Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Identification of a mammalian homologue of the fungal Tom70 mitochondrial precursor protein import receptor as a thyroid hormone-regulated gene in specific brain regions. | Alvarez-Dolado M, etal., J Neurochem. 1999 Dec;73(6):2240-9. |
2. | Biogenesis of mitochondrial outer membrane proteins, problems and diseases. | Ellenrieder L, etal., Biol Chem. 2015 Oct 1;396(11):1199-213. doi: 10.1515/hsz-2015-0170. |
3. | Phosphoproteome mapping of cardiomyocyte mitochondria in a rat model of heart failure. | Giorgianni F, etal., Mol Cell Biochem. 2014 Apr;389(1-2):159-67. doi: 10.1007/s11010-013-1937-7. Epub 2014 Jan 7. |
4. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
5. | Assembly of beta-barrel proteins in the mitochondrial outer membrane. | Hohr AI, etal., Biochim Biophys Acta. 2015 Jan;1853(1):74-88. doi: 10.1016/j.bbamcr.2014.10.006. Epub 2014 Oct 8. |
6. | Tom70 serves as a molecular switch to determine pathological cardiac hypertrophy. | Li J, etal., Cell Res. 2014 Aug;24(8):977-93. doi: 10.1038/cr.2014.94. Epub 2014 Jul 15. |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
8. | Impaired transport of mitochondrial transcription factor A (TFAM) and the metabolic memory phenomenon associated with the progression of diabetic retinopathy. | Santos JM and Kowluru RA, Diabetes Metab Res Rev. 2013 Mar;29(3):204-13. doi: 10.1002/dmrr.2384. |
9. | Unlocking the presequence import pathway. | Schulz C, etal., Trends Cell Biol. 2015 May;25(5):265-75. doi: 10.1016/j.tcb.2014.12.001. Epub 2014 Dec 23. |
10. | Cooperation of protein machineries in mitochondrial protein sorting. | Wenz LS, etal., Biochim Biophys Acta. 2015 May;1853(5):1119-29. doi: 10.1016/j.bbamcr.2015.01.012. Epub 2015 Jan 26. |
PMID:9872452 | PMID:12200962 | PMID:12477932 | PMID:12526792 | PMID:15489334 | PMID:15644312 | PMID:16303743 | PMID:16822835 | PMID:16968702 | PMID:17558393 | PMID:18029348 | PMID:18187620 |
PMID:18331822 | PMID:18570454 | PMID:18669640 | PMID:18852034 | PMID:19946888 | PMID:20504278 | PMID:20531390 | PMID:20628368 | PMID:20877624 | PMID:21412788 | PMID:21771790 | PMID:21781956 |
PMID:21873635 | PMID:21903422 | PMID:22032846 | PMID:22280891 | PMID:22939629 | PMID:23068103 | PMID:23125841 | PMID:23414517 | PMID:23472196 | PMID:23503661 | PMID:23798571 | PMID:23911537 |
PMID:24149440 | PMID:24244333 | PMID:25277244 | PMID:25544563 | PMID:25591737 | PMID:25609649 | PMID:25609812 | PMID:25737280 | PMID:25921289 | PMID:25963833 | PMID:26344197 | PMID:26972000 |
PMID:27342126 | PMID:27880917 | PMID:28065597 | PMID:28675297 | PMID:29395920 | PMID:29509190 | PMID:29509794 | PMID:29568061 | PMID:30021884 | PMID:30575818 | PMID:30590033 | PMID:30629163 |
PMID:30833792 | PMID:30948266 | PMID:31046837 | PMID:31073040 | PMID:31280863 | PMID:31527615 | PMID:31536960 | PMID:31586073 | PMID:31617661 | PMID:31723608 | PMID:31907385 | PMID:32142684 |
PMID:32353859 | PMID:32356556 | PMID:32552912 | PMID:32687490 | PMID:32728199 | PMID:32877691 | PMID:32994395 | PMID:33022573 | PMID:33060197 | PMID:33845483 | PMID:33990585 | PMID:34079125 |
PMID:34228876 | PMID:34232536 | PMID:34502139 | PMID:34519429 | PMID:34591612 | PMID:34709727 | PMID:34798798 | PMID:34942634 | PMID:34964862 | PMID:35007762 | PMID:35025629 | PMID:35253629 |
PMID:35271311 | PMID:35509820 | PMID:35643212 | PMID:35831314 | PMID:35906200 | PMID:35944360 | PMID:36042349 | PMID:36215168 | PMID:36217030 | PMID:36261009 | PMID:36398858 | PMID:36590901 |
PMID:36896912 | PMID:37616343 | PMID:37682539 | PMID:37827155 | PMID:38297188 |
TOMM70 (Homo sapiens - human) |
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Tomm70a (Mus musculus - house mouse) |
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Tomm70 (Rattus norvegicus - Norway rat) |
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Tomm70 (Chinchilla lanigera - long-tailed chinchilla) |
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TOMM70 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TOMM70 (Canis lupus familiaris - dog) |
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Tomm70 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TOMM70 (Sus scrofa - pig) |
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TOMM70 (Chlorocebus sabaeus - green monkey) |
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Tomm70 (Heterocephalus glaber - naked mole-rat) |
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Variants in TOMM70
14 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 | copy number loss | See cases [RCV000051543] | Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 | copy number loss | See cases [RCV000135320] | Chr3:93819623..116887056 [GRCh38] Chr3:93538467..116605903 [GRCh37] Chr3:95021157..118088593 [NCBI36] Chr3:3q11.1-13.31 |
pathogenic |
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 | copy number loss | See cases [RCV000138186] | Chr3:97795369..115663349 [GRCh38] Chr3:97514213..115382196 [GRCh37] Chr3:98996903..116864886 [NCBI36] Chr3:3q11.2-13.31 |
pathogenic|uncertain significance |
GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1 | copy number loss | See cases [RCV000139111] | Chr3:99759385..100405781 [GRCh38] Chr3:99478229..100124625 [GRCh37] Chr3:100960919..101607315 [NCBI36] Chr3:3q12.1-12.2 |
uncertain significance |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 | copy number gain | See cases [RCV000142340] | Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 | copy number gain | See cases [RCV000143259] | Chr3:93819623..103888749 [GRCh38] Chr3:93538467..103607593 [GRCh37] Chr3:95021157..105090283 [NCBI36] Chr3:3q11.1-13.11 |
likely pathogenic|uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_014820.5(TOMM70):c.945T>C (p.Ser315=) | single nucleotide variant | not provided [RCV000966877] | Chr3:100377852 [GRCh38] Chr3:100096696 [GRCh37] Chr3:3q12.2 |
benign |
NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile) | single nucleotide variant | TOMM70-related neurodevelopmental disorder [RCV001090140] | Chr3:100365571 [GRCh38] Chr3:100084415 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.794C>T (p.Thr265Met) | single nucleotide variant | not provided [RCV001267887] | Chr3:100381705 [GRCh38] Chr3:100100549 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1745C>T (p.Ala582Val) | single nucleotide variant | not provided [RCV001267888] | Chr3:100365646 [GRCh38] Chr3:100084490 [GRCh37] Chr3:3q12.2 |
uncertain significance |
GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1 | copy number loss | not provided [RCV001259224] | Chr3:95563096..102371126 [GRCh37] Chr3:3q11.2-12.3 |
likely pathogenic |
NM_014820.5(TOMM70):c.493C>T (p.Gln165Ter) | single nucleotide variant | TOMM70-related neurodevelopmental disorder [RCV001807927] | Chr3:100386810 [GRCh38] Chr3:100105654 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1612A>G (p.Ile538Val) | single nucleotide variant | See cases [RCV003151957] | Chr3:100368105 [GRCh38] Chr3:100086949 [GRCh37] Chr3:3q12.2 |
likely benign |
NM_014820.5(TOMM70):c.1476del (p.Phe492fs) | deletion | See cases [RCV003151958] | Chr3:100369112 [GRCh38] Chr3:100087956 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1784C>G (p.Thr595Arg) | single nucleotide variant | Inborn genetic diseases [RCV002970009] | Chr3:100365607 [GRCh38] Chr3:100084451 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.122T>G (p.Leu41Arg) | single nucleotide variant | Inborn genetic diseases [RCV002771883] | Chr3:100400828 [GRCh38] Chr3:100119672 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.230T>G (p.Leu77Arg) | single nucleotide variant | Inborn genetic diseases [RCV002762705] | Chr3:100400720 [GRCh38] Chr3:100119564 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1367C>T (p.Ser456Leu) | single nucleotide variant | Inborn genetic diseases [RCV003003852] | Chr3:100372691 [GRCh38] Chr3:100091535 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1352C>T (p.Thr451Met) | single nucleotide variant | Inborn genetic diseases [RCV002747413] | Chr3:100372706 [GRCh38] Chr3:100091550 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1082C>G (p.Ala361Gly) | single nucleotide variant | Inborn genetic diseases [RCV002718644] | Chr3:100377715 [GRCh38] Chr3:100096559 [GRCh37] Chr3:3q12.2 |
uncertain significance |
NM_014820.5(TOMM70):c.1193C>T (p.Pro398Leu) | single nucleotide variant | Inborn genetic diseases [RCV002679303] | Chr3:100375052 [GRCh38] Chr3:100093896 [GRCh37] Chr3:3q12.2 |
uncertain significance |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003327614] | Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3 | copy number gain | not specified [RCV003986472] | Chr3:93519465..101464485 [GRCh37] Chr3:3q11.1-12.3 |
uncertain significance |
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. |
RH94012 |
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RH91974 |
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Bda09a02 |
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RH47396 |
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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 | 2426 | 2137 | 1715 | 619 | 1247 | 461 | 4357 | 2068 | 3408 | 402 | 1448 | 1607 | 172 | 1203 | 2788 | 4 | ||
Low | 13 | 851 | 11 | 5 | 701 | 4 | 129 | 326 | 17 | 12 | 6 | 3 | 1 | 1 | 2 | 2 | ||
Below cutoff | 3 | 3 |
RefSeq Transcripts | NM_014820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB018262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC093003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW044465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC003633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC052994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC065555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000284320 ⟹ ENSP00000284320 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000483945 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000492171 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_014820 ⟹ NP_055635 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_055635 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH03633 | (Get FASTA) | NCBI Sequence Viewer |
AAH52994 | (Get FASTA) | NCBI Sequence Viewer | |
BAA34439 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52062 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52067 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63999 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79822 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79823 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000284320 | ||
ENSP00000284320.5 | |||
GenBank Protein | O94826 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055635 ⟸ NM_014820 |
- UniProtKB: | D3DN48 (UniProtKB/Swiss-Prot), O94826 (UniProtKB/Swiss-Prot), B4DZ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000284320 ⟸ ENST00000284320 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O94826-F1-model_v2 | AlphaFold | O94826 | 1-608 | view protein structure |
RGD ID: | 6865116 | ||||||||
Promoter ID: | EPDNEW_H5723 | ||||||||
Type: | initiation region | ||||||||
Name: | TOMM70_2 | ||||||||
Description: | translocase of outer mitochondrial membrane 70 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H5725 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6865120 | ||||||||
Promoter ID: | EPDNEW_H5725 | ||||||||
Type: | initiation region | ||||||||
Name: | TOMM70_1 | ||||||||
Description: | translocase of outer mitochondrial membrane 70 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H5723 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6801816 | ||||||||
Promoter ID: | HG_KWN:45684 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour, Jurkat | ||||||||
Transcripts: | NM_014820 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:11985 | AgrOrtholog |
COSMIC | TOMM70 | COSMIC |
Ensembl Genes | ENSG00000154174 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000284320 | ENTREZGENE |
ENST00000284320.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000154174 | GTEx |
HGNC ID | HGNC:11985 | ENTREZGENE |
Human Proteome Map | TOMM70 | Human Proteome Map |
InterPro | TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9868 | UniProtKB/Swiss-Prot |
NCBI Gene | 9868 | ENTREZGENE |
OMIM | 606081 | OMIM |
PANTHER | MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/Swiss-Prot |
MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/Swiss-Prot | |
MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/TrEMBL | |
MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/TrEMBL | |
Pfam | TPR_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_8 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA36669 | PharmGKB |
PROSITE | TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B4DZ87 | ENTREZGENE, UniProtKB/TrEMBL |
D3DN48 | ENTREZGENE | |
O94826 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | D3DN48 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-29 | TOMM70 | translocase of outer mitochondrial membrane 70 | TOMM70A | translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |