HFM1 (helicase for meiosis 1) - Rat Genome Database

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Gene: HFM1 (helicase for meiosis 1) Homo sapiens
Analyze
Symbol: HFM1
Name: helicase for meiosis 1
RGD ID: 1606438
HGNC Page HGNC:20193
Description: Predicted to enable DNA helicase activity. Predicted to be involved in resolution of meiotic recombination intermediates. Predicted to be active in nucleus. Implicated in primary ovarian insufficiency 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ36760; FLJ39011; helicase; helicase-like protein HFM1; HFM1, ATP dependent DNA helicase homolog; HFM1, ATP-dependent DNA helicase homolog; MER3; MGC163397; POF9; probable ATP-dependent DNA helicase HFM1; RP11-539G11.1; SEC63 domain containing 1; SEC63 domain-containing protein 1; SEC63D1; Si-11; Si-11-6
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
GRCh38191,260,766 - 91,408,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,260,766 - 91,404,856 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,726,323 - 91,870,394 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,498,911 - 91,643,014 (-)NCBINCBI36Build 36hg18NCBI36
Celera189,974,186 - 90,118,312 (-)NCBICelera
Cytogenetic Map1p22.2NCBI
HuRef189,845,547 - 89,989,669 (-)NCBIHuRef
CHM1_1191,841,173 - 91,985,260 (-)NCBICHM1_1
T2T-CHM13v2.0191,105,413 - 91,252,636 (-)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
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17286053   PMID:20379614   PMID:20800603   PMID:21873635   PMID:23555294   PMID:24597873   PMID:26679638   PMID:28604741   PMID:29117863   PMID:31182584  
PMID:31279343   PMID:32513696   PMID:33536335   PMID:34133714   PMID:34429122   PMID:35486194   PMID:35526155   PMID:35881270  


Genomics

Comparative Map Data
HFM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,260,766 - 91,408,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,260,766 - 91,404,856 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,726,323 - 91,870,394 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,498,911 - 91,643,014 (-)NCBINCBI36Build 36hg18NCBI36
Celera189,974,186 - 90,118,312 (-)NCBICelera
Cytogenetic Map1p22.2NCBI
HuRef189,845,547 - 89,989,669 (-)NCBIHuRef
CHM1_1191,841,173 - 91,985,260 (-)NCBICHM1_1
T2T-CHM13v2.0191,105,413 - 91,252,636 (-)NCBIT2T-CHM13v2.0
Hfm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395106,988,059 - 107,074,427 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5106,988,058 - 107,074,187 (-)EnsemblGRCm39 Ensembl
GRCm385106,840,193 - 106,926,712 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5106,840,192 - 106,926,321 (-)EnsemblGRCm38mm10GRCm38
MGSCv375107,269,216 - 107,354,909 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365107,142,191 - 107,166,192 (-)NCBIMGSCv36mm8
Celera5103,958,350 - 104,043,607 (-)NCBICelera
Cytogenetic Map5E5NCBI
cM Map551.43NCBI
Hfm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8143,002,103 - 3,108,567 (+)NCBIGRCr8
mRatBN7.2142,857,251 - 2,943,766 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl142,856,599 - 2,939,238 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx142,738,710 - 2,817,281 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0144,040,205 - 4,118,784 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0142,740,225 - 2,818,798 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0143,879,172 - 3,961,139 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl143,882,398 - 3,960,909 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0143,876,228 - 3,958,179 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4143,477,851 - 3,556,999 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera142,875,579 - 2,955,062 (+)NCBICelera
Cytogenetic Map14p22NCBI
Hfm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554232,993,682 - 3,089,024 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554232,993,723 - 3,088,391 (+)NCBIChiLan1.0ChiLan1.0
HFM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21135,625,418 - 135,762,746 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11134,782,877 - 134,917,758 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0193,923,279 - 94,058,194 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1192,669,768 - 92,802,528 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl192,669,768 - 92,802,528 (-)Ensemblpanpan1.1panPan2
HFM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1657,403,006 - 57,541,616 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl657,403,471 - 57,534,615 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha660,107,979 - 60,257,033 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0657,785,587 - 57,935,671 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl657,819,298 - 57,918,158 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1657,461,604 - 57,610,980 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0657,436,714 - 57,576,808 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0657,900,647 - 58,050,087 (+)NCBIUU_Cfam_GSD_1.0
Hfm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058101,259,251 - 101,341,922 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365377,606,025 - 7,741,219 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HFM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4125,522,334 - 125,606,882 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14125,522,300 - 125,614,296 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24137,103,085 - 137,187,996 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103224451
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12041,837,289 - 41,957,302 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366619455,576 - 137,417 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hfm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247426,394,790 - 6,513,601 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HFM1
73 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001017975.6(HFM1):c.1686G>C (p.Arg562Ser) single nucleotide variant Premature ovarian failure 9 [RCV000114368] Chr1:91353299 [GRCh38]
Chr1:91818856 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.2651T>G (p.Ile884Ser) single nucleotide variant Premature ovarian failure 9 [RCV000114369] Chr1:91319322 [GRCh38]
Chr1:91784879 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.2206G>A (p.Gly736Ser) single nucleotide variant Premature ovarian failure 9 [RCV000114370] Chr1:91350738 [GRCh38]
Chr1:91816295 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.3929_3930delinsG (p.Pro1310fs) indel Premature ovarian failure 9 [RCV000114371] Chr1:91266061..91266062 [GRCh38]
Chr1:91731618..91731619 [GRCh37]
Chr1:1p22.2		 pathogenic
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
NM_001017975.6(HFM1):c.1905T>A (p.Tyr635Ter) single nucleotide variant Premature ovarian failure 9 [RCV001290508] Chr1:91352578 [GRCh38]
Chr1:91818135 [GRCh37]
Chr1:1p22.2		 pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_001017975.6(HFM1):c.3884-4A>T single nucleotide variant not specified [RCV000731284] Chr1:91266111 [GRCh38]
Chr1:91731668 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.2308G>A (p.Asp770Asn) single nucleotide variant HFM1-related condition [RCV003925464]|not specified [RCV000503810] Chr1:91343457 [GRCh38]
Chr1:91809014 [GRCh37]
Chr1:1p22.2		 benign|likely benign
NM_001017975.6(HFM1):c.2819C>T (p.Thr940Ile) single nucleotide variant not specified [RCV000500123] Chr1:91316470 [GRCh38]
Chr1:91782027 [GRCh37]
Chr1:1p22.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001017975.6(HFM1):c.2315G>A (p.Gly772Asp) single nucleotide variant not specified [RCV004323538] Chr1:91343450 [GRCh38]
Chr1:91809007 [GRCh37]
Chr1:1p22.2		 likely benign
GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3 copy number gain not provided [RCV000684599] Chr1:91668330..93539185 [GRCh37]
Chr1:1p22.2-22.1		 uncertain significance
GRCh37/hg19 1p22.2(chr1:91496962-91838471)x1 copy number loss not provided [RCV000684598] Chr1:91496962..91838471 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.4061del (p.Pro1354fs) deletion Premature ovarian failure 9 [RCV000680219] Chr1:91262506 [GRCh38]
Chr1:91728063 [GRCh37]
Chr1:1p22.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p22.2(chr1:91782031-91887372)x3 copy number gain not provided [RCV000749064] Chr1:91782031..91887372 [GRCh37]
Chr1:1p22.2		 benign
GRCh37/hg19 1p22.2-22.1(chr1:91690179-92082962)x3 copy number gain not provided [RCV000749063] Chr1:91690179..92082962 [GRCh37]
Chr1:1p22.2-22.1		 benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_001017975.6(HFM1):c.755-4dup duplication not provided [RCV000882363] Chr1:91385237..91385238 [GRCh38]
Chr1:91850794..91850795 [GRCh37]
Chr1:1p22.2		 benign
NM_001017975.6(HFM1):c.217A>G (p.Asn73Asp) single nucleotide variant not specified [RCV004299582] Chr1:91394370 [GRCh38]
Chr1:91859927 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.5T>C (p.Leu2Pro) single nucleotide variant not provided [RCV000897701] Chr1:91401078 [GRCh38]
Chr1:91866635 [GRCh37]
Chr1:1p22.2		 benign
NM_001017975.6(HFM1):c.2944G>A (p.Val982Met) single nucleotide variant not specified [RCV004297999] Chr1:91316139 [GRCh38]
Chr1:91781696 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2582+9G>A single nucleotide variant not provided [RCV000892010] Chr1:91322941 [GRCh38]
Chr1:91788498 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.1651G>T (p.Ala551Ser) single nucleotide variant not provided [RCV000886984] Chr1:91375392 [GRCh38]
Chr1:91840949 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.1294A>G (p.Met432Val) single nucleotide variant not provided [RCV000891367] Chr1:91378126 [GRCh38]
Chr1:91843683 [GRCh37]
Chr1:1p22.2		 benign
NM_001017975.6(HFM1):c.1978-2A>C single nucleotide variant Genetic non-acquired premature ovarian failure [RCV001661768] Chr1:91351645 [GRCh38]
Chr1:91817202 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.1880T>C (p.Val627Ala) single nucleotide variant Genetic non-acquired premature ovarian failure [RCV001661769] Chr1:91352603 [GRCh38]
Chr1:91818160 [GRCh37]
Chr1:1p22.2		 likely pathogenic
NM_001017975.6(HFM1):c.343T>C (p.Ser115Pro) single nucleotide variant not provided [RCV001692905] Chr1:91394244 [GRCh38]
Chr1:91859801 [GRCh37]
Chr1:1p22.2		 benign
NM_001017975.6(HFM1):c.2092G>T (p.Glu698Ter) single nucleotide variant Premature ovarian failure 9 [RCV001334672] Chr1:91350852 [GRCh38]
Chr1:91816409 [GRCh37]
Chr1:1p22.2		 pathogenic
GRCh37/hg19 1p22.2-22.1(chr1:91626271-92080577)x3 copy number gain not provided [RCV001259063] Chr1:91626271..92080577 [GRCh37]
Chr1:1p22.2-22.1		 uncertain significance
NM_001017975.6(HFM1):c.3588+1G>A single nucleotide variant Azoospermia [RCV001797566] Chr1:91276627 [GRCh38]
Chr1:91742184 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.2410G>T (p.Glu804Ter) single nucleotide variant Premature ovarian failure 9 [RCV001839424] Chr1:91324692 [GRCh38]
Chr1:91790249 [GRCh37]
Chr1:1p22.2		 likely pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1		 pathogenic
NM_001017975.6(HFM1):c.1355G>A (p.Arg452Gln) single nucleotide variant Spermatogenic failure 4 [RCV002261380] Chr1:91378065 [GRCh38]
Chr1:91843622 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.1472T>C (p.Leu491Pro) single nucleotide variant Spermatogenic failure 4 [RCV002261381] Chr1:91375651 [GRCh38]
Chr1:91841208 [GRCh37]
Chr1:1p22.2		 pathogenic
NM_001017975.6(HFM1):c.3122T>C (p.Val1041Ala) single nucleotide variant not specified [RCV004183217] Chr1:91315833 [GRCh38]
Chr1:91781390 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1037G>A (p.Arg346His) single nucleotide variant not specified [RCV004077240] Chr1:91379184 [GRCh38]
Chr1:91844741 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.617A>G (p.Tyr206Cys) single nucleotide variant not specified [RCV004194346] Chr1:91385712 [GRCh38]
Chr1:91851269 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.889A>G (p.Arg297Gly) single nucleotide variant not specified [RCV004129152] Chr1:91380221 [GRCh38]
Chr1:91845778 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2449A>G (p.Lys817Glu) single nucleotide variant not specified [RCV004193172] Chr1:91323178 [GRCh38]
Chr1:91788735 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.740C>T (p.Pro247Leu) single nucleotide variant not specified [RCV004131018] Chr1:91385589 [GRCh38]
Chr1:91851146 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.4114A>C (p.Asn1372His) single nucleotide variant not specified [RCV004237432] Chr1:91262365 [GRCh38]
Chr1:91727922 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3389A>C (p.Lys1130Thr) single nucleotide variant not specified [RCV004136354] Chr1:91313351 [GRCh38]
Chr1:91778908 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.4113A>C (p.Gln1371His) single nucleotide variant not specified [RCV004115854] Chr1:91262366 [GRCh38]
Chr1:91727923 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.515A>G (p.Asn172Ser) single nucleotide variant not specified [RCV004088745] Chr1:91385814 [GRCh38]
Chr1:91851371 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.757G>A (p.Val253Ile) single nucleotide variant not specified [RCV004152154] Chr1:91385232 [GRCh38]
Chr1:91850789 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2564G>A (p.Arg855Lys) single nucleotide variant not specified [RCV004205023] Chr1:91322968 [GRCh38]
Chr1:91788525 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3106G>A (p.Ala1036Thr) single nucleotide variant not specified [RCV004085221] Chr1:91315849 [GRCh38]
Chr1:91781406 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2078A>G (p.His693Arg) single nucleotide variant not specified [RCV004189330] Chr1:91350866 [GRCh38]
Chr1:91816423 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2630T>C (p.Leu877Ser) single nucleotide variant not specified [RCV004174925] Chr1:91319343 [GRCh38]
Chr1:91784900 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2298A>C (p.Leu766Phe) single nucleotide variant not specified [RCV004171633] Chr1:91343467 [GRCh38]
Chr1:91809024 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3630T>G (p.Phe1210Leu) single nucleotide variant not specified [RCV004124697] Chr1:91274768 [GRCh38]
Chr1:91740325 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2614A>G (p.Ile872Val) single nucleotide variant not specified [RCV004166506] Chr1:91319359 [GRCh38]
Chr1:91784916 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2159G>A (p.Arg720Gln) single nucleotide variant not specified [RCV004166696] Chr1:91350785 [GRCh38]
Chr1:91816342 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3164G>A (p.Gly1055Glu) single nucleotide variant not specified [RCV004072869] Chr1:91314037 [GRCh38]
Chr1:91779594 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2642C>A (p.Thr881Asn) single nucleotide variant not specified [RCV004211915] Chr1:91319331 [GRCh38]
Chr1:91784888 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3822T>A (p.Phe1274Leu) single nucleotide variant not specified [RCV004158795] Chr1:91267806 [GRCh38]
Chr1:91733363 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.4163A>G (p.Asn1388Ser) single nucleotide variant not specified [RCV004116445] Chr1:91262316 [GRCh38]
Chr1:91727873 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3292A>C (p.Lys1098Gln) single nucleotide variant not specified [RCV004230338] Chr1:91313448 [GRCh38]
Chr1:91779005 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2999A>G (p.Asp1000Gly) single nucleotide variant not specified [RCV004076015] Chr1:91315956 [GRCh38]
Chr1:91781513 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3044A>C (p.Glu1015Ala) single nucleotide variant not specified [RCV004222028] Chr1:91315911 [GRCh38]
Chr1:91781468 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2956C>T (p.Pro986Ser) single nucleotide variant not specified [RCV004127481] Chr1:91316127 [GRCh38]
Chr1:91781684 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1300A>G (p.Thr434Ala) single nucleotide variant not specified [RCV004174743] Chr1:91378120 [GRCh38]
Chr1:91843677 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3788A>C (p.Asn1263Thr) single nucleotide variant not specified [RCV004123668] Chr1:91267840 [GRCh38]
Chr1:91733397 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1436G>C (p.Cys479Ser) single nucleotide variant not specified [RCV004092801] Chr1:91375687 [GRCh38]
Chr1:91841244 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2654T>G (p.Phe885Cys) single nucleotide variant not specified [RCV004101303] Chr1:91319319 [GRCh38]
Chr1:91784876 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.4298G>A (p.Gly1433Asp) single nucleotide variant not specified [RCV004203358] Chr1:91261300 [GRCh38]
Chr1:91726857 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.553G>A (p.Asp185Asn) single nucleotide variant not specified [RCV004176413] Chr1:91385776 [GRCh38]
Chr1:91851333 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1772A>G (p.Glu591Gly) single nucleotide variant not specified [RCV004122037] Chr1:91353110 [GRCh38]
Chr1:91818667 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1262G>A (p.Arg421His) single nucleotide variant not specified [RCV004075471] Chr1:91378158 [GRCh38]
Chr1:91843715 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3296G>A (p.Arg1099Lys) single nucleotide variant not specified [RCV004216871] Chr1:91313444 [GRCh38]
Chr1:91779001 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3212A>G (p.Asp1071Gly) single nucleotide variant not specified [RCV004289847] Chr1:91313989 [GRCh38]
Chr1:91779546 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3470G>A (p.Cys1157Tyr) single nucleotide variant not provided [RCV003222616] Chr1:91276984 [GRCh38]
Chr1:91742541 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.3687A>G (p.Ile1229Met) single nucleotide variant not specified [RCV004259644] Chr1:91273797 [GRCh38]
Chr1:91739354 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.487C>T (p.Arg163Trp) single nucleotide variant not specified [RCV004270217] Chr1:91394100 [GRCh38]
Chr1:91859657 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3812G>T (p.Trp1271Leu) single nucleotide variant not specified [RCV004266883] Chr1:91267816 [GRCh38]
Chr1:91733373 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3368C>G (p.Ser1123Cys) single nucleotide variant not specified [RCV004272454] Chr1:91313372 [GRCh38]
Chr1:91778929 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1159-3_1159-2del deletion Premature ovarian failure 9 [RCV003146003] Chr1:91378482..91378483 [GRCh38]
Chr1:91844039..91844040 [GRCh37]
Chr1:1p22.2		 likely pathogenic
NM_001017975.6(HFM1):c.2966A>G (p.Glu989Gly) single nucleotide variant not specified [RCV004266527] Chr1:91316117 [GRCh38]
Chr1:91781674 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.304G>A (p.Asp102Asn) single nucleotide variant not specified [RCV004280071] Chr1:91394283 [GRCh38]
Chr1:91859840 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1562T>C (p.Ile521Thr) single nucleotide variant not specified [RCV004344838] Chr1:91375561 [GRCh38]
Chr1:91841118 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.679T>C (p.Ser227Pro) single nucleotide variant not specified [RCV004346723] Chr1:91385650 [GRCh38]
Chr1:91851207 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1703A>C (p.Tyr568Ser) single nucleotide variant not specified [RCV004350821] Chr1:91353282 [GRCh38]
Chr1:91818839 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.4202T>A (p.Ile1401Asn) single nucleotide variant not specified [RCV004362105] Chr1:91262277 [GRCh38]
Chr1:91727834 [GRCh37]
Chr1:1p22.2		 uncertain significance
GRCh37/hg19 1p22.2-22.1(chr1:91831195-92310841)x3 copy number gain not provided [RCV003484023] Chr1:91831195..92310841 [GRCh37]
Chr1:1p22.2-22.1		 uncertain significance
GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3 copy number gain not provided [RCV003484021] Chr1:88895486..91863052 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1477A>C (p.Lys493Gln) single nucleotide variant not provided [RCV003406604] Chr1:91375646 [GRCh38]
Chr1:91841203 [GRCh37]
Chr1:1p22.2		 benign
NM_001017975.6(HFM1):c.2T>C (p.Met1Thr) single nucleotide variant Premature ovarian failure 9 [RCV003388778] Chr1:91401081 [GRCh38]
Chr1:91866638 [GRCh37]
Chr1:1p22.2		 likely pathogenic
NM_001017975.6(HFM1):c.3396G>A (p.Thr1132=) single nucleotide variant not provided [RCV003406603] Chr1:91277058 [GRCh38]
Chr1:91742615 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.3140+7G>T single nucleotide variant HFM1-related condition [RCV003961800] Chr1:91315808 [GRCh38]
Chr1:91781365 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.1998A>C (p.Ala666=) single nucleotide variant HFM1-related condition [RCV003967250] Chr1:91351623 [GRCh38]
Chr1:91817180 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.3120A>C (p.Val1040=) single nucleotide variant HFM1-related condition [RCV003961909] Chr1:91315835 [GRCh38]
Chr1:91781392 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.494+10A>T single nucleotide variant HFM1-related condition [RCV003967270] Chr1:91394083 [GRCh38]
Chr1:91859640 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.831A>G (p.Glu277=) single nucleotide variant HFM1-related condition [RCV003971573] Chr1:91380954 [GRCh38]
Chr1:91846511 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.2286A>G (p.Ser762=) single nucleotide variant HFM1-related condition [RCV003924513] Chr1:91343479 [GRCh38]
Chr1:91809036 [GRCh37]
Chr1:1p22.2		 benign
NM_001017975.6(HFM1):c.2254+6A>G single nucleotide variant HFM1-related condition [RCV003981578] Chr1:91347423 [GRCh38]
Chr1:91812980 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.754+8C>T single nucleotide variant HFM1-related condition [RCV003947338] Chr1:91385567 [GRCh38]
Chr1:91851124 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001017975.6(HFM1):c.1059A>G (p.Lys353=) single nucleotide variant not provided [RCV003886041] Chr1:91379162 [GRCh38]
Chr1:91844719 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3611G>A (p.Ser1204Asn) single nucleotide variant not specified [RCV004396939] Chr1:91274787 [GRCh38]
Chr1:91740344 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2299A>G (p.Ile767Val) single nucleotide variant not specified [RCV004396934] Chr1:91343466 [GRCh38]
Chr1:91809023 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3640C>G (p.Pro1214Ala) single nucleotide variant not specified [RCV004396940] Chr1:91274758 [GRCh38]
Chr1:91740315 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.1841G>C (p.Ser614Thr) single nucleotide variant not specified [RCV004396933] Chr1:91352642 [GRCh38]
Chr1:91818199 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.296A>G (p.Tyr99Cys) single nucleotide variant not specified [RCV004396936] Chr1:91394291 [GRCh38]
Chr1:91859848 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.94T>G (p.Leu32Val) single nucleotide variant not specified [RCV004396944] Chr1:91396383 [GRCh38]
Chr1:91861940 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.488G>A (p.Arg163Gln) single nucleotide variant not specified [RCV004396943] Chr1:91394099 [GRCh38]
Chr1:91859656 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.2357G>C (p.Trp786Ser) single nucleotide variant not specified [RCV004396935] Chr1:91324745 [GRCh38]
Chr1:91790302 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3329C>A (p.Ser1110Tyr) single nucleotide variant not specified [RCV004396937] Chr1:91313411 [GRCh38]
Chr1:91778968 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3533C>G (p.Ser1178Cys) single nucleotide variant not specified [RCV004396938] Chr1:91276683 [GRCh38]
Chr1:91742240 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.97G>A (p.Asp33Asn) single nucleotide variant not specified [RCV004396946] Chr1:91396380 [GRCh38]
Chr1:91861937 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001017975.6(HFM1):c.3998C>T (p.Ser1333Leu) single nucleotide variant not specified [RCV004396941] Chr1:91262569 [GRCh38]
Chr1:91728126 [GRCh37]
Chr1:1p22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1047
Count of miRNA genes:593
Interacting mature miRNAs:643
Transcripts:ENST00000294696, ENST00000370424, ENST00000370425, ENST00000427444, ENST00000430465, ENST00000448819, ENST00000455133, ENST00000462405, ENST00000481900, ENST00000488023, ENST00000497520
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S3426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,564,394 - 61,564,670UniSTSGRCh37
GRCh37191,795,497 - 91,795,773UniSTSGRCh37
Build 36191,568,085 - 91,568,361RGDNCBI36
Celera190,043,380 - 90,043,656RGD
Celera1158,899,806 - 58,900,082UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map11q12UniSTS
HuRef1157,892,629 - 57,892,905UniSTS
HuRef189,914,785 - 89,915,061UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH17908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,564,393 - 61,564,555UniSTSGRCh37
GRCh37191,795,496 - 91,795,658UniSTSGRCh37
Build 36191,568,084 - 91,568,246RGDNCBI36
Celera1158,899,805 - 58,899,967UniSTS
Celera190,043,379 - 90,043,541RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map1p22.2UniSTS
HuRef1157,892,628 - 57,892,790UniSTS
HuRef189,914,784 - 89,914,946UniSTS
RH92497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,726,367 - 91,726,554UniSTSGRCh37
Build 36191,498,955 - 91,499,142RGDNCBI36
Celera189,974,230 - 89,974,417RGD
Cytogenetic Map1p22.2UniSTS
HuRef189,845,591 - 89,845,778UniSTS
GeneMap99-GB4 RH Map1255.79UniSTS
SHGC-111139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,840,489 - 91,840,760UniSTSGRCh37
Build 36191,613,077 - 91,613,348RGDNCBI36
Celera190,088,373 - 90,088,644RGD
Cytogenetic Map1p22.2UniSTS
HuRef189,959,728 - 89,959,999UniSTS
TNG Radiation Hybrid Map142482.0UniSTS
SHGC-112033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,866,604 - 91,866,886UniSTSGRCh37
Build 36191,639,192 - 91,639,474RGDNCBI36
Celera190,114,489 - 90,114,771RGD
Cytogenetic Map1p22.2UniSTS
HuRef189,985,846 - 89,986,128UniSTS
TNG Radiation Hybrid Map142463.0UniSTS
RH66123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,770,431 - 91,770,614UniSTSGRCh37
Build 36191,543,019 - 91,543,202RGDNCBI36
Celera190,018,317 - 90,018,500RGD
Cytogenetic Map1p22.2UniSTS
HuRef189,889,717 - 89,889,900UniSTS
GeneMap99-GB4 RH Map1255.9UniSTS
NCBI RH Map1625.1UniSTS
SGC35814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,564,193 - 61,564,396UniSTSGRCh37
GRCh37191,795,294 - 91,795,499UniSTSGRCh37
Build 36191,567,882 - 91,568,087RGDNCBI36
Celera190,043,177 - 90,043,382RGD
Celera1158,899,605 - 58,899,808UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map11q12UniSTS
HuRef189,914,582 - 89,914,787UniSTS
HuRef1157,892,428 - 57,892,631UniSTS
GeneMap99-GB4 RH Map11229.09UniSTS
Whitehead-RH Map11290.9UniSTS
NCBI RH Map11558.8UniSTS
RH11787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,564,447 - 61,564,629UniSTSGRCh37
GRCh37191,795,550 - 91,795,732UniSTSGRCh37
Build 36191,568,138 - 91,568,320RGDNCBI36
Celera190,043,433 - 90,043,615RGD
Celera1158,899,859 - 58,900,041UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map11q12UniSTS
HuRef1157,892,682 - 57,892,864UniSTS
HuRef189,914,838 - 89,915,020UniSTS
GeneMap99-GB4 RH Map11237.07UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 192 1 234 5 379 6
Low 1576 778 952 56 324 26 2285 1590 2883 158 790 1048 32 1 892 1432 2 1
Below cutoff 744 1817 462 456 788 325 2032 597 590 169 227 473 136 312 1345 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001017975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB044787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB044788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB058636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB058637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB074274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB204867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX323048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT932601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370425   ⟹   ENSP00000359454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,260,766 - 91,404,837 (-)Ensembl
RefSeq Acc Id: ENST00000427444   ⟹   ENSP00000388900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,385,614 - 91,404,840 (-)Ensembl
RefSeq Acc Id: ENST00000430465   ⟹   ENSP00000387661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,262,186 - 91,347,449 (-)Ensembl
RefSeq Acc Id: ENST00000448819   ⟹   ENSP00000397369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,380,233 - 91,404,856 (-)Ensembl
RefSeq Acc Id: ENST00000455133   ⟹   ENSP00000409827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,394,173 - 91,404,735 (-)Ensembl
RefSeq Acc Id: ENST00000462405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,260,766 - 91,352,637 (-)Ensembl
RefSeq Acc Id: ENST00000481900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,377,443 - 91,404,809 (-)Ensembl
RefSeq Acc Id: ENST00000488023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,377,759 - 91,404,808 (-)Ensembl
RefSeq Acc Id: ENST00000497520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,316,140 - 91,328,937 (-)Ensembl
RefSeq Acc Id: NM_001017975   ⟹   NP_001017975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,837 (-)NCBI
GRCh37191,726,323 - 91,870,426 (-)RGD
Build 36191,498,911 - 91,643,014 (-)NCBI Archive
Celera189,974,186 - 90,118,312 (-)RGD
HuRef189,845,547 - 89,989,669 (-)ENTREZGENE
CHM1_1191,841,173 - 91,985,260 (-)NCBI
T2T-CHM13v2.0191,105,413 - 91,249,466 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165455
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,735 (-)NCBI
T2T-CHM13v2.0191,105,413 - 91,249,364 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540849   ⟹   XP_011539151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540850   ⟹   XP_011539152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,541 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540851   ⟹   XP_011539153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540852   ⟹   XP_011539154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,408,007 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540855   ⟹   XP_011539157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,401,111 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540857   ⟹   XP_011539159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540859   ⟹   XP_011539161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,379,625 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000490   ⟹   XP_016855979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000491   ⟹   XP_016855980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000492   ⟹   XP_016855981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,401,030 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000493   ⟹   XP_016855982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,260,766 - 91,374,939 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000494   ⟹   XP_016855983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,316,101 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000495   ⟹   XP_016855984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,319,296 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000496   ⟹   XP_016855985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,316,458 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453708   ⟹   XP_024309476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,336,438 - 91,404,837 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447938   ⟹   XP_047303894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,262,182 - 91,404,837 (-)NCBI
RefSeq Acc Id: XM_047447940   ⟹   XP_047303896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,262,481 - 91,404,837 (-)NCBI
RefSeq Acc Id: XM_047447955   ⟹   XP_047303911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,315,899 - 91,404,837 (-)NCBI
RefSeq Acc Id: XM_047447956   ⟹   XP_047303912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,315,899 - 91,404,837 (-)NCBI
RefSeq Acc Id: XM_054334763   ⟹   XP_054190738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,249,365 (-)NCBI
RefSeq Acc Id: XM_054334764   ⟹   XP_054190739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,249,167 (-)NCBI
RefSeq Acc Id: XM_054334765   ⟹   XP_054190740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,249,432 (-)NCBI
RefSeq Acc Id: XM_054334766   ⟹   XP_054190741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,252,636 (-)NCBI
RefSeq Acc Id: XM_054334767   ⟹   XP_054190742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334768   ⟹   XP_054190743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334769   ⟹   XP_054190744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,245,738 (-)NCBI
RefSeq Acc Id: XM_054334770   ⟹   XP_054190745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,106,833 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334771   ⟹   XP_054190746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,107,128 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334772   ⟹   XP_054190747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334773   ⟹   XP_054190748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,245,657 (-)NCBI
RefSeq Acc Id: XM_054334774   ⟹   XP_054190749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,224,258 (-)NCBI
RefSeq Acc Id: XM_054334775   ⟹   XP_054190750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,160,524 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334776   ⟹   XP_054190751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,160,524 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334777   ⟹   XP_054190752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,105,413 - 91,219,567 (-)NCBI
RefSeq Acc Id: XM_054334778   ⟹   XP_054190753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,160,734 - 91,249,466 (-)NCBI
RefSeq Acc Id: XM_054334779   ⟹   XP_054190754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,163,921 - 91,249,365 (-)NCBI
RefSeq Acc Id: XM_054334780   ⟹   XP_054190755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,161,083 - 91,249,365 (-)NCBI
RefSeq Acc Id: XM_054334781   ⟹   XP_054190756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,181,062 - 91,249,365 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001017975 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539151 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539152 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539153 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539154 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539157 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539159 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539161 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855979 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855980 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855981 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855982 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855983 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855984 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855985 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309476 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303894 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303896 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303911 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303912 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190739 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190740 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190741 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190742 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190743 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190744 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190745 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190746 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190747 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190748 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190749 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190751 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190752 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190753 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190755 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190756 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A2PYH4 (Get FASTA)   NCBI Sequence Viewer  
  AAI44173 (Get FASTA)   NCBI Sequence Viewer  
  AAI44199 (Get FASTA)   NCBI Sequence Viewer  
  BAC04281 (Get FASTA)   NCBI Sequence Viewer  
  BAF45466 (Get FASTA)   NCBI Sequence Viewer  
  BAG53262 (Get FASTA)   NCBI Sequence Viewer  
  BAG57893 (Get FASTA)   NCBI Sequence Viewer  
  BAG63837 (Get FASTA)   NCBI Sequence Viewer  
  BAI63262 (Get FASTA)   NCBI Sequence Viewer  
  BAI63263 (Get FASTA)   NCBI Sequence Viewer  
  BAI63264 (Get FASTA)   NCBI Sequence Viewer  
  BAI63265 (Get FASTA)   NCBI Sequence Viewer  
  EAW73116 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359454
  ENSP00000359454.3
  ENSP00000387661.1
  ENSP00000388900.1
  ENSP00000397369.1
  ENSP00000409827.1
Reference Protein Sequences
RefSeq Acc Id: NP_001017975   ⟸   NM_001017975
- UniProtKB: B1B0B6 (UniProtKB/Swiss-Prot),   A2PYH4 (UniProtKB/Swiss-Prot),   Q8N9Q0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539154   ⟸   XM_011540852
- Peptide Label: isoform X1
- UniProtKB: B1B0B6 (UniProtKB/Swiss-Prot),   Q8N9Q0 (UniProtKB/Swiss-Prot),   A2PYH4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539159   ⟸   XM_011540857
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011539153   ⟸   XM_011540851
- Peptide Label: isoform X1
- UniProtKB: B1B0B6 (UniProtKB/Swiss-Prot),   Q8N9Q0 (UniProtKB/Swiss-Prot),   A2PYH4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539151   ⟸   XM_011540849
- Peptide Label: isoform X1
- UniProtKB: B1B0B6 (UniProtKB/Swiss-Prot),   Q8N9Q0 (UniProtKB/Swiss-Prot),   A2PYH4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539152   ⟸   XM_011540850
- Peptide Label: isoform X1
- UniProtKB: B1B0B6 (UniProtKB/Swiss-Prot),   Q8N9Q0 (UniProtKB/Swiss-Prot),   A2PYH4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539157   ⟸   XM_011540855
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011539161   ⟸   XM_011540859
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016855979   ⟸   XM_017000490
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016855980   ⟸   XM_017000491
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016855981   ⟸   XM_017000492
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016855982   ⟸   XM_017000493
- Peptide Label: isoform X12
- UniProtKB: B7ZM00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855983   ⟸   XM_017000494
- Peptide Label: isoform X13
- UniProtKB: D2KTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855985   ⟸   XM_017000496
- Peptide Label: isoform X14
- UniProtKB: D2KTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855984   ⟸   XM_017000495
- Peptide Label: isoform X14
- UniProtKB: D2KTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309476   ⟸   XM_024453708
- Peptide Label: isoform X15
- UniProtKB: D2KTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000359454   ⟸   ENST00000370425
RefSeq Acc Id: ENSP00000388900   ⟸   ENST00000427444
RefSeq Acc Id: ENSP00000409827   ⟸   ENST00000455133
RefSeq Acc Id: ENSP00000387661   ⟸   ENST00000430465
RefSeq Acc Id: ENSP00000397369   ⟸   ENST00000448819
RefSeq Acc Id: XP_047303894   ⟸   XM_047447938
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047303896   ⟸   XM_047447940
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047303912   ⟸   XM_047447956
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047303911   ⟸   XM_047447955
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054190741   ⟸   XM_054334766
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190747   ⟸   XM_054334772
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054190742   ⟸   XM_054334767
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190743   ⟸   XM_054334768
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190740   ⟸   XM_054334765
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190738   ⟸   XM_054334763
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190739   ⟸   XM_054334764
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190744   ⟸   XM_054334769
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190748   ⟸   XM_054334773
- Peptide Label: isoform X8
- UniProtKB: B4DYS5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190749   ⟸   XM_054334774
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054190752   ⟸   XM_054334777
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054190745   ⟸   XM_054334770
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190746   ⟸   XM_054334771
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054190751   ⟸   XM_054334776
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054190750   ⟸   XM_054334775
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054190753   ⟸   XM_054334778
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054190755   ⟸   XM_054334780
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054190754   ⟸   XM_054334779
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054190756   ⟸   XM_054334781
- Peptide Label: isoform X15
Protein Domains
Helicase ATP-binding   Helicase C-terminal   SEC63

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A2PYH4-F1-model_v2 AlphaFold A2PYH4 1-1435 view protein structure

Promoters
RGD ID:6856186
Promoter ID:EPDNEW_H1258
Type:initiation region
Name:HFM1_2
Description:HFM1, ATP dependent DNA helicase homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1259  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,404,671 - 91,404,731EPDNEW
RGD ID:6856188
Promoter ID:EPDNEW_H1259
Type:initiation region
Name:HFM1_1
Description:HFM1, ATP dependent DNA helicase homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1258  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,404,821 - 91,404,881EPDNEW
RGD ID:6785721
Promoter ID:HG_KWN:3604
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000294696,   ENST00000370421,   ENST00000370424,   NM_001017975,   OTTHUMT00000027921,   OTTHUMT00000316719,   OTTHUMT00000316721,   OTTHUMT00000316722,   OTTHUMT00000316723
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,642,496 - 91,642,996 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20193 AgrOrtholog
COSMIC HFM1 COSMIC
Ensembl Genes ENSG00000162669 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370425 ENTREZGENE
  ENST00000370425.8 UniProtKB/Swiss-Prot
  ENST00000427444.1 UniProtKB/TrEMBL
  ENST00000430465.1 UniProtKB/TrEMBL
  ENST00000448819.5 UniProtKB/TrEMBL
  ENST00000455133.1 UniProtKB/TrEMBL
  ENST00000462405 ENTREZGENE
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63 N-terminal domain-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162669 GTEx
HGNC ID HGNC:20193 ENTREZGENE
Human Proteome Map HFM1 Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:164045 UniProtKB/Swiss-Prot
NCBI Gene 164045 ENTREZGENE
OMIM 615684 OMIM
PANTHER HFM1, ATP DEPENDENT DNA HELICASE HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEC63 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671690 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Sec63 N-terminal domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2PYH4 ENTREZGENE
  B1B0B6 ENTREZGENE
  B4DYS5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZM00 ENTREZGENE, UniProtKB/TrEMBL
  B7ZM16_HUMAN UniProtKB/TrEMBL
  C9JA44_HUMAN UniProtKB/TrEMBL
  C9JQ07_HUMAN UniProtKB/TrEMBL
  C9JQP7_HUMAN UniProtKB/TrEMBL
  D2KTB5 ENTREZGENE, UniProtKB/TrEMBL
  H0Y3X7_HUMAN UniProtKB/TrEMBL
  HFM1_HUMAN UniProtKB/Swiss-Prot
  Q8N9Q0 ENTREZGENE
UniProt Secondary B1B0B6 UniProtKB/Swiss-Prot
  Q8N9Q0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 HFM1  helicase for meiosis 1    HFM1, ATP dependent DNA helicase homolog  Symbol and/or name change 5135510 APPROVED
2016-06-21 HFM1  HFM1, ATP dependent DNA helicase homolog    HFM1, ATP-dependent DNA helicase homolog  Symbol and/or name change 5135510 APPROVED
2015-07-07 HFM1  HFM1, ATP-dependent DNA helicase homolog    HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED