestin-like 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Hephl1 (hephaestin-like 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	hephl1a (hephaestin-like 1a)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	hephl1b (hephaestin-like 1b)	Alliance	DIOPT (Hieranoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|ZFIN)
Xenopus laevis (African clawed frog):	hephl1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	hephl1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)

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	11	94,021,354 - 94,114,208 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	94,021,354 - 94,114,208 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	93,754,520 - 93,847,374 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	93,394,026 - 93,487,022 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	91,042,195 - 91,135,169 (+)	NCBI		Celera
Cytogenetic Map	11	q21	NCBI
HuRef	11	89,829,206 - 89,922,514 (+)	NCBI		HuRef
CHM1_1	11	93,637,403 - 93,730,368 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	93,938,102 - 94,030,957 (+)	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)
HEPHL1	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
HEPHL1	Human	Lichen Planus Follicularis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Lichen planus follicularis	ClinVar
HEPHL1	Human	Pili Torti, Developmental Delay, Neurological Abnormalities		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
HEPHL1	Human	Pili Torti, Developmental Delay, Neurological Abnormalities		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
HEPHL1	Human	Pili Torti, Developmental Delay, Neurological Abnormalities		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Pili torti and developmental delay	ClinVar	PMID:31125343
HEPHL1	Human	Pili Torti, Developmental Delay, Neurological Abnormalities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: HEPHL1-related condition	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Human	Pili Torti, Developmental Delay, Neurological Abnormalities		IAGP		7240710		OMIM

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of HEPHL1 mRNA	CTD	PMID:30851411
HEPHL1	Human	4-hydroxyphenyl retinamide	decreases expression	ISO	Hephl1 (Mus musculus)	6480464	Fenretinide results in decreased expression of HEPHL1 mRNA	CTD	PMID:28973697
HEPHL1	Human	all-trans-retinoic acid	multiple interactions	ISO	Hephl1 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of HEPHL1 mRNA	CTD	PMID:36189433
HEPHL1	Human	alpha-Zearalanol	multiple interactions	ISO	Hephl1 (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] affects the expression of HEPHL1 mRNA	CTD	PMID:35163327
HEPHL1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of HEPHL1 promoter	CTD	PMID:27901495
HEPHL1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of HEPHL1 3' UTR	CTD	PMID:27901495
HEPHL1	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	Hephl1 (Mus musculus)	6480464	Diethylhexyl Phthalate results in decreased expression of HEPHL1 mRNA	CTD	PMID:27405655
HEPHL1	Human	bisphenol A	decreases expression	ISO	Hephl1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of HEPHL1 mRNA	CTD	PMID:25181051
HEPHL1	Human	bisphenol A	decreases expression	ISO	Hephl1 (Mus musculus)	6480464	bisphenol A results in decreased expression of HEPHL1 mRNA	CTD	PMID:32156529
HEPHL1	Human	bisphenol A	increases methylation	ISO	Hephl1 (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of HEPHL1 gene	CTD	PMID:28505145
HEPHL1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to HEPHL1 gene]	CTD	PMID:28238834
HEPHL1	Human	chlorpyrifos	decreases expression	ISO	Hephl1 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of HEPHL1 mRNA	CTD	PMID:37019170
HEPHL1	Human	copper atom	affects binding	EXP		6480464	Copper binds to HEPHL1 protein	CTD	PMID:20685892
HEPHL1	Human	copper atom	decreases expression	EXP		6480464	Copper deficiency results in decreased expression of HEPHL1 protein	CTD	PMID:20685892
HEPHL1	Human	copper(0)	affects binding	EXP		6480464	Copper binds to HEPHL1 protein	CTD	PMID:20685892
HEPHL1	Human	copper(0)	decreases expression	EXP		6480464	Copper deficiency results in decreased expression of HEPHL1 protein	CTD	PMID:20685892
HEPHL1	Human	epoxiconazole	increases expression	ISO	Hephl1 (Mus musculus)	6480464	epoxiconazole results in increased expression of HEPHL1 mRNA	CTD	PMID:35436446
HEPHL1	Human	lipopolysaccharide	increases expression	EXP		6480464	Lipopolysaccharides results in increased expression of HEPHL1 mRNA	CTD	PMID:35811015
HEPHL1	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of HEPHL1 mRNA	CTD	PMID:35811015
HEPHL1	Human	microcystin-LR	decreases expression	EXP		6480464	cyanoginosin LR results in decreased expression of HEPHL1 mRNA	CTD	PMID:29518473
HEPHL1	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	Hephl1 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of HEPHL1 mRNA	CTD	PMID:36189433
HEPHL1	Human	mono(2-ethylhexyl) phthalate	decreases expression	ISO	Hephl1 (Mus musculus)	6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of HEPHL1 mRNA	CTD	PMID:36189433
HEPHL1	Human	paracetamol	decreases expression	ISO	Hephl1 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of HEPHL1 mRNA	CTD	PMID:30723492
HEPHL1	Human	perfluorooctanoic acid	increases expression	ISO	Hephl1 (Rattus norvegicus)	6480464	perfluorooctanoic acid results in increased expression of HEPHL1 mRNA	CTD	PMID:35163327
HEPHL1	Human	perfluorooctanoic acid	multiple interactions	ISO	Hephl1 (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] affects the expression of HEPHL1 mRNA	CTD	PMID:35163327
HEPHL1	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of HEPHL1 mRNA	CTD	PMID:30851411
HEPHL1	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of HEPHL1 mRNA	CTD	PMID:35811015
HEPHL1	Human	sodium arsenite	decreases expression	ISO	Hephl1 (Mus musculus)	6480464	sodium arsenite results in decreased expression of HEPHL1 mRNA	CTD	PMID:36209798
HEPHL1	Human	vinclozolin	decreases methylation	ISO	Hephl1 (Rattus norvegicus)	6480464	vinclozolin results in decreased methylation of HEPHL1 gene	CTD	PMID:31682807

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Human	copper ion transport	involved_in	IEA	UniProtKB-KW:KW-0187	150520179		UniProt	GO_REF:0000043
HEPHL1	Human	intracellular iron ion homeostasis	involved_in	IMP		150520179	PMID:31125343	UniProt	PMID:31125343
HEPHL1	Human	monoatomic ion transport	involved_in	IEA	UniProtKB-KW:KW-0406	150520179		UniProt	GO_REF:0000043

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)
HEPHL1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
HEPHL1	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
HEPHL1	Human	plasma membrane	is_active_in	IBA	PANTHER:PTN000194708 and UniProtKB:Q9BQS7	150520179		GO_Central	GO_REF:0000033

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Human	copper ion binding	enables	IEA	InterPro:IPR002355 more ...	150520179		InterPro	GO_REF:0000002
HEPHL1	Human	ferroxidase activity	enables	IBA	MGI:1332240 more ...	150520179		GO_Central	GO_REF:0000033
HEPHL1	Human	ferroxidase activity	enables	IEA	RHEA:11148	150520179		RHEA	GO_REF:0000116
HEPHL1	Human	ferroxidase activity	enables	IEA	EC:1.16.3.1	150520179		UniProt	GO_REF:0000003
HEPHL1	Human	ferroxidase activity	enables	IDA		150520179	PMID:20685892 and PMID:31125343	MGI	PMID:20685892 and PMID:31125343
HEPHL1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
HEPHL1	Human	oxidoreductase activity	enables	IEA	InterPro:IPR011706	150520179		InterPro	GO_REF:0000002
HEPHL1	Human	oxidoreductase activity	enables	IEA	UniProtKB-KW:KW-0560	150520179		UniProt	GO_REF:0000043

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Human	2-3 toe syndactyly		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Aggressive behavior		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Alopecia		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Clinodactyly of the 4th toe		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Clinodactyly of the 5th toe		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Developmental regression		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Dysarthria		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Elfin facies		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Fatigue		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Fragile nails		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Global developmental delay		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Impulsivity		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Increased carrying angle		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Joint hypermobility		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Keratosis pilaris		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Lower limb pain		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Microdontia		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Mitral regurgitation		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Pili torti		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Plagiocephaly		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Poor speech		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Recurrent fever		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Recurrent otitis media		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Short fifth metatarsal		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Short fourth metatarsal		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Sinus bradycardia		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Small nail		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Snoring		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Sparse lateral eyebrow		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Trichorrhexis nodosa		IAGP		8699517		HPO	MIM:261990 and PMID:31125343
HEPHL1	Human	Tricuspid regurgitation		IAGP		8699517		HPO	MIM:261990 and PMID:31125343

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

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

PMID:20379614	PMID:20685892	PMID:21873635	PMID:23251661	PMID:26186194	PMID:28514442	PMID:30021884	PMID:31125343	PMID:32807901	PMID:33022573	PMID:33961781	PMID:34114013

HEPHL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	94,021,354 - 94,114,208 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	94,021,354 - 94,114,208 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	93,754,520 - 93,847,374 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	93,394,026 - 93,487,022 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	91,042,195 - 91,135,169 (+)	NCBI		Celera
Cytogenetic Map	11	q21	NCBI
HuRef	11	89,829,206 - 89,922,514 (+)	NCBI		HuRef
CHM1_1	11	93,637,403 - 93,730,368 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	93,938,102 - 94,030,957 (+)	NCBI		T2T-CHM13v2.0

Hephl1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	14,963,137 - 15,023,466 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	14,963,137 - 15,023,404 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	15,051,841 - 15,112,170 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	15,051,841 - 15,112,108 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	14,856,285 - 14,916,552 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	14,804,011 - 14,862,497 (-)	NCBI		MGSCv36	mm8
Celera	9	12,332,719 - 12,393,081 (-)	NCBI		Celera
Cytogenetic Map	9	A2	NCBI

Hephl1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	20,178,190 - 20,246,698 (-)	NCBI		GRCr8
mRatBN7.2	8	11,896,768 - 11,965,282 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	11,898,532 - 11,965,267 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	15,880,896 - 15,949,552 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	14,178,657 - 14,247,294 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	12,160,022 - 12,228,389 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	13,614,800 - 13,680,870 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	13,614,800 - 13,680,870 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	13,555,911 - 13,622,279 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	11,858,152 - 11,925,452 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	8	13,367,554 - 13,434,143 (-)	NCBI		Celera
Cytogenetic Map	8	q12	NCBI

Hephl1
(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_004955414	461,212 - 551,323 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	461,212 - 551,323 (-)	NCBI	ChiLan1.0	ChiLan1.0

HEPHL1
(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	9	94,875,671 - 94,969,244 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	95,967,401 - 96,060,643 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	89,035,265 - 89,127,508 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	92,521,421 - 92,613,455 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	92,521,421 - 92,613,455 (+)	Ensembl	panpan1.1		panPan2

HEPHL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	6,720,472 - 6,813,946 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	6,716,562 - 6,814,486 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	6,729,881 - 6,823,331 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	6,900,421 - 6,994,141 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	6,901,997 - 6,994,165 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	6,681,088 - 6,774,590 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	6,750,370 - 6,844,426 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	6,800,696 - 6,894,096 (-)	NCBI		UU_Cfam_GSD_1.0

Hephl1
(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_024404947	79,045,306 - 79,115,031 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936674	778,160 - 846,119 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936674	778,160 - 846,119 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HEPHL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	26,355,996 - 26,437,442 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	26,356,159 - 26,438,315 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	30,088,640 - 30,170,534 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HEPHL1
(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	1	85,268,791 - 85,348,816 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	85,269,726 - 85,346,988 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	40,462,062 - 40,538,402 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hephl1
(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	38,687,298 - 38,755,523 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	38,687,298 - 38,757,256 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in HEPHL1
135 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
NM_001098672.1(HEPHL1):c.96G>A (p.Gly32=)	single nucleotide variant	Malignant melanoma [RCV000069755]	Chr11:94021464 [GRCh38] Chr11:93754630 [GRCh37] Chr11:93394278 [NCBI36] Chr11:11q21	not provided
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1	copy number loss	See cases [RCV000446395]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	copy number loss	See cases [RCV000138038]	Chr11:91086659..109595582 [GRCh38] Chr11:90819827..109466308 [GRCh37] Chr11:90459475..108971518 [NCBI36] Chr11:11q14.3-22.3	pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	copy number loss	See cases [RCV000510457]	Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001098672.2(HEPHL1):c.1168C>A (p.Leu390Ile)	single nucleotide variant	not specified [RCV004322489]	Chr11:94070478 [GRCh38] Chr11:93803644 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3	copy number gain	not provided [RCV000750120]	Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp)	single nucleotide variant	HEPHL1-related disorder [RCV003976037]\|Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702211]\|not provided [RCV004707686]	Chr11:94064453 [GRCh38] Chr11:93797619 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2262C>T (p.Phe754=)	single nucleotide variant	HEPHL1-related disorder [RCV003930488]\|not provided [RCV000879814]	Chr11:94088936 [GRCh38] Chr11:93822102 [GRCh37] Chr11:11q21	benign\|likely benign
NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr)	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV000786055]	Chr11:94067750 [GRCh38] Chr11:93800916 [GRCh37] Chr11:11q21	pathogenic
NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr)	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV000786056]	Chr11:94111033 [GRCh38] Chr11:93844199 [GRCh37] Chr11:11q21	pathogenic
GRCh37/hg19 11q21(chr11:93297444-94041273)x3	copy number gain	not provided [RCV001006434]	Chr11:93297444..94041273 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.100G>T (p.Val34Leu)	single nucleotide variant	not specified [RCV004288093]	Chr11:94021468 [GRCh38] Chr11:93754634 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
NM_001098672.2(HEPHL1):c.715T>C (p.Trp239Arg)	single nucleotide variant	not specified [RCV004302986]	Chr11:94064417 [GRCh38] Chr11:93797583 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3361A>G (p.Ile1121Val)	single nucleotide variant	not specified [RCV004319326]	Chr11:94111775 [GRCh38] Chr11:93844941 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2427A>T (p.Glu809Asp)	single nucleotide variant	not specified [RCV004286122]	Chr11:94093633 [GRCh38] Chr11:93826799 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2140T>C (p.Tyr714His)	single nucleotide variant	not specified [RCV004295298]	Chr11:94088814 [GRCh38] Chr11:93821980 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3046-35G>T	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702348]\|not provided [RCV004707688]	Chr11:94110868 [GRCh38] Chr11:93844034 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2968A>C (p.Asn990His)	single nucleotide variant	not provided [RCV001280792]\|not specified [RCV004035516]	Chr11:94106053 [GRCh38] Chr11:93839219 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter)	single nucleotide variant	not provided [RCV001280796]	Chr11:94104702 [GRCh38] Chr11:93837868 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV001375938]	Chr11:94110907 [GRCh38] Chr11:93844073 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1232+9C>G	single nucleotide variant	HEPHL1-related disorder [RCV003976038]\|Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702347]\|not provided [RCV004707687]	Chr11:94070551 [GRCh38] Chr11:93803717 [GRCh37] Chr11:11q21	benign
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	copy number loss	not specified [RCV002052940]	Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1	pathogenic
GRCh37/hg19 11q21(chr11:93651515-93827032)x1	copy number loss	not provided [RCV001832919]	Chr11:93651515..93827032 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	copy number loss	not specified [RCV002052941]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
GRCh37/hg19 11q21(chr11:93475922-93778658)x1	copy number loss	not provided [RCV001834357]	Chr11:93475922..93778658 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.364C>T (p.Arg122Ter)	single nucleotide variant	not provided [RCV002223611]	Chr11:94045866 [GRCh38] Chr11:93779032 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.3280C>T (p.Arg1094Ter)	single nucleotide variant	Lichen planopilaris [RCV002251777]	Chr11:94111694 [GRCh38] Chr11:93844860 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1808G>A (p.Trp603Ter)	single nucleotide variant	not provided [RCV002275490]	Chr11:94082509 [GRCh38] Chr11:93815675 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del	deletion	Pili torti-developmental delay-neurological abnormalities syndrome [RCV002283425]	Chr11:93778838..93779084 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.1357C>T (p.His453Tyr)	single nucleotide variant	not specified [RCV004214211]	Chr11:94073149 [GRCh38] Chr11:93806315 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3061C>G (p.Arg1021Gly)	single nucleotide variant	not provided [RCV004695669]\|not specified [RCV004202468]	Chr11:94110918 [GRCh38] Chr11:93844084 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3212A>G (p.Asn1071Ser)	single nucleotide variant	not specified [RCV004217207]	Chr11:94111540 [GRCh38] Chr11:93844706 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3185C>G (p.Thr1062Ser)	single nucleotide variant	not specified [RCV004144237]	Chr11:94111042 [GRCh38] Chr11:93844208 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2262C>G (p.Phe754Leu)	single nucleotide variant	not specified [RCV004206339]	Chr11:94088936 [GRCh38] Chr11:93822102 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3449A>C (p.Gln1150Pro)	single nucleotide variant	not specified [RCV004103613]	Chr11:94111863 [GRCh38] Chr11:93845029 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.991C>T (p.Leu331Phe)	single nucleotide variant	not specified [RCV004126009]	Chr11:94067678 [GRCh38] Chr11:93800844 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3403C>A (p.Leu1135Ile)	single nucleotide variant	not specified [RCV004196239]	Chr11:94111817 [GRCh38] Chr11:93844983 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1498C>G (p.Leu500Val)	single nucleotide variant	not specified [RCV004197469]	Chr11:94073433 [GRCh38] Chr11:93806599 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.7C>T (p.Arg3Trp)	single nucleotide variant	not specified [RCV004119599]	Chr11:94021375 [GRCh38] Chr11:93754541 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1549A>G (p.Thr517Ala)	single nucleotide variant	not specified [RCV004143047]	Chr11:94075218 [GRCh38] Chr11:93808384 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2467G>A (p.Val823Ile)	single nucleotide variant	not specified [RCV004166698]	Chr11:94101227 [GRCh38] Chr11:93834393 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.2114A>G (p.His705Arg)	single nucleotide variant	not specified [RCV004099375]	Chr11:94088788 [GRCh38] Chr11:93821954 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.204C>G (p.Asn68Lys)	single nucleotide variant	not specified [RCV004227998]	Chr11:94045706 [GRCh38] Chr11:93778872 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.997A>G (p.Thr333Ala)	single nucleotide variant	not specified [RCV004158794]	Chr11:94067684 [GRCh38] Chr11:93800850 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2564T>A (p.Met855Lys)	single nucleotide variant	not specified [RCV004076223]	Chr11:94101324 [GRCh38] Chr11:93834490 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1304A>G (p.Glu435Gly)	single nucleotide variant	not specified [RCV004101390]	Chr11:94073096 [GRCh38] Chr11:93806262 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1221C>A (p.Asn407Lys)	single nucleotide variant	not specified [RCV004142996]	Chr11:94070531 [GRCh38] Chr11:93803697 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1813C>T (p.Pro605Ser)	single nucleotide variant	not specified [RCV004182717]	Chr11:94082514 [GRCh38] Chr11:93815680 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2317C>T (p.Arg773Cys)	single nucleotide variant	not specified [RCV004238935]	Chr11:94093523 [GRCh38] Chr11:93826689 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.287G>C (p.Trp96Ser)	single nucleotide variant	not specified [RCV004176261]	Chr11:94045789 [GRCh38] Chr11:93778955 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2889A>T (p.Glu963Asp)	single nucleotide variant	not specified [RCV004174722]	Chr11:94104734 [GRCh38] Chr11:93837900 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1303G>C (p.Glu435Gln)	single nucleotide variant	not specified [RCV004173098]	Chr11:94073095 [GRCh38] Chr11:93806261 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.257C>T (p.Thr86Ile)	single nucleotide variant	not specified [RCV004095590]	Chr11:94045759 [GRCh38] Chr11:93778925 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3043A>G (p.Lys1015Glu)	single nucleotide variant	not specified [RCV004305881]	Chr11:94106128 [GRCh38] Chr11:93839294 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2225T>C (p.Val742Ala)	single nucleotide variant	not specified [RCV004251739]	Chr11:94088899 [GRCh38] Chr11:93822065 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.518C>A (p.Ala173Glu)	single nucleotide variant	not specified [RCV004275568]	Chr11:94063610 [GRCh38] Chr11:93796776 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1219A>C (p.Asn407His)	single nucleotide variant	not specified [RCV004270487]	Chr11:94070529 [GRCh38] Chr11:93803695 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2044A>G (p.Met682Val)	single nucleotide variant	not specified [RCV004267435]	Chr11:94086153 [GRCh38] Chr11:93819319 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.228G>T (p.Lys76Asn)	single nucleotide variant	not specified [RCV004321086]	Chr11:94045730 [GRCh38] Chr11:93778896 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1576G>A (p.Val526Ile)	single nucleotide variant	not specified [RCV004302765]	Chr11:94075245 [GRCh38] Chr11:93808411 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3192G>A (p.Thr1064=)	single nucleotide variant	not provided [RCV003396018]	Chr11:94111049 [GRCh38] Chr11:93844215 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3085C>T (p.Pro1029Ser)	single nucleotide variant	not provided [RCV003456789]	Chr11:94110942 [GRCh38] Chr11:93844108 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.851T>C (p.Met284Thr)	single nucleotide variant	not provided [RCV003396017]	Chr11:94067538 [GRCh38] Chr11:93800704 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.573C>T (p.Asp191=)	single nucleotide variant	not provided [RCV003390122]	Chr11:94063665 [GRCh38] Chr11:93796831 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3270A>G (p.Pro1090=)	single nucleotide variant	not provided [RCV003396019]	Chr11:94111598 [GRCh38] Chr11:93844764 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.391G>A (p.Val131Ile)	single nucleotide variant	not provided [RCV003456788]	Chr11:94045893 [GRCh38] Chr11:93779059 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2607T>C (p.Pro869=)	single nucleotide variant	HEPHL1-related disorder [RCV003929034]\|not provided [RCV003390123]	Chr11:94102945 [GRCh38] Chr11:93836111 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.671G>A (p.Arg224Gln)	single nucleotide variant	HEPHL1-related disorder [RCV003976739]	Chr11:94064373 [GRCh38] Chr11:93797539 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2043C>T (p.His681=)	single nucleotide variant	HEPHL1-related disorder [RCV003959794]	Chr11:94086152 [GRCh38] Chr11:93819318 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3228C>T (p.Ser1076=)	single nucleotide variant	HEPHL1-related disorder [RCV003979118]	Chr11:94111556 [GRCh38] Chr11:93844722 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.1122G>C (p.Lys374Asn)	single nucleotide variant	HEPHL1-related disorder [RCV003964500]	Chr11:94070432 [GRCh38] Chr11:93803598 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.241C>T (p.Arg81Cys)	single nucleotide variant	HEPHL1-related disorder [RCV003894775]	Chr11:94045743 [GRCh38] Chr11:93778909 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.2760C>A (p.Asp920Glu)	single nucleotide variant	HEPHL1-related disorder [RCV003921986]	Chr11:94104605 [GRCh38] Chr11:93837771 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2109G>T (p.Met703Ile)	single nucleotide variant	HEPHL1-related disorder [RCV003922316]	Chr11:94088783 [GRCh38] Chr11:93821949 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3409C>T (p.Leu1137Phe)	single nucleotide variant	HEPHL1-related disorder [RCV003976594]	Chr11:94111823 [GRCh38] Chr11:93844989 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.3390G>A (p.Thr1130=)	single nucleotide variant	HEPHL1-related disorder [RCV003919818]\|not provided [RCV004810587]	Chr11:94111804 [GRCh38] Chr11:93844970 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.524C>T (p.Thr175Ile)	single nucleotide variant	HEPHL1-related disorder [RCV003942316]	Chr11:94063616 [GRCh38] Chr11:93796782 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.2411G>T (p.Arg804Leu)	single nucleotide variant	not specified [RCV004404135]	Chr11:94093617 [GRCh38] Chr11:93826783 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1012G>A (p.Glu338Lys)	single nucleotide variant	not specified [RCV004282293]	Chr11:94067699 [GRCh38] Chr11:93800865 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q21(chr11:93676223-94342737)x3	copy number gain	not provided [RCV001260146]	Chr11:93676223..94342737 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	copy number gain	not specified [RCV002052947]	Chr11:90906452..94437087 [GRCh37] Chr11:11q14.3-21	uncertain significance
NM_001098672.2(HEPHL1):c.2993G>A (p.Ser998Asn)	single nucleotide variant	not provided [RCV002224882]	Chr11:94106078 [GRCh38] Chr11:93839244 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1505-12_1511del	deletion	not provided [RCV002224881]	Chr11:94075157..94075175 [GRCh38] Chr11:93808323..93808341 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	copy number loss	not provided [RCV002475722]	Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3	pathogenic
NM_001098672.2(HEPHL1):c.2210T>A (p.Ile737Asn)	single nucleotide variant	not specified [RCV004178174]	Chr11:94088884 [GRCh38] Chr11:93822050 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1976T>C (p.Ile659Thr)	single nucleotide variant	not specified [RCV004090930]	Chr11:94086085 [GRCh38] Chr11:93819251 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2023T>C (p.Ser675Pro)	single nucleotide variant	not specified [RCV004118287]	Chr11:94086132 [GRCh38] Chr11:93819298 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2206T>C (p.Tyr736His)	single nucleotide variant	not specified [RCV004231458]	Chr11:94088880 [GRCh38] Chr11:93822046 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1540G>A (p.Glu514Lys)	single nucleotide variant	not specified [RCV004071251]	Chr11:94075209 [GRCh38] Chr11:93808375 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.219T>G (p.Ile73Met)	single nucleotide variant	not specified [RCV004263743]	Chr11:94045721 [GRCh38] Chr11:93778887 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1968G>A (p.Met656Ile)	single nucleotide variant	not specified [RCV004277524]	Chr11:94086077 [GRCh38] Chr11:93819243 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.641_644dup (p.Tyr215Ter)	duplication	Pili torti-developmental delay-neurological abnormalities syndrome [RCV003340777]	Chr11:94064339..94064340 [GRCh38] Chr11:93797505..93797506 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.2816A>G (p.Tyr939Cys)	single nucleotide variant	not specified [RCV004347367]	Chr11:94104661 [GRCh38] Chr11:93837827 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2321C>T (p.Thr774Ile)	single nucleotide variant	not specified [RCV004337271]	Chr11:94093527 [GRCh38] Chr11:93826693 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.285C>G (p.Pro95=)	single nucleotide variant	not provided [RCV003396016]	Chr11:94045787 [GRCh38] Chr11:93778953 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.1295G>A (p.Arg432Gln)	single nucleotide variant	HEPHL1-related disorder [RCV003917158]	Chr11:94073087 [GRCh38] Chr11:93806253 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.124C>T (p.Pro42Ser)	single nucleotide variant	not specified [RCV004404124]	Chr11:94021492 [GRCh38] Chr11:93754658 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1257A>C (p.Gln419His)	single nucleotide variant	not specified [RCV004404125]	Chr11:94073049 [GRCh38] Chr11:93806215 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1283A>G (p.Tyr428Cys)	single nucleotide variant	not specified [RCV004404127]	Chr11:94073075 [GRCh38] Chr11:93806241 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1396G>A (p.Gly466Ser)	single nucleotide variant	not specified [RCV004404128]	Chr11:94073331 [GRCh38] Chr11:93806497 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2281G>T (p.Ala761Ser)	single nucleotide variant	not specified [RCV004404132]	Chr11:94088955 [GRCh38] Chr11:93822121 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2327A>G (p.Asn776Ser)	single nucleotide variant	not specified [RCV004404133]	Chr11:94093533 [GRCh38] Chr11:93826699 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2638A>G (p.Asn880Asp)	single nucleotide variant	not specified [RCV004404137]	Chr11:94102976 [GRCh38] Chr11:93836142 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3254A>G (p.His1085Arg)	single nucleotide variant	not specified [RCV004404140]	Chr11:94111582 [GRCh38] Chr11:93844748 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3269C>T (p.Pro1090Leu)	single nucleotide variant	not specified [RCV004404141]	Chr11:94111597 [GRCh38] Chr11:93844763 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3365T>C (p.Ile1122Thr)	single nucleotide variant	not specified [RCV004404142]	Chr11:94111779 [GRCh38] Chr11:93844945 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3458C>A (p.Ala1153Asp)	single nucleotide variant	not specified [RCV004404144]	Chr11:94111872 [GRCh38] Chr11:93845038 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.443G>C (p.Gly148Ala)	single nucleotide variant	not specified [RCV004404145]	Chr11:94063535 [GRCh38] Chr11:93796701 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.44T>C (p.Phe15Ser)	single nucleotide variant	not specified [RCV004404146]	Chr11:94021412 [GRCh38] Chr11:93754578 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.713G>C (p.Ser238Thr)	single nucleotide variant	not specified [RCV004404147]	Chr11:94064415 [GRCh38] Chr11:93797581 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.852G>A (p.Met284Ile)	single nucleotide variant	not specified [RCV004404148]	Chr11:94067539 [GRCh38] Chr11:93800705 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1140G>T (p.Arg380Ser)	single nucleotide variant	not specified [RCV004404120]	Chr11:94070450 [GRCh38] Chr11:93803616 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1142G>A (p.Arg381His)	single nucleotide variant	not specified [RCV004404122]	Chr11:94070452 [GRCh38] Chr11:93803618 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.1222G>A (p.Ala408Thr)	single nucleotide variant	not specified [RCV004404123]	Chr11:94070532 [GRCh38] Chr11:93803698 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1271T>C (p.Ile424Thr)	single nucleotide variant	not specified [RCV004404126]	Chr11:94073063 [GRCh38] Chr11:93806229 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1484A>T (p.Asp495Val)	single nucleotide variant	not specified [RCV004404129]	Chr11:94073419 [GRCh38] Chr11:93806585 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1853C>T (p.Ser618Phe)	single nucleotide variant	not specified [RCV004404130]	Chr11:94082554 [GRCh38] Chr11:93815720 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.215G>A (p.Ser72Asn)	single nucleotide variant	not specified [RCV004404131]	Chr11:94045717 [GRCh38] Chr11:93778883 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2357T>C (p.Val786Ala)	single nucleotide variant	not specified [RCV004404134]	Chr11:94093563 [GRCh38] Chr11:93826729 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3226T>C (p.Ser1076Pro)	single nucleotide variant	not specified [RCV004404139]	Chr11:94111554 [GRCh38] Chr11:93844720 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.299T>G (p.Leu100Arg)	single nucleotide variant	not specified [RCV004630395]	Chr11:94045801 [GRCh38] Chr11:93778967 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1898C>G (p.Pro633Arg)	single nucleotide variant	not specified [RCV004630402]	Chr11:94086007 [GRCh38] Chr11:93819173 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2245A>C (p.Asn749His)	single nucleotide variant	not specified [RCV004630403]	Chr11:94088919 [GRCh38] Chr11:93822085 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3218T>C (p.Ile1073Thr)	single nucleotide variant	not specified [RCV004630404]	Chr11:94111546 [GRCh38] Chr11:93844712 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2762T>C (p.Val921Ala)	single nucleotide variant	not specified [RCV004626176]	Chr11:94104607 [GRCh38] Chr11:93837773 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.661G>T (p.Asp221Tyr)	single nucleotide variant	not specified [RCV004626177]	Chr11:94064363 [GRCh38] Chr11:93797529 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.242G>A (p.Arg81His)	single nucleotide variant	not specified [RCV004630393]	Chr11:94045744 [GRCh38] Chr11:93778910 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3169G>T (p.Ala1057Ser)	single nucleotide variant	not specified [RCV004630394]	Chr11:94111026 [GRCh38] Chr11:93844192 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2723G>T (p.Arg908Leu)	single nucleotide variant	not specified [RCV004630396]	Chr11:94104568 [GRCh38] Chr11:93837734 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1189G>A (p.Gly397Ser)	single nucleotide variant	not specified [RCV004630397]	Chr11:94070499 [GRCh38] Chr11:93803665 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3389C>T (p.Thr1130Met)	single nucleotide variant	not specified [RCV004630398]	Chr11:94111803 [GRCh38] Chr11:93844969 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2615C>A (p.Ser872Tyr)	single nucleotide variant	not specified [RCV004630399]	Chr11:94102953 [GRCh38] Chr11:93836119 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2018G>A (p.Arg673Gln)	single nucleotide variant	not specified [RCV004630400]	Chr11:94086127 [GRCh38] Chr11:93819293 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2838G>T (p.Lys946Asn)	single nucleotide variant	not specified [RCV004630401]	Chr11:94104683 [GRCh38] Chr11:93837849 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1967T>C (p.Met656Thr)	single nucleotide variant	not specified [RCV004925763]	Chr11:94086076 [GRCh38] Chr11:93819242 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:81041448-98151664)x1	copy number loss	not provided [RCV004819372]	Chr11:81041448..98151664 [GRCh37] Chr11:11q14.1-22.1	pathogenic
NM_001098672.2(HEPHL1):c.2839T>C (p.Tyr947His)	single nucleotide variant	not specified [RCV004925759]	Chr11:94104684 [GRCh38] Chr11:93837850 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.380A>C (p.His127Pro)	single nucleotide variant	not specified [RCV004925760]	Chr11:94045882 [GRCh38] Chr11:93779048 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.490T>G (p.Tyr164Asp)	single nucleotide variant	not specified [RCV004925761]	Chr11:94063582 [GRCh38] Chr11:93796748 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3241G>A (p.Gly1081Arg)	single nucleotide variant	not specified [RCV004925762]	Chr11:94111569 [GRCh38] Chr11:93844735 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2497A>G (p.Arg833Gly)	single nucleotide variant	not specified [RCV004925764]	Chr11:94101257 [GRCh38] Chr11:93834423 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3124C>T (p.Pro1042Ser)	single nucleotide variant	not specified [RCV004925765]	Chr11:94110981 [GRCh38] Chr11:93844147 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.935C>A (p.Thr312Asn)	single nucleotide variant	not specified [RCV004925766]	Chr11:94067622 [GRCh38] Chr11:93800788 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3077A>G (p.Asp1026Gly)	single nucleotide variant	not specified [RCV004925767]	Chr11:94110934 [GRCh38] Chr11:93844100 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.631A>G (p.Ile211Val)	single nucleotide variant	not specified [RCV004925768]	Chr11:94064333 [GRCh38] Chr11:93797499 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3094T>C (p.Phe1032Leu)	single nucleotide variant	not specified [RCV004925769]	Chr11:94110951 [GRCh38] Chr11:93844117 [GRCh37] Chr11:11q21	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	574
Count of miRNA genes:	456
Interacting mature miRNAs:	488
Transcripts:	ENST00000315765
Prediction methods:	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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597224440	GWAS1320514_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1320514 (human)		9e-36	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	11	94090069	94090070	Human
597255211	GWAS1351285_H	aspartate aminotransferase measurement QTL GWAS1351285 (human)		6e-12	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94064769	94064770	Human
597252476	GWAS1348550_H	aspartate aminotransferase measurement QTL GWAS1348550 (human)		4e-38	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94090069	94090070	Human
597254258	GWAS1350332_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1350332 (human)		2e-15	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	11	94064769	94064770	Human
597246743	GWAS1342817_H	serum alanine aminotransferase measurement QTL GWAS1342817 (human)		2e-23	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94064769	94064770	Human
597331781	GWAS1427855_H	colorectal cancer QTL GWAS1427855 (human)		0.0000007	colorectal cancer		11	94081720	94081721	Human
597251718	GWAS1347792_H	serum alanine aminotransferase measurement QTL GWAS1347792 (human)		5e-62	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94090069	94090070	Human

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
1044	2207	2534	1893	3862	1539	2022	5	498	1261	342	2129	5807	5188	10	2622	734	1609	1436	168


RefSeq Transcripts	NM_001098672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB231719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP002795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP003966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX641008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EG328157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000315765 ⟹ ENSP00000313699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	94,021,354 - 94,114,208 (+)	Ensembl

RefSeq Acc Id:

NM_001098672 ⟹ NP_001092142

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	94,021,354 - 94,114,208 (+)	NCBI
GRCh37	11	93,754,378 - 93,847,374 (+)	RGD
Build 36	11	93,394,026 - 93,487,022 (+)	NCBI Archive
Celera	11	91,042,195 - 91,135,169 (+)	RGD
HuRef	11	89,829,206 - 89,922,514 (+)	ENTREZGENE
CHM1_1	11	93,637,403 - 93,730,368 (+)	NCBI
T2T-CHM13v2.0	11	93,938,102 - 94,030,957 (+)	NCBI

Sequence:

show sequence

GAGTTACATCCACAAATGCCTCGGAAGCAGCCAGCTGGCTGCATCTTTCTCCTCACATTCCTGGGTCTGTCTGGGCTGGTTGGCACAGTTACCAGAACGTACTACATTGGGATTGTGGAAGAATACTG
GAACTATGTACCCCAAGGGAAGAATGTTATTACTGGGAAAAGTTTCACAGAAGACAAACTTGCAACCTTATTTCTCGAAAGAGGGCCCAACAGGATAGGCAGTATTTACAAAAAGGCTGTTTACAGAC
GCTTCACGGATGGAACCTACTCCATAGAGATCCCCAAACCTCCCTGGCTTGGATTCCTGGGCCCCATCTTGAGGGCCGAAGTGGGTGATGTGATTGTCATTCATTTAAAGAACTTTGCTTCTCGACCT
TACTCTCTGCATCCACATGGCGTTTTCTACAACAAAGATTCAGAAGGAGCCCTATACCCAGATGGAACATCTGGAAGGAACAAAAATGATGACATGGTTCCTCCTGGGAAAAACTACACCTACGTCTG
GCCGGTGAGAGAAGAATATGCACCTACTCCAGCCGATGCCAACTGCCTGACCTGGGTGTACCATTCGCACATCGACGCCCCAAAGGACATCTGCTCTGGGCTAATTGGGCCCCTGCTGGTCTGCAAGG
AAGGTATCCTGAATAGATATTCAGGGACACGGAATGATGTGGATCGAGAGTTTGTTATAATGTTTACTCTTGTGGATGAGAATCAAAGCTGGTACCTCAATGAAAATATCAAACATTTCTGCACCAAC
CCTGATTCAGTTGACAAGAAAGATGCTGTTTTCCAGAGGAGTAACAAAATGCATGCCCTCAATGGATACCTCTTCGGAAACTTCCCGGAGCCTGATATGTGTGTTGGAGAATCTGTGTCCTGGCACCT
ATTTGGAATGGGGAATGAAATAGACATCCATTCTATCTATTTCTATGGTAACACCTTCATCAGCAGAGGGCATCGGACTGATGTCGTCAACCTGTTCCCAGCCACCTTCCTTACAACAGAAATGATAG
CCGAGAATCCTGGGAAGTGGATGATAACCTGCCAGGTCAGCGACCACCTACAAGCTGGTATGCTGGGGCAATACAATGTTGATAACTGCAAAAGTGATATTTTCTACCCCAAGATGAAGGGTCAACAG
AGGCGCTACTTTATAGCAGCTGAAAAAATTCTTTGGGATTATGCTCCTCAAGGCTATAACAAATTCAGTGGTCTTCCTCTAAACGCCTCTGGCAGTGACTCTGATCTCTACTTCACACAAGGGGACAA
CAGAATAGGAGGAAAATACTGGAAGGTTCGGTATACTGAATTTGTTGATGCAACTTTTACTAAAAGAAAGAGACTCTCTGCTGAAGAAGCCCATCTTGGAATTCTTGGCCCAGTCATCAAGGCAGAGG
TGGGTGATACCCTGTTAGTGACCTTTGCCAACAAAGCCGACAAGGTCTATAGCATTTTACCCCATGGTGTGATCTATGACAAGGCATCTGATGCAGCCCCAAACCTAGATGGATTTGTGAAACCAGGG
GCGCATGTTAAACCAGGTGAAACCTTCACATACAAGTGGACAGTGCCTGAGAGCGTAAGCCCAACTGCTGGTGATCCTCCCTGTCTGACCTATCTTTACTTCTCAGCAGTTGATCCAATTAAGGACAC
CAGCTCTGGCCTGGTAGGGCCTTTGCTAGTCTGTAAAAAGGGCGTCCTCAATGCTGATGGGACACAGAAAGGAATAGACAAGGAGTTTTACCTACTGTTCACAGTCTTTGATGAGAATCTGAGCAGAT
ATTTTGATGAAAACATTCAGAAGTTTATCTGGCATCCCTTCAGCATTGACAAAGAAGATAAAGAGTTTGTGAAATCCAACCGAATGCATGCTGTTAACGGCTACATGTATGGCAACCAGCCAGGCTTA
AACATGTGTAAAAGGGATAGAGTTTCCTGGCATCTGATTGGATTGGGCACTGACACTGACATGCATGGAATTGTTTTTCAAGGGAACACCATCCACCTACGAGGGACTCACCGAGACTCCCTGGCCCT
GTTTCCCCACATGGCCACAACAGCATTCATGCAGCCAGACCATGCAGGTATTTTTAGGGTGTTTTGTGCCACCATGCCCCACCTCTCGAGAGGCATGGGTCAGATCTATGAGGTCAGCAGCTGTGACA
ACAGGGACCCTTCTGAGCAGCGGTACGGGATGATAAGAACTTTTTACATCGCCGCTGAAGAAGTAGAATGGGATTATGCCCCTAACAAAAACTGGGAGTTCGAAAAGCAGCACGTGGACGCAAGAGGG
GAAAGACATGGAGATATATTTATGAACCGCACTGAAAATTGGATTGGCTCTCAGTACAAGAAGGTGGTTTACAGGGAATATACGGATGGAGAATTTGTGGAGATCAAAGCCCGACCACCACGAGAGGA
GCACTTAGAACTCCTGGGCCCAATGATTCATGCTGAGGTGGGCAACACCGTCCTGATCATATTTAAGAACAAAGCCAGTAGGCCCTACTCCATCTCAGCCCAGGGTGTGGAGGAGATGGATAGTGGAA
AGCAATTCCAAGTGCCCATGACAAAACCAGGAGAAGTAAAAACTTATAGATGGAATATCCCTAAAAGATCCGGTCCAGGGCCTTCTGATCCCAATTGTATTCCATGGGTTTACTATTCAACAGTAAAC
TTTGTGAAGGATACGTATAGTGGTTTGATGGGTCCTCTGATTACATGCCGAAAAGGAGTCTTGAATGAAAAGGGAAGAAGAAGTGACGTTGATTATGAATTTGCTCTCTTGTTTTTGGTATTTAATGA
GAATGAATCCTGGTATCTGGATGACAATATTAAGAAGTATCTCAACAAAGATCCACGAGATTTTAAGCGCACTGATGATTTTGAGGAAAGCAACAGAATGCATGCCATTAATGGAAAGATTTTTGGGA
ATCTCCATGGCCTCATAATGAACGAAGATACAATGACAAACTGGTATTTGTTAGGGATAGGAAGTGAAGTGGACATACATACCATCCATTATCATGCTGAGAGCTTTCTTTTCAAAATAGATAAATCT
TACCGAGAAGATGTGTATGATCTCTTTCCTGGGACATTCCAAACCATTGAACTGTTTGCAGATCACCCAGGGACATGGCTGCTACACTGTCATGTGTCTGACCACATCCATGCTGGCATGGAGACAAC
CTACACGGTCCTTCGTAACATAGACAACAGGATTCCTTACTCCACCACATCTCCTGGAGTGGCATCTCACCCAGCCACGGTGCCATCTAACGAACGACCTGGCAAAGAGCAGCTCTATTTCTTTGGCA
AGAATCTGGGTCCAACAGGAGCCAAGGCAGCCTTGGTCATCCTTTTCATCATTGGACTCCTCCTTCTAATCACCACGGTGATTCTCTCCCTCAGACTCTGCTCTGCAATGAAGCAGACAGATTACCAG
CAAGTCCAGTCCTGTGCTCTCCCCACGGATGCTCTGTGAACCATCTGGTCTCCCTCAACAGGAAAGGGTGATGTCCCACAGCTGGCCAGATGGCAGCCAACAGGGAAACTGGACCAAGGCATCACTCA
CCAAGGAAGGTTGACACTGTATCCTGGATCAGCCTTCTGATCCTCTCAAACATCATCCAAAGCAATTTGCTTTTATTTATTTATTTTTAAATGGGCTGCGAATAATCCTCAGGTATAAAACACAGAAA
AAGGAGAATGGGCATGGCTGAGAATGTCAACTCTTAGTCTATTCTTTGGTTGGATTCACTGAATAGGAGACACTCTGAAAGATATCTTTATATTCCATCTTTTATAATTCTTGAACAGTGCTTTCTTA
GCTAACCACCAAAGTTTCTAGGTGAACAGCTTCTAGAAAAAGTTAGAGTGCCTCAGACATTTAACTGGAAGGGCACTACTTTTTCAACATTGTTGCATAACATGCATCCCTTGGTTCTGTGGAAAATA
TCTTTCTTAGGAGTTCTTGGCAATGTCTAAGTCAGTGTCTGCTGATAGAATTAGACCAAATAAATTTTTTGGAGGCTTTAACCAGCTCTCCTGGCCTTTTCCTCTTTGATATAAATAGCCTGTGCAGT
GCTTGTTTTAAAAAGCAAAGTTATACGTTTTTTAAAAAATTGCTGCTGTTTTTATTCAAACCTGTAGAAATACTTGAATGTTTACAACTCACTTCATGTTACATGTTTTTACAATATGTTTCTGTGGC
AATGTTTGTACTTTCAAAAATCAAGTAGAGAAATTGTATTTCTACTGCAGACTGTGGGAGGGCTGAAATCTGTAAAAGAACATGTTAGGCTCTCCCTTTATGAATCAGGGACTCCCTGAGAGTTTAGA
GCAAGCTTTCTATCAGGGAGGGAAGCTTTGCAGGAGGCAAGTCTGGGCTTGAATTTGGAGTCTGATTTTTCATTCAGTTAGAGGGAATCTTTACAAGTCCTCATCTTCTATGAAATTATAACATTCTC
ATTGTATGAGAAACATCAGGAGGAATTTATCAATGTAGGTGACTAGATAGGAGAAGGGACCTCTAAATATCCTAGATTCTATGGCTTTTAAAGACATACCTCTTCATGGAAGGAGAAAAAAGGAAAAG
GAAAGGTGAGAAAAAGATAATCTTGGTGGCAGATTCTCTTAAACCATTAAACCAGCTTTGAAAATTAATAAATAATTTCCAAGGTTCAAATGCAAAAAAATTATTGAACAACTAAACTCAACCCATTA
TGAGGCAATCTACACTGTCCATACCTATGCTTAGACAGTAGGTGTAAGATTGATAAAAGTAACATTGTTTATTACAAGACTGAGAAATTGCTTTTAGCTCTGGGCGAGATGCCCTGAGATTCCAATGC
CAATGCTAGATGAGTGATACTGGTATGCCTGCCTTAGCAGTGGGTAATTTGAATGTCAAAGTGAGTGACAAGGACCTAAGAAATATTCTGGTGGAGGGACCTTTCACACTGTCTCATCTTCATCTTCA
TGAGGGGAAATGGGTAATTGGATAGAAGCTATAGTCTTAACATAAAAGGGGATGCAAATGCTAATAGTTCTGTTCATAGTTTGCTTGAATGTCATATCAAACAGCATACACAAAAGATTTTGAATTTC
AATCTGCTAACCATTGACAATGTGATTTCATAGTACATGTTCTACAGTTTTCATACATGTGTAGGCTGCATAATTTCATAATTATGGTAAATGCCTTATTTATTACCCACCTTAGTAAGACAAGTTGT
TCAGTTGTTTTTTTTTCTTTTCAGTTTATTTTTTTAATGAAAACAAAACCACAAAGTAGTTTGATTGCATCATTTATCATTTTAATAAAGTGTCACATAAGGTGGCTATTTGCATGGTTATTTTCACT
TAAAATTATCTATCACTGAACTAGGGGAGGTGGTTAAAGTGGAATTAATTTTTAGATATTTAGGGGCTATGACTATGCCAATGACACTTGTTAGAGGAAATGAAACAAAATAGTGTATCTCCACAAAT
AATATGACTTCTCAAACATTGTTTCCTCAAACATAACTACACTCCTTGTTCTCAGCCTCACTCTTGAGAAAATCAACTCTGCCTTCACTTACACACATATTTCTTCCTATTACAATACACGTGTCCCT
GCTCCTAGCAGGACAGTCTCTTCATTTGACTTTGGGTCTCATTGCTTCTTGCTTTCTCAAGACTTCATTCCCTTGGGTATCCATTTTTCCTCCTGCATCTTTCTATGAAACCATCAGCAATGTCCGCC
ATTAAAAACAGAAAGCAATGTGCTGTCTTATTTAACTCTATAACCCCCT

hide sequence


Protein RefSeqs	NP_001092142	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAE46880	(Get FASTA)	NCBI Sequence Viewer
	CAE46009	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000313699
	ENSP00000313699.9
GenBank Protein	Q6MZM0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001092142 ⟸ NM_001098672
- Peptide Label:	precursor
- UniProtKB:	Q3C1W7 (UniProtKB/Swiss-Prot), Q6MZM0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLATLFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFASRPYSLHP HGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDREFVIMFTLVDENQSWYLNENIKHFCTNPDSVD KKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNEIDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKMKGQQRRYFI AAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQGDNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKVYSILPHGVIYDKASDAAPNLDGFVKPGAHVKP GETFTYKWTVPESVSPTAGDPPCLTYLYFSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQKFIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKR DRVSWHLIGLGTDTDMHGIVFQGNTIHLRGTHRDSLALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCDNRDPSEQRYGMIRTFYIAAEEVEWDYAPNKNWEFEKQHVDARGERHGD IFMNRTENWIGSQYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQGVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDT YSGLMGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDDFEESNRMHAINGKIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSYREDV YDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSPGVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSAMKQTDYQQVQSC ALPTDAL hide sequence

Ensembl Acc Id:

ENSP00000313699 ⟸ ENST00000315765

Protein Domains

Plastocyanin-like

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6MZM0-F1-model_v2	AlphaFold	Q6MZM0	1-1159	view protein structure

Database	Acc Id	Source(s)
COSMIC	HEPHL1	COSMIC
Ensembl Genes	ENSG00000181333	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000315765	ENTREZGENE
	ENST00000315765.10	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.40.420	UniProtKB/Swiss-Prot
GTEx	ENSG00000181333	GTEx
HGNC ID	HGNC:30477	ENTREZGENE
Human Proteome Map	HEPHL1	Human Proteome Map
InterPro	Cu-oxidase_2	UniProtKB/Swiss-Prot
	Cu-oxidase_3	UniProtKB/Swiss-Prot
	Cu-oxidase_fam	UniProtKB/Swiss-Prot
	Cu_oxidase_CS	UniProtKB/Swiss-Prot
	Cu_oxidase_Cu_BS	UniProtKB/Swiss-Prot
	Cupredoxin	UniProtKB/Swiss-Prot
KEGG Report	hsa:341208	UniProtKB/Swiss-Prot
NCBI Gene	341208	ENTREZGENE
OMIM	618455	OMIM
PANTHER	FERROXIDASE HEPHL1	UniProtKB/Swiss-Prot
	MULTI-COPPER OXIDASE	UniProtKB/Swiss-Prot
Pfam	Cu-oxidase_2	UniProtKB/Swiss-Prot
	Cu-oxidase_3	UniProtKB/Swiss-Prot
PharmGKB	PA134873144	PharmGKB
PROSITE	MULTICOPPER_OXIDASE1	UniProtKB/Swiss-Prot
	MULTICOPPER_OXIDASE2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF49503	UniProtKB/Swiss-Prot
UniProt	HPHL1_HUMAN	UniProtKB/Swiss-Prot
	Q3C1W7	ENTREZGENE
	Q6MZM0	ENTREZGENE
UniProt Secondary	Q3C1W7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-01	HEPHL1	hephaestin like 1		hephaestin-like 1	Symbol and/or name change	5135510	APPROVED

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 Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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