HEPHL1 (hephaestin like 1) - Rat Genome Database

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Gene: HEPHL1 (hephaestin like 1) Homo sapiens
Analyze
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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,021,354 - 94,114,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,021,354 - 94,114,208 (+)EnsemblGRCh38hg38GRCh38
GRCh371193,754,520 - 93,847,374 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,394,026 - 93,487,022 (+)NCBINCBI36Build 36hg18NCBI36
Celera1191,042,195 - 91,135,169 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1189,829,206 - 89,922,514 (+)NCBIHuRef
CHM1_11193,637,403 - 93,730,368 (+)NCBICHM1_1
T2T-CHM13v2.01193,938,102 - 94,030,957 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# 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
Additional References at PubMed
PMID:20379614   PMID:20685892   PMID:21873635   PMID:23251661   PMID:26186194   PMID:28514442   PMID:30021884   PMID:31125343   PMID:32807901   PMID:33022573   PMID:33961781   PMID:34114013  


Genomics

Comparative Map Data
HEPHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,021,354 - 94,114,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,021,354 - 94,114,208 (+)EnsemblGRCh38hg38GRCh38
GRCh371193,754,520 - 93,847,374 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,394,026 - 93,487,022 (+)NCBINCBI36Build 36hg18NCBI36
Celera1191,042,195 - 91,135,169 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1189,829,206 - 89,922,514 (+)NCBIHuRef
CHM1_11193,637,403 - 93,730,368 (+)NCBICHM1_1
T2T-CHM13v2.01193,938,102 - 94,030,957 (+)NCBIT2T-CHM13v2.0
Hephl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,963,137 - 15,023,466 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl914,963,137 - 15,023,404 (-)EnsemblGRCm39 Ensembl
GRCm38915,051,841 - 15,112,170 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl915,051,841 - 15,112,108 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,856,285 - 14,916,552 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36914,804,011 - 14,862,497 (-)NCBIMGSCv36mm8
Celera912,332,719 - 12,393,081 (-)NCBICelera
Cytogenetic Map9A2NCBI
Hephl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8820,178,190 - 20,246,698 (-)NCBIGRCr8
mRatBN7.2811,896,768 - 11,965,282 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl811,898,532 - 11,965,267 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx815,880,896 - 15,949,552 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0814,178,657 - 14,247,294 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0812,160,022 - 12,228,389 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0813,614,800 - 13,680,870 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl813,614,800 - 13,680,870 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0813,555,911 - 13,622,279 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4811,858,152 - 11,925,452 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera813,367,554 - 13,434,143 (-)NCBICelera
Cytogenetic Map8q12NCBI
Hephl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955414461,212 - 551,323 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955414461,212 - 551,323 (-)NCBIChiLan1.0ChiLan1.0
HEPHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2994,875,671 - 94,969,244 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11195,967,401 - 96,060,643 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01189,035,265 - 89,127,508 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11192,521,421 - 92,613,455 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1192,521,421 - 92,613,455 (+)Ensemblpanpan1.1panPan2
HEPHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1216,720,472 - 6,813,946 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl216,716,562 - 6,814,486 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha216,729,881 - 6,823,331 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0216,900,421 - 6,994,141 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl216,901,997 - 6,994,165 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1216,681,088 - 6,774,590 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0216,750,370 - 6,844,426 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0216,800,696 - 6,894,096 (-)NCBIUU_Cfam_GSD_1.0
Hephl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494779,045,306 - 79,115,031 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936674778,160 - 846,119 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936674778,160 - 846,119 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEPHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl926,355,996 - 26,437,442 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1926,356,159 - 26,438,315 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2930,088,640 - 30,170,534 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEPHL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1185,268,791 - 85,348,816 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl185,269,726 - 85,346,988 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604340,462,062 - 40,538,402 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hephl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473538,687,298 - 38,755,523 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473538,687,298 - 38,757,256 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HEPHL1
108 total Variants

Clinical 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
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 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 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) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 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
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
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 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 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
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.1012G>A (p.Glu338Lys) single nucleotide variant not specified [RCV004282293] Chr11:94067699 [GRCh38]
Chr11:93800865 [GRCh37]
Chr11:11q21		 uncertain significance
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
GRCh37/hg19 11q21(chr11:93676223-94342737)x3 copy number gain not provided [RCV001260146] Chr11:93676223..94342737 [GRCh37]
Chr11:11q21		 uncertain significance
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 11q14.3-21(chr11:90906452-94437087) copy number gain not specified [RCV002052947] Chr11:90906452..94437087 [GRCh37]
Chr11:11q14.3-21		 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.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
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
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.3390G>A (p.Thr1130=) single nucleotide variant HEPHL1-related disorder [RCV003919818] 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.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.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.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.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.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.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
miRNA Target Status

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407194933GWAS843909_Haspartate aminotransferase measurement QTL GWAS843909 (human)6e-12aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)119406476994064770Human
407187924GWAS836900_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS836900 (human)2e-15aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)119406476994064770Human
407299428GWAS948404_Hcolorectal cancer QTL GWAS948404 (human)0.0000007colorectal cancer119408172094081721Human
407175446GWAS824422_Hserum alanine aminotransferase measurement QTL GWAS824422 (human)5e-62serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)119409006994090070Human
407165735GWAS814711_Haspartate aminotransferase measurement QTL GWAS814711 (human)4e-38aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)119409006994090070Human
407190816GWAS839792_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS839792 (human)9e-36aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)119409006994090070Human
407174987GWAS823963_Hserum alanine aminotransferase measurement QTL GWAS823963 (human)2e-23serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)119406476994064770Human


Expression

RNA-SEQ Expression

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

Sequence


Ensembl Acc Id: ENST00000315765   ⟹   ENSP00000313699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,021,354 - 94,114,208 (+)Ensembl
RefSeq Acc Id: NM_001098672   ⟹   NP_001092142
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,021,354 - 94,114,208 (+)NCBI
GRCh371193,754,378 - 93,847,374 (+)RGD
Build 361193,394,026 - 93,487,022 (+)NCBI Archive
Celera1191,042,195 - 91,135,169 (+)RGD
HuRef1189,829,206 - 89,922,514 (+)ENTREZGENE
CHM1_11193,637,403 - 93,730,368 (+)NCBI
T2T-CHM13v2.01193,938,102 - 94,030,957 (+)NCBI
Sequence:
Protein Sequences
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:
Ensembl Acc Id: ENSP00000313699   ⟸   ENST00000315765
Protein Domains
Plastocyanin-like

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


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30477 AgrOrtholog
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_CS UniProtKB/Swiss-Prot
  Cu_oxidase_Cu_BS UniProtKB/Swiss-Prot
  Cupredoxin UniProtKB/Swiss-Prot
  Neuropilin_MCO_CoagFactor UniProtKB/Swiss-Prot
KEGG Report hsa:341208 UniProtKB/Swiss-Prot
NCBI Gene 341208 ENTREZGENE
OMIM 618455 OMIM
PANTHER COAGULATION FACTOR VIII UniProtKB/Swiss-Prot
  F5/8 TYPE C DOMAIN-CONTAINING PROTEIN 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