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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |
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PMID:10982862 | PMID:12477932 | PMID:14702039 | PMID:15057824 | PMID:15489334 | PMID:16189514 | PMID:16344560 | PMID:16964243 | PMID:21044950 | PMID:21516116 | PMID:21873635 | PMID:22658674 |
PMID:22863883 | PMID:22939629 | PMID:24778252 | PMID:25416956 | PMID:26186194 | PMID:26308914 | PMID:26344197 | PMID:27499296 | PMID:28514442 | PMID:28515276 | PMID:28784718 | PMID:28986522 |
PMID:29568061 | PMID:29669786 | PMID:29955894 | PMID:30110629 | PMID:30289604 | PMID:31091453 | PMID:31586073 | PMID:32296183 | PMID:32353859 | PMID:32457219 | PMID:32694731 | PMID:32877691 |
PMID:33060197 |
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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TRMT1 (Chlorocebus sabaeus - African green monkey) |
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Trmt1 (Heterocephalus glaber - naked mole-rat) |
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RH80493 |
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D19S694E |
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WI-19708 |
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RH47064 |
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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. |
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 | adipose tissue | appendage | entire extraembryonic component | |
High | 1 | |||||||||||||||
Medium | 2426 | 2439 | 1660 | 563 | 1706 | 405 | 4252 | 1858 | 3408 | 388 | 1444 | 1601 | 171 | 1204 | 2687 | 3 |
Low | 6 | 545 | 63 | 59 | 242 | 59 | 103 | 335 | 301 | 30 | 3 | 7 | 101 | 1 | ||
Below cutoff | 2 | 2 | 1 | 13 | 1 | 1 | 1 |
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 | |
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: | ENST00000221504 ⟹ ENSP00000221504 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000357720 ⟹ ENSP00000350352 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000437766 ⟹ ENSP00000416149 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000585435 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000585622 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000586224 ⟹ ENSP00000468377 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000586830 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000587487 ⟹ ENSP00000465370 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000587633 ⟹ ENSP00000466716 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588229 ⟹ ENSP00000467984 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588511 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588746 ⟹ ENSP00000468031 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588813 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000590812 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000591425 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000591717 ⟹ ENSP00000466966 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592062 ⟹ ENSP00000466967 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592606 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592729 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592814 ⟹ ENSP00000467938 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592892 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593157 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593257 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001136035 ⟹ NP_001129507 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001142554 ⟹ NP_001136026 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001351760 ⟹ NP_001338689 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001351761 ⟹ NP_001338690 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001351762 ⟹ NP_001338691 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_017722 ⟹ NP_060192 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
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 | |
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: |
RefSeq Acc Id: | NP_001136026 ⟸ NM_001142554 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9NXH9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_060192 ⟸ NM_017722 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9NXH9 (UniProtKB/Swiss-Prot), A0A024R7I5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001338690 ⟸ NM_001351761 |
- Peptide Label: | isoform 3 |
- Sequence: |
RefSeq Acc Id: | NP_001338689 ⟸ NM_001351760 |
- Peptide Label: | isoform 2 |
- Sequence: |
RefSeq Acc Id: | NP_001338691 ⟸ NM_001351762 |
- Peptide Label: | isoform 4 |
- Sequence: |
RefSeq Acc Id: | ENSP00000416149 ⟸ ENST00000437766 |
RefSeq Acc Id: | ENSP00000468377 ⟸ ENST00000586224 |
RefSeq Acc Id: | ENSP00000466716 ⟸ ENST00000587633 |
RefSeq Acc Id: | ENSP00000465370 ⟸ ENST00000587487 |
RefSeq Acc Id: | ENSP00000467984 ⟸ ENST00000588229 |
RefSeq Acc Id: | ENSP00000468031 ⟸ ENST00000588746 |
RefSeq Acc Id: | ENSP00000221504 ⟸ ENST00000221504 |
RefSeq Acc Id: | ENSP00000466966 ⟸ ENST00000591717 |
RefSeq Acc Id: | ENSP00000467938 ⟸ ENST00000592814 |
RefSeq Acc Id: | ENSP00000466967 ⟸ ENST00000592062 |
RefSeq Acc Id: | ENSP00000350352 ⟸ ENST00000357720 |
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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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 | 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 | 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 | 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 | 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 | 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 | See cases [RCV000053945] | Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_017722.4(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|uncertain significance |
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_017722.4(TRMT1):c.1107-2A>G | single nucleotide variant | not provided [RCV000513125] | Chr19:13109840 [GRCh38] Chr19:13220654 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001351762.2(TRMT1):c.-382_-381del | deletion | not provided [RCV000513415] | Chr19:13115689..13115690 [GRCh38] Chr19:13226503..13226504 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001351762.2(TRMT1):c.-114_-83del | deletion | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 [RCV000754765] | Chr19:13112965..13112996 [GRCh38] Chr19:13223779..13223810 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_017722.4(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 |
NM_001136035.4(TRMT1):c.1554A>G (p.Pro518=) | single nucleotide variant | not provided [RCV000963183] | Chr19:13107603 [GRCh38] Chr19:13218417 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.1778A>G (p.Asp593Gly) | single nucleotide variant | not provided [RCV000895071] | Chr19:13105322 [GRCh38] Chr19:13216136 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001136035.4(TRMT1):c.1509G>A (p.Glu503=) | single nucleotide variant | not provided [RCV000964038] | Chr19:13107648 [GRCh38] Chr19:13218462 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.672G>A (p.Ser224=) | single nucleotide variant | not provided [RCV000928540] | Chr19:13112981 [GRCh38] Chr19:13223795 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001136035.4(TRMT1):c.174C>T (p.Thr58=) | single nucleotide variant | not provided [RCV000925576] | Chr19:13116226 [GRCh38] Chr19:13227040 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001136035.4(TRMT1):c.1353G>C (p.Leu451=) | single nucleotide variant | not provided [RCV000902559] | Chr19:13109425 [GRCh38] Chr19:13220239 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001136035.4(TRMT1):c.1177-8G>A | single nucleotide variant | not provided [RCV000903814] | Chr19:13109692 [GRCh38] Chr19:13220506 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.1032G>C (p.Leu344=) | single nucleotide variant | not provided [RCV000905452] | Chr19:13109989 [GRCh38] Chr19:13220803 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.1943dup (p.Gly649fs) | duplication | not provided [RCV001065939] | Chr19:13104971..13104972 [GRCh38] Chr19:13215785..13215786 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001136035.4(TRMT1):c.1404C>T (p.Ala468=) | single nucleotide variant | not provided [RCV000886265] | Chr19:13107853 [GRCh38] Chr19:13218667 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001136035.4(TRMT1):c.48G>T (p.Arg16=) | single nucleotide variant | not provided [RCV000975990] | Chr19:13116352 [GRCh38] Chr19:13227166 [GRCh37] Chr19:19p13.13 |
likely benign |
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 | copy number loss | not provided [RCV000846538] | Chr19:12354642..13424014 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001136035.4(TRMT1):c.1086G>A (p.Ala362=) | single nucleotide variant | not provided [RCV000960081] | Chr19:13109935 [GRCh38] Chr19:13220749 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.816G>A (p.Thr272=) | single nucleotide variant | not provided [RCV000887265] | Chr19:13112759 [GRCh38] Chr19:13223573 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.1312-4G>A | single nucleotide variant | not provided [RCV000953084] | Chr19:13109470 [GRCh38] Chr19:13220284 [GRCh37] Chr19:19p13.13 |
benign |
NM_001136035.4(TRMT1):c.1515A>T (p.Glu505Asp) | single nucleotide variant | not provided [RCV000911705] | Chr19:13107642 [GRCh38] Chr19:13218456 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001136035.4(TRMT1):c.1430C>T (p.Ser477Leu) | single nucleotide variant | Inborn genetic diseases [RCV001265910] | Chr19:13107827 [GRCh38] Chr19:13218641 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_001136035.4(TRMT1):c.312del (p.Lys105fs) | deletion | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 [RCV001262708] | Chr19:13115767 [GRCh38] Chr19:13226581 [GRCh37] Chr19:19p13.13 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:25980 | AgrOrtholog |
COSMIC | TRMT1 | COSMIC |
Ensembl Genes | ENSG00000104907 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 | |
ENST00000588511 | ENTREZGENE | |
ENST00000588746 | UniProtKB/TrEMBL | |
ENST00000591717 | UniProtKB/TrEMBL | |
ENST00000592062 | UniProtKB/Swiss-Prot | |
ENST00000592814 | UniProtKB/TrEMBL | |
ENST00000593157 | ENTREZGENE | |
Gene3D-CATH | 3.30.56.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000104907 | GTEx |
HGNC ID | HGNC:25980 | ENTREZGENE |
Human Proteome Map | TRMT1 | Human Proteome Map |
InterPro | SAM-dependent_MTases | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Trm1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNA_met_Trm1_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_CCCH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_CCCH_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:55621 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 55621 | ENTREZGENE |
OMIM | 611669 | OMIM |
618302 | OMIM | |
PANTHER | PTHR10631 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | TRM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
zf-CCCH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA134867808 | PharmGKB |
PROSITE | SAM_MT_TRM1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ZF_C3H1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | ZnF_C3H1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53335 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF90229 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TIGRFAMs | TRM1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 |
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 |