Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | primary ovarian insufficiency 9 | | ISO | HFM1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | primary ovarian insufficiency 9 | | ISO | HFM1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:14610273 | PMID:16141072 | PMID:16141073 | PMID:21677750 | PMID:21873635 | PMID:23555294 |
PMID:25892231 | PMID:27739607 | PMID:28051769 | PMID:31019073 | PMID:31146259 | PMID:32606310 | PMID:35526155 |
Hfm1 (Mus musculus - house mouse) |
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HFM1 (Homo sapiens - human) |
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Hfm1 (Rattus norvegicus - Norway rat) |
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Hfm1 (Chinchilla lanigera - long-tailed chinchilla) |
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HFM1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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HFM1 (Canis lupus familiaris - dog) |
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Hfm1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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HFM1 (Sus scrofa - pig) |
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LOC103224451 (Chlorocebus sabaeus - green monkey) |
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Hfm1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Hfm1
2811 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
12.MMHAP17FRD9.seq |
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RefSeq Acc Id: | ENSMUST00000112690 ⟹ ENSMUSP00000108310 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000117588 ⟹ ENSMUSP00000112590 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000134292 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000148495 ⟹ ENSMUSP00000122169 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000148686 ⟹ ENSMUSP00000120112 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000155171 ⟹ ENSMUSP00000118674 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000200249 ⟹ ENSMUSP00000142727 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001252516 ⟹ NP_001239445 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001412542 ⟹ NP_001399471 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001412561 ⟹ NP_001399490 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001412562 ⟹ NP_001399491 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_177873 ⟹ NP_808541 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006535015 ⟹ XP_006535078 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006535016 ⟹ XP_006535079 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011249487 ⟹ XP_011247789 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254590 ⟹ XP_030110450 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254591 ⟹ XP_030110451 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254593 ⟹ XP_030110453 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254594 ⟹ XP_030110454 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254595 ⟹ XP_030110455 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254596 ⟹ XP_030110456 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254597 ⟹ XP_030110457 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254598 ⟹ XP_030110458 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254599 ⟹ XP_030110459 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254600 ⟹ XP_030110460 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036165227 ⟹ XP_036021120 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036165228 ⟹ XP_036021121 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784708 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784709 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784710 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003955663 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003955664 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003955665 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003955666 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003955667 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_808541 ⟸ NM_177873 |
- Peptide Label: | isoform 1 |
- UniProtKB: | D3Z4R1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001239445 ⟸ NM_001252516 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8CA92 (UniProtKB/TrEMBL), D3YUB5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006535079 ⟸ XM_006535016 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006535078 ⟸ XM_006535015 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011247789 ⟸ XM_011249487 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_030110451 ⟸ XM_030254591 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_030110450 ⟸ XM_030254590 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_030110456 ⟸ XM_030254596 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_030110453 ⟸ XM_030254593 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_030110458 ⟸ XM_030254598 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_030110460 ⟸ XM_030254600 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_030110455 ⟸ XM_030254595 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_030110457 ⟸ XM_030254597 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_030110454 ⟸ XM_030254594 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_030110459 ⟸ XM_030254599 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | ENSMUSP00000108310 ⟸ ENSMUST00000112690 |
RefSeq Acc Id: | ENSMUSP00000122169 ⟸ ENSMUST00000148495 |
RefSeq Acc Id: | ENSMUSP00000120112 ⟸ ENSMUST00000148686 |
RefSeq Acc Id: | ENSMUSP00000112590 ⟸ ENSMUST00000117588 |
RefSeq Acc Id: | ENSMUSP00000118674 ⟸ ENSMUST00000155171 |
RefSeq Acc Id: | ENSMUSP00000142727 ⟸ ENSMUST00000200249 |
RefSeq Acc Id: | XP_036021121 ⟸ XM_036165228 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_036021120 ⟸ XM_036165227 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | NP_001399471 ⟸ NM_001412542 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001399491 ⟸ NM_001412562 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001399490 ⟸ NM_001412561 |
- Peptide Label: | isoform 4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3Z4R1-F1-model_v2 | AlphaFold | D3Z4R1 | 1-1434 | view protein structure |
RGD ID: | 6887402 | ||||||||
Promoter ID: | EPDNEW_M7152 | ||||||||
Type: | initiation region | ||||||||
Name: | Hfm1_1 | ||||||||
Description: | Mus musculus HFM1, ATP-dependent DNA helicase homolog , transcriptvariant 1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6837695 | ||||||||
Promoter ID: | MM_KWN:43216 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | ES_Cell | ||||||||
Transcripts: | ENSMUST00000117588, NM_177873, OTTMUST00000069726, OTTMUST00000069727 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:3036246 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000043410 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000112690 | ENTREZGENE |
ENSMUST00000112690.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000117588.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000148495.2 | UniProtKB/TrEMBL | |
ENSMUST00000148686.8 | UniProtKB/TrEMBL | |
ENSMUST00000155171.2 | UniProtKB/TrEMBL | |
ENSMUST00000200249.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot |
3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec63 N-terminal domain-like domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | DEAD/DEAH_box_helicase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Helicase_ATP-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Helicase_C | UniProtKB/Swiss-Prot | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec63-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot | |
WH_DNA-bd_sf | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:330149 | UniProtKB/Swiss-Prot |
MGD | MGI:3036246 | ENTREZGENE |
NCBI Gene | 330149 | ENTREZGENE |
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 | |
Sec63 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Hfm1 | PhenoGen |
PROSITE | HELICASE_ATP_BIND_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HELICASE_CTER | UniProtKB/Swiss-Prot | |
SMART | DEXDc | UniProtKB/Swiss-Prot |
HELICc | UniProtKB/Swiss-Prot | |
Sec63 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Sec63 N-terminal domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF46785 | UniProtKB/Swiss-Prot | |
SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0G2JED3_MOUSE | UniProtKB/TrEMBL |
B7ZWH2_MOUSE | UniProtKB/TrEMBL | |
B7ZWH3_MOUSE | UniProtKB/TrEMBL | |
B7ZWI0_MOUSE | UniProtKB/TrEMBL | |
D3YUB5 | ENTREZGENE | |
D3Z4R1 | ENTREZGENE | |
D6RJK3_MOUSE | UniProtKB/TrEMBL | |
F6XQ35_MOUSE | UniProtKB/TrEMBL | |
F7C082_MOUSE | UniProtKB/TrEMBL | |
HFM1_MOUSE | UniProtKB/Swiss-Prot | |
Q8CA92 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | D3YUB5 | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-12-29 | Hfm1 | HFM1, ATP-dependent DNA helicase homolog | HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |