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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| intellectual disability | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curatedReferences - uncurated| PubMed | 10982862 12477932 14702039 15057824 15489334 16189514 16344560 16964243 21044950 21516116 21873635 22658674 22863883 22939629 24778252 25416956 26186194 26308914 26344197 27499296 28514442 28515276 28784718 29568061 |
Comparative Map Data| TRMT1 (Homo sapiens - human) |
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| Trmt1 (Mus musculus - house mouse) |
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| Trmt1 (Rattus norvegicus - Norway rat) |
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| Trmt1 (Chinchilla lanigera - long-tailed chinchilla) |
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| TRMT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TRMT1 (Canis lupus familiaris - dog) |
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| Trmt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TRMT1 (Sus scrofa - pig) |
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Position Markers| RH80493 |
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| D19S694E |
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| WI-19708 |
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| RH47064 |
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miRNA Target Status
| 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. |
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Nucleotide Sequences| RefSeq Transcripts | NG_054900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001136035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001142554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001351760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001351761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001351762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_017722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_002958328 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_002958329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC005546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF075055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF196479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK000251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK292377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295245 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC002492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC018302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC034242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC040126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BF798026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BQ212049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA202329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC313999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC344734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC364503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC365548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC373552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001136035 ⟹ NP_001129507 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GACTGGCCAACCACTATCATGTGATTCGCCCACCCACTGTGCCAACATGGCGGCGCCCAGGTCChide sequence |
| RefSeq Acc Id: | NM_001142554 ⟹ NP_001136026 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGCAGGTGAGGACGGGCTAGGCAGCGCGGGGAGGGATTCGGACTCGGGGCGGGCCTGCACGAGGhide sequence |
| RefSeq Acc Id: | NM_001351760 ⟹ NP_001338689 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACTGGCCAACCACTATCATGTGATTCGCCCACCCACTGTGCCAACATGGCGGCGCCCAGGTCChide sequence |
| RefSeq Acc Id: | NM_001351761 ⟹ NP_001338690 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACTGGCCAACCACTATCATGTGATTCGCCCACCCACTGTGCCAACATGGCGGCGCCCAGGTCChide sequence |
| RefSeq Acc Id: | NM_001351762 ⟹ NP_001338691 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACTGGCCAACCACTATCATGTGATTCGCCCACCCACTGTGCCAACATGGCGGCGCCCAGGTCChide sequence |
| RefSeq Acc Id: | NM_017722 ⟹ NP_060192 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGCAGGTGAGGACGGGCTAGGCAGCGCGGGGAGGGATTCGGACTCGGGGCGGGCCTGCACGAGGhide sequence |
| RefSeq Acc Id: | XM_024451587 ⟹ XP_024307355 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTThide sequence |
| RefSeq Acc Id: | XM_024451588 ⟹ XP_024307356 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AAAAGAAAGAAAGAAAGAAAAGGAGGCACAGAGAAATGAAGAAAGCTGGTCAAGATCATCACAChide sequence |
| RefSeq Acc Id: | XM_024451589 ⟹ XP_024307357 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTThide sequence |
| RefSeq Acc Id: | XM_024451590 ⟹ XP_024307358 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTThide sequence |
| RefSeq Acc Id: | XM_024451591 ⟹ XP_024307359 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTThide sequence |
| RefSeq Acc Id: | XM_024451592 ⟹ XP_024307360 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AAAAGAAAGAAAGAAAGAAAAGGAGGCACAGAGAAATGAAGAAAGCTGGTCAAGATCATCACAChide sequence |
| RefSeq Acc Id: | XM_024451593 ⟹ XP_024307361 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTThide sequence |
| RefSeq Acc Id: | XR_002958328 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
ACTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTThide sequence |
| RefSeq Acc Id: | XR_002958329 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
CTGTGCCAACATGGCGGCGCCCAGGTCCTAATTCGGGAAACGTGCACCTTGACTAATTCGGTTThide sequence |
Protein Sequences| Protein RefSeqs | NP_001129507 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001136026 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001338689 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001338690 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001338691 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_060192 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307355 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307356 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307357 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307358 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307359 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307360 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307361 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC33150 | (Get FASTA) | NCBI Sequence Viewer |
| AAG28495 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH02492 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH18302 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH40126 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA91031 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF85066 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG58237 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG65415 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84345 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84346 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84347 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84348 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84349 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84350 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84351 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9NXH9 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001129507 ⟸ NM_001136035 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9NXH9 (UniProtKB/Swiss-Prot), A0A024R7I5 (UniProtKB/TrEMBL) |
| - Sequence: |
MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIhide sequence |
| RefSeq Acc Id: | NP_001136026 ⟸ NM_001142554 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9NXH9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIhide sequence |
| RefSeq Acc Id: | NP_060192 ⟸ NM_017722 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9NXH9 (UniProtKB/Swiss-Prot), A0A024R7I5 (UniProtKB/TrEMBL) |
| - Sequence: |
MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIhide sequence |
| RefSeq Acc Id: | NP_001338690 ⟸ NM_001351761 |
| - Peptide Label: | isoform 3 |
| - Sequence: |
MENGTGPYGEERPREVQETTVTEGAAKIAFPSANEVFYNPVQEFNRDLTCAVITEFARIQLGAKhide sequence |
| RefSeq Acc Id: | NP_001338689 ⟸ NM_001351760 |
| - Peptide Label: | isoform 2 |
| - Sequence: |
MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIhide sequence |
| RefSeq Acc Id: | NP_001338691 ⟸ NM_001351762 |
| - Peptide Label: | isoform 4 |
| - Sequence: |
MAVLAGNSGETCYSKYGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFhide sequence |
| RefSeq Acc Id: | XP_024307360 ⟸ XM_024451592 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MAVLAGNSGETCYSKYGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFhide sequence |
| RefSeq Acc Id: | XP_024307356 ⟸ XM_024451588 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGhide sequence |
| RefSeq Acc Id: | XP_024307361 ⟸ XM_024451593 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MAVLAGNSGETCYSKYGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFhide sequence |
| RefSeq Acc Id: | XP_024307358 ⟸ XM_024451590 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGhide sequence |
| RefSeq Acc Id: | XP_024307357 ⟸ XM_024451589 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGhide sequence |
| RefSeq Acc Id: | XP_024307359 ⟸ XM_024451591 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MAVLAGNSGETCYSKYGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFhide sequence |
| RefSeq Acc Id: | XP_024307355 ⟸ XM_024451587 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGhide sequence |
Promoters| RGD ID: | 6796150 | |||||||||
| Promoter ID: | HG_KWN:29053 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000221504, NM_001136035, NM_001142554, NM_017722 | |||||||||
| Position: |
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| RGD ID: | 6852036 | |||||||||
| Promoter ID: | EP73824 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HS_FLJ20244 | |||||||||
| Description: | Hypothetical protein FLJ20244. | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | |||||||||
| Position: |
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| RGD ID: | 7238779 | |||||||||
| Promoter ID: | EPDNEW_H25134 | |||||||||
| Type: | initiation region | |||||||||
| Name: | TRMT1_1 | |||||||||
| Description: | tRNA methyltransferase 1 | |||||||||
| 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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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NC_000019.9:g.(?_13106632)_(13428155_?)del | deletion | Marshall-Smith syndrome [RCV000543828] | Chr19:13106632..13428155 [GRCh37] Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|See cases [RCV000052908] | Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13 |
likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|See cases [RCV000052909] | Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|See cases [RCV000052910] | Chr19:12132052..14751798 [GRCh38] Chr19:12242867..14862610 [GRCh37] Chr19:12103867..14723610 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|See cases [RCV000052911] | Chr19:12850595..13290954 [GRCh38] Chr19:12961409..13401768 [GRCh37] Chr19:12822409..13262768 [NCBI36] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|See cases [RCV000054144] | Chr19:12813597..13119698 [GRCh38] Chr19:12924411..13230512 [GRCh37] Chr19:12785411..13091512 [NCBI36] Chr19:19p13.13 |
uncertain significance |
| GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] | Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 | copy number loss | Episodic vomiting [RCV000053945]|See cases [RCV000053945] | Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
| NM_001136035.3(TRMT1):c.967C>T (p.Arg323Cys) | single nucleotide variant | not provided [RCV000171278] | Chr19:13110210 [GRCh38] Chr19:13221024 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 | copy number loss | See cases [RCV000135352] | Chr19:13034666..13283686 [GRCh38] Chr19:13145480..13394500 [GRCh37] Chr19:13006480..13255500 [NCBI36] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3 | copy number gain | See cases [RCV000136559] | Chr19:12978943..13236134 [GRCh38] Chr19:13089757..13346948 [GRCh37] Chr19:12950757..13207948 [NCBI36] Chr19:19p13.13 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 | copy number loss | See cases [RCV000135937] | Chr19:12580427..14742673 [GRCh38] Chr19:12691241..14853485 [GRCh37] Chr19:12552241..14714485 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic|likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 | copy number loss | See cases [RCV000136909] | Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1 | copy number loss | See cases [RCV000138197] | Chr19:12974394..13408586 [GRCh38] Chr19:13085208..13519400 [GRCh37] Chr19:12946208..13380400 [NCBI36] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 | copy number loss | See cases [RCV000141568] | Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3 | copy number gain | See cases [RCV000449427] | Chr19:13180583..13319148 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 | copy number loss | See cases [RCV000449161] | Chr19:12204632..13497073 [GRCh37] Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) | copy number gain | See cases [RCV000446985] | Chr19:9678768..14853426 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 | copy number loss | See cases [RCV000511130] | Chr19:12574343..14726197 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 | copy number gain | See cases [RCV000511013] | Chr19:11608072..14543046 [GRCh37] Chr19:19p13.2-13.12 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| NM_001136035.3(TRMT1):c.1107-2A>G | single nucleotide variant | not provided [RCV000513125] | Chr19:13109840 [GRCh38] Chr19:13220654 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_001136035.3(TRMT1):c.389_390del (p.Lys130fs) | deletion | not provided [RCV000513415] | Chr19:13115689..13115690 [GRCh38] Chr19:13226503..13226504 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_001136035.3(TRMT1):c.657_688del (p.Gln219fs) | deletion | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 [RCV000754765] | Chr19:13112965..13112996 [GRCh38] Chr19:13223779..13223810 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_001136035.3(TRMT1):c.1506+1G>T | single nucleotide variant | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 [RCV000754766] | Chr19:13107750 [GRCh38] Chr19:13218564 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_001136035.3(TRMT1):c.1332_1333del (p.Tyr445fs) | deletion | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 [RCV000754767] | Chr19:13109445..13109446 [GRCh38] Chr19:13220259..13220260 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 | copy number loss | not provided [RCV000846538] | Chr19:12354642..13424014 [GRCh37] Chr19:19p13.2 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:25980 | AgrOrtholog |
| COSMIC | TRMT1 | COSMIC |
| Ensembl Genes | ENSG00000104907 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000221504 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000350352 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000416149 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000465370 | UniProtKB/TrEMBL | |
| ENSP00000466716 | UniProtKB/TrEMBL | |
| ENSP00000466966 | UniProtKB/TrEMBL | |
| ENSP00000466967 | UniProtKB/Swiss-Prot | |
| ENSP00000467938 | UniProtKB/TrEMBL | |
| ENSP00000467984 | UniProtKB/TrEMBL | |
| ENSP00000468031 | UniProtKB/TrEMBL | |
| ENSP00000468377 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000221504 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000357720 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000437766 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000586224 | UniProtKB/TrEMBL | |
| ENST00000587487 | UniProtKB/TrEMBL | |
| ENST00000587633 | UniProtKB/TrEMBL | |
| ENST00000588229 | UniProtKB/TrEMBL | |
| ENST00000588746 | UniProtKB/TrEMBL | |
| ENST00000591717 | UniProtKB/TrEMBL | |
| ENST00000592062 | UniProtKB/Swiss-Prot | |
| ENST00000592814 | UniProtKB/TrEMBL | |
| ENST00000593157 | ENTREZGENE | |
| Gene3D-CATH | 3.30.56.70 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000104907 | GTEx |
| HGNC ID | HGNC:25980 | ENTREZGENE |
| Human Proteome Map | TRMT1 | Human Proteome Map |
| InterPro | SAM-dependent_MTases | UniProtKB/Swiss-Prot |
| Trm1 | UniProtKB/Swiss-Prot | |
| tRNA_met_Trm1_C | UniProtKB/Swiss-Prot | |
| Znf_CCCH | UniProtKB/Swiss-Prot | |
| Znf_CCCH_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:55621 | UniProtKB/Swiss-Prot |
| NCBI Gene | 55621 | ENTREZGENE |
| OMIM | 611669 | OMIM |
| 618302 | OMIM | |
| PANTHER | PTHR10631 | UniProtKB/Swiss-Prot |
| Pfam | TRM | UniProtKB/Swiss-Prot |
| zf-CCCH | UniProtKB/Swiss-Prot | |
| PharmGKB | PA134867808 | PharmGKB |
| PROSITE | SAM_MT_TRM1 | UniProtKB/Swiss-Prot |
| ZF_C3H1 | UniProtKB/Swiss-Prot | |
| SMART | ZnF_C3H1 | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF53335 | UniProtKB/Swiss-Prot |
| SSF90229 | UniProtKB/Swiss-Prot | |
| TIGRFAMs | TRM1 | UniProtKB/Swiss-Prot |
| UniGene | Hs.515169 | ENTREZGENE |
| UniProt | A0A024R7G3_HUMAN | UniProtKB/TrEMBL |
| A0A024R7I5 | ENTREZGENE, UniProtKB/TrEMBL | |
| K7EJX9_HUMAN | UniProtKB/TrEMBL | |
| K7EMZ2_HUMAN | UniProtKB/TrEMBL | |
| K7ENI9_HUMAN | UniProtKB/TrEMBL | |
| K7EQQ8_HUMAN | UniProtKB/TrEMBL | |
| K7EQU7_HUMAN | UniProtKB/TrEMBL | |
| K7EQY6_HUMAN | UniProtKB/TrEMBL | |
| K7ERR5_HUMAN | UniProtKB/TrEMBL | |
| Q9NXH9 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | O76103 | UniProtKB/Swiss-Prot |
| Q548Y5 | UniProtKB/Swiss-Prot | |
| Q8WVA6 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-09-29 | TRMT1 | tRNA methyltransferase 1 | tRNA methyltransferase 1 homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED | |
| 2012-06-19 | TRMT1 | tRNA methyltransferase 1 homolog (S. cerevisiae) | TRMT1 | TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on TRMT1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1601995 |
| Created: | 2007-04-27 |
| Species: | Homo sapiens |
| Last Modified: | 2019-10-08 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
