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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21466612 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21466612 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline |
3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | RGD automated import pipeline for gene-chemical interactions |
5. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:10938081 | PMID:11175783 | PMID:11279123 | PMID:11543634 | PMID:12477932 | PMID:12706105 | PMID:15081106 | PMID:15489334 | PMID:16196087 | PMID:16236267 | PMID:16303743 | PMID:17314511 |
PMID:17353931 | PMID:17873122 | PMID:18029348 | PMID:18539099 | PMID:20020773 | PMID:20186120 | PMID:20360068 | PMID:20877624 | PMID:21139048 | PMID:21145461 | PMID:21182203 | PMID:21873635 |
PMID:21890473 | PMID:21906983 | PMID:21907836 | PMID:22013104 | PMID:22658674 | PMID:22904065 | PMID:22939629 | PMID:22990118 | PMID:23184937 | PMID:23246001 | PMID:23251661 | PMID:23443559 |
PMID:23473034 | PMID:23667531 | PMID:23973329 | PMID:24189400 | PMID:24244333 | PMID:24457600 | PMID:24816145 | PMID:25324306 | PMID:25437307 | PMID:25814554 | PMID:25900982 | PMID:25921289 |
PMID:26186194 | PMID:26344197 | PMID:26485645 | PMID:26496610 | PMID:26549023 | PMID:26687479 | PMID:26725010 | PMID:26845356 | PMID:26949251 | PMID:27025967 | PMID:27684187 | PMID:28077445 |
PMID:28514442 | PMID:28515276 | PMID:28533407 | PMID:28675297 | PMID:28712289 | PMID:28752220 | PMID:28986522 | PMID:29053956 | PMID:29128334 | PMID:29229926 | PMID:29298432 | PMID:29395067 |
PMID:29507755 | PMID:29509190 | PMID:29566152 | PMID:29568061 | PMID:29721183 | PMID:29802200 | PMID:29845934 | PMID:29955894 | PMID:30021884 | PMID:30196744 | PMID:30209976 | PMID:30463901 |
PMID:30471916 | PMID:30581152 | PMID:30833792 | PMID:31091453 | PMID:31527615 | PMID:31540324 | PMID:31586073 | PMID:31617661 | PMID:31685992 | PMID:31722399 | PMID:31822558 | PMID:31980649 |
PMID:32838362 | PMID:32877691 |
MRPS22 (Homo sapiens - human) |
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Mrps22 (Mus musculus - house mouse) |
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Mrps22 (Rattus norvegicus - Norway rat) |
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Mrps22 (Chinchilla lanigera - long-tailed chinchilla) |
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MRPS22 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MRPS22 (Canis lupus familiaris - dog) |
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Mrps22 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MRPS22 (Sus scrofa - pig) |
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MRPS22 (Chlorocebus sabaeus - African green monkey) |
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Mrps22 (Heterocephalus glaber - naked mole-rat) |
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STS-N62924 |
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RH93370 |
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RH98266 |
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A004F45 |
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D10S16 | No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D10S16 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2268 | 1998 | 1553 | 465 | 1170 | 336 | 4304 | 1969 | 2566 | 334 | 1354 | 1469 | 143 | 1190 | 2772 | 3 | ||
Low | 166 | 984 | 171 | 158 | 776 | 129 | 52 | 225 | 1163 | 85 | 100 | 139 | 30 | 1 | 14 | 16 | 1 | 1 |
Below cutoff | 5 | 2 | 4 | 4 | 4 | 2 | 2 | 1 |
RefSeq Transcripts | NG_012174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001363857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_020191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB061314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB208981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC024933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF063603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF226045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF321613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL110129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC009296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000310776 ⟹ ENSP00000310785 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465056 ⟹ ENSP00000418233 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465373 ⟹ ENSP00000419920 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000466690 ⟹ ENSP00000419737 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000478464 ⟹ ENSP00000419303 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000480644 ⟹ ENSP00000420229 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000480938 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000483545 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000486705 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000489521 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000492644 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495075 ⟹ ENSP00000418008 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495225 ⟹ ENSP00000417104 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000498505 ⟹ ENSP00000420482 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001363857 ⟹ NP_001350786 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001363893 ⟹ NP_001350822 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_020191 ⟹ NP_064576 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001350786 | (Get FASTA) | NCBI Sequence Viewer |
NP_001350822 | (Get FASTA) | NCBI Sequence Viewer | |
NP_064576 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF86945 | (Get FASTA) | NCBI Sequence Viewer |
AAG43162 | (Get FASTA) | NCBI Sequence Viewer | |
AAH09296 | (Get FASTA) | NCBI Sequence Viewer | |
AAK01406 | (Get FASTA) | NCBI Sequence Viewer | |
BAB54962 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11619 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92218 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85541 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79041 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79042 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79043 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79044 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79045 | (Get FASTA) | NCBI Sequence Viewer | |
P82650 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_064576 ⟸ NM_020191 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P82650 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001350822 ⟸ NM_001363893 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001350786 ⟸ NM_001363857 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | ENSP00000419303 ⟸ ENST00000478464 |
RefSeq Acc Id: | ENSP00000418233 ⟸ ENST00000465056 |
RefSeq Acc Id: | ENSP00000419920 ⟸ ENST00000465373 |
RefSeq Acc Id: | ENSP00000419737 ⟸ ENST00000466690 |
RefSeq Acc Id: | ENSP00000420229 ⟸ ENST00000480644 |
RefSeq Acc Id: | ENSP00000418008 ⟸ ENST00000495075 |
RefSeq Acc Id: | ENSP00000417104 ⟸ ENST00000495225 |
RefSeq Acc Id: | ENSP00000310785 ⟸ ENST00000310776 |
RefSeq Acc Id: | ENSP00000420482 ⟸ ENST00000498505 |
RGD ID: | 6865820 | ||||||||
Promoter ID: | EPDNEW_H6075 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | MRPS22_1 | ||||||||
Description: | mitochondrial ribosomal protein S22 | ||||||||
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: | 6801328 | ||||||||
Promoter ID: | HG_KWN:46334 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | UC003ETB.1, UC003ETC.1, UC003ETD.1, UC003ETE.1 | ||||||||
Position: |
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RGD ID: | 6852228 | ||||||||
Promoter ID: | EP73920 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | HS_MRPS22 | ||||||||
Description: | Mitochondrial ribosomal protein S22. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_020191.3(MRPS22):c.644T>C (p.Leu215Pro) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000023481] | Chr3:139350318 [GRCh38] Chr3:139069160 [GRCh37] Chr3:3q23 |
pathogenic |
NM_020191.3(MRPS22):c.509G>A (p.Arg170His) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000005019]|not provided [RCV000799575] | Chr3:139350183 [GRCh38] Chr3:139069025 [GRCh37] Chr3:3q23 |
pathogenic |
NM_020191.3(MRPS22):c.42_43delinsAG (p.Arg15Gly) | indel | not provided [RCV000722373] | Chr3:139344068..139344069 [GRCh38] Chr3:139062910..139062911 [GRCh37] Chr3:3q23 |
uncertain significance |
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] | Chr3:132690641..141064444 [GRCh38] Chr3:132409485..140783286 [GRCh37] Chr3:133892175..142265976 [NCBI36] Chr3:3q22.1-23 |
pathogenic |
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 | copy number loss | See cases [RCV000051572] | Chr3:135227451..145870770 [GRCh38] Chr3:134946293..145588557 [GRCh37] Chr3:136428983..147071247 [NCBI36] Chr3:3q22.2-24 |
pathogenic |
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] | Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29 |
pathogenic |
NM_020191.2(MRPS22):c.1014G>A (p.Lys338=) | single nucleotide variant | Malignant melanoma [RCV000060717] | Chr3:139356945 [GRCh38] Chr3:139075787 [GRCh37] Chr3:140558477 [NCBI36] Chr3:3q23 |
not provided |
NM_020191.3(MRPS22):c.201A>G (p.Lys67=) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001150404]|not provided [RCV000677063]|not specified [RCV000126806] | Chr3:139346906 [GRCh38] Chr3:139065748 [GRCh37] Chr3:3q23 |
benign|likely benign |
NM_020191.3(MRPS22):c.283A>C (p.Ile95Leu) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000359793]|not provided [RCV000224358]|not specified [RCV000126807] | Chr3:139346988 [GRCh38] Chr3:139065830 [GRCh37] Chr3:3q23 |
benign|likely benign |
NM_020191.3(MRPS22):c.6G>A (p.Ala2=) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001148880]|not provided [RCV000912354]|not specified [RCV000126808] | Chr3:139344032 [GRCh38] Chr3:139062874 [GRCh37] Chr3:3q23 |
benign|likely benign|uncertain significance |
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 | copy number loss | See cases [RCV000134711] | Chr3:137932000..144468739 [GRCh38] Chr3:137650842..144187581 [GRCh37] Chr3:139133532..145670271 [NCBI36] Chr3:3q22.3-24 |
pathogenic |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 | copy number gain | See cases [RCV000134948] | Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 | copy number loss | See cases [RCV000136558] | Chr3:129817243..143381624 [GRCh38] Chr3:129536086..143100466 [GRCh37] Chr3:131018776..144583156 [NCBI36] Chr3:3q22.1-24 |
pathogenic |
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 | copy number gain | See cases [RCV000136768] | Chr3:138629115..140055056 [GRCh38] Chr3:138347957..139773898 [GRCh37] Chr3:139830647..141256588 [NCBI36] Chr3:3q22.3-23 |
pathogenic |
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 | copy number loss | See cases [RCV000138135] | Chr3:134257180..149729538 [GRCh38] Chr3:133976022..149447325 [GRCh37] Chr3:135458712..150930015 [NCBI36] Chr3:3q22.2-25.1 |
pathogenic|likely benign |
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 | copy number loss | See cases [RCV000139135] | Chr3:137991123..143618786 [GRCh38] Chr3:137709965..143337628 [GRCh37] Chr3:139192655..144820318 [NCBI36] Chr3:3q22.3-24 |
pathogenic |
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 | copy number loss | See cases [RCV000140453] | Chr3:134333553..141701458 [GRCh38] Chr3:134052395..141420300 [GRCh37] Chr3:135535085..142902990 [NCBI36] Chr3:3q22.2-23 |
pathogenic |
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 | copy number loss | See cases [RCV000140995] | Chr3:129817243..141425155 [GRCh38] Chr3:129536086..141143997 [GRCh37] Chr3:131018776..142626687 [NCBI36] Chr3:3q22.1-23 |
pathogenic |
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 | copy number gain | See cases [RCV000142010] | Chr3:126106779..140918089 [GRCh38] Chr3:125825622..140636931 [GRCh37] Chr3:127308312..142119621 [NCBI36] Chr3:3q21.3-23 |
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 3q22.1-24(chr3:132716978-144784743)x1 | copy number loss | See cases [RCV000143634] | Chr3:132716978..144784743 [GRCh38] Chr3:132435822..144503585 [GRCh37] Chr3:133918512..145986275 [NCBI36] Chr3:3q22.1-24 |
pathogenic |
NM_020191.3(MRPS22):c.327A>G (p.Ala109=) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000265078]|not provided [RCV000931370] | Chr3:139347032 [GRCh38] Chr3:139065874 [GRCh37] Chr3:3q23 |
benign|uncertain significance |
NM_020191.3(MRPS22):c.938C>T (p.Ser313Leu) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001144323]|not provided [RCV000197847] | Chr3:139355741 [GRCh38] Chr3:139074583 [GRCh37] Chr3:3q23 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020191.3(MRPS22):c.173-15_173-14dup | duplication | not specified [RCV000197881] | Chr3:139346862..139346863 [GRCh38] Chr3:139065704..139065705 [GRCh37] Chr3:3q23 |
likely pathogenic|benign |
NM_020191.3(MRPS22):c.664G>A (p.Asp222Asn) | single nucleotide variant | not provided [RCV000198289] | Chr3:139350992 [GRCh38] Chr3:139069834 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.787C>T (p.Arg263Cys) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001144321] | Chr3:139352701 [GRCh38] Chr3:139071543 [GRCh37] Chr3:3q23 |
likely pathogenic|uncertain significance |
NM_020191.2(MRPS22):c.232A>G (p.Ile78Val) | single nucleotide variant | not specified [RCV000199578] | Chr3:139346937 [GRCh38] Chr3:139065779 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.3(MRPS22):c.741C>G (p.His247Gln) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001144320]|not provided [RCV000757468] | Chr3:139352655 [GRCh38] Chr3:139071497 [GRCh37] Chr3:3q23 |
benign|likely benign |
NM_020191.3(MRPS22):c.617C>T (p.Thr206Ile) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000374368]|not provided [RCV000677064] | Chr3:139350291 [GRCh38] Chr3:139069133 [GRCh37] Chr3:3q23 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_020191.3(MRPS22):c.503G>A (p.Arg168Gln) | single nucleotide variant | not provided [RCV000199712] | Chr3:139348323 [GRCh38] Chr3:139067165 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.768_769del (p.Gly257fs) | deletion | not provided [RCV000199847] | Chr3:139352681..139352682 [GRCh38] Chr3:139071523..139071524 [GRCh37] Chr3:3q23 |
pathogenic |
NM_020191.3(MRPS22):c.502C>T (p.Arg168Trp) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001150405]|not provided [RCV000196283] | Chr3:139348322 [GRCh38] Chr3:139067164 [GRCh37] Chr3:3q23 |
likely pathogenic|uncertain significance |
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 | copy number gain | See cases [RCV000239877] | Chr3:135935129..141867748 [GRCh37] Chr3:3q22.3-23 |
likely pathogenic |
NM_020191.3(MRPS22):c.90G>A (p.Gln30=) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000268532]|not specified [RCV000600779] | Chr3:139344116 [GRCh38] Chr3:139062958 [GRCh37] Chr3:3q23 |
likely benign|uncertain significance |
NM_020191.3(MRPS22):c.652A>G (p.Met218Val) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000316625] | Chr3:139350980 [GRCh38] Chr3:139069822 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.340-14T>A | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000319677]|not specified [RCV000443751] | Chr3:139348146 [GRCh38] Chr3:139066988 [GRCh37] Chr3:3q23 |
likely benign|uncertain significance |
NM_020191.3(MRPS22):c.172+11T>C | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000304954] | Chr3:139344209 [GRCh38] Chr3:139063051 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.732G>A (p.Lys244=) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000389799] | Chr3:139351060 [GRCh38] Chr3:139069902 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.799T>C (p.Tyr267His) | single nucleotide variant | Combined oxidative phosphorylation deficiency [RCV000295515] | Chr3:139352713 [GRCh38] Chr3:139071555 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.4(MRPS22):c.648+19del | deletion | Combined oxidative phosphorylation deficiency [RCV000261452] | Chr3:139350338 [GRCh38] Chr3:139069180 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.1045T>A (p.Tyr349Asn) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV000386191] | Chr3:139356976 [GRCh38] Chr3:139075818 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.4(MRPS22):c.987+15del | deletion | Combined oxidative phosphorylation deficiency [RCV000350316]|not specified [RCV000486503] | Chr3:139355797 [GRCh38] Chr3:139074639 [GRCh37] Chr3:3q23 |
likely benign|uncertain significance |
NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) | single nucleotide variant | OVARIAN DYSGENESIS 7 [RCV000680193]|Primary Ovarian Insufficiency [RCV001002739]|Primary ovarian failure [RCV000590830] | Chr3:139348224 [GRCh38] Chr3:139067066 [GRCh37] Chr3:3q23 |
pathogenic|uncertain significance |
NM_020191.3(MRPS22):c.605G>A (p.Arg202His) | single nucleotide variant | 46,XX gonadal dysgenesis [RCV000590993]|OVARIAN DYSGENESIS 7 [RCV000680194] | Chr3:139350279 [GRCh38] Chr3:139069121 [GRCh37] Chr3:3q23 |
pathogenic |
NM_020191.3(MRPS22):c.767G>A (p.Arg256His) | single nucleotide variant | not specified [RCV000423782] | Chr3:139352681 [GRCh38] Chr3:139071523 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.3(MRPS22):c.-8-34dup | duplication | not specified [RCV000486843] | Chr3:139343983..139343984 [GRCh38] Chr3:139062825..139062826 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.3(MRPS22):c.878+1G>T | single nucleotide variant | not provided [RCV000498674] | Chr3:139352793 [GRCh38] Chr3:139071635 [GRCh37] Chr3:3q23 |
pathogenic|likely pathogenic |
Single allele | deletion | Blepharophimosis, ptosis, and epicanthus inversus [RCV000503510] | Chr3:138944012..139141037 [GRCh37] Chr3:3q23 |
pathogenic |
GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3 | copy number gain | See cases [RCV000511927] | Chr3:138413416..139096053 [GRCh37] Chr3:3q22.3-23 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_020191.3(MRPS22):c.141G>T (p.Gly47=) | single nucleotide variant | not specified [RCV000609409] | Chr3:139344167 [GRCh38] Chr3:139063009 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.3(MRPS22):c.173-14A>G | single nucleotide variant | not specified [RCV000609685] | Chr3:139346864 [GRCh38] Chr3:139065706 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.4(MRPS22):c.987+15dup | duplication | not specified [RCV000615732] | Chr3:139355796..139355797 [GRCh38] Chr3:139074638..139074639 [GRCh37] Chr3:3q23 |
likely benign |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_020191.3(MRPS22):c.321T>C (p.Thr107=) | single nucleotide variant | not provided [RCV000922274]|not specified [RCV000616984] | Chr3:139347026 [GRCh38] Chr3:139065868 [GRCh37] Chr3:3q23 |
benign|likely benign |
NM_020191.3(MRPS22):c.732+13T>G | single nucleotide variant | not specified [RCV000604755] | Chr3:139351073 [GRCh38] Chr3:139069915 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.3(MRPS22):c.42_44GAG[1] (p.Arg15del) | microsatellite | Inborn genetic diseases [RCV000622577] | Chr3:139344068..139344070 [GRCh38] Chr3:139062910..139062912 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.489T>G (p.Tyr163Ter) | single nucleotide variant | Inborn genetic diseases [RCV000623532] | Chr3:139348309 [GRCh38] Chr3:139067151 [GRCh37] Chr3:3q23 |
pathogenic |
GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3 | copy number gain | not provided [RCV000682308] | Chr3:138023193..140565017 [GRCh37] Chr3:3q22.3-23 |
uncertain significance |
GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1 | copy number loss | not provided [RCV000682310] | Chr3:138525030..139146538 [GRCh37] Chr3:3q22.3-23 |
pathogenic |
NM_020191.3(MRPS22):c.508C>T (p.Arg170Cys) | single nucleotide variant | Combined oxidative phosphorylation deficiency 1 [RCV000714744] | Chr3:139350182 [GRCh38] Chr3:139069024 [GRCh37] Chr3:3q23 |
uncertain significance |
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 |
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) | copy number gain | not provided [RCV000767703] | Chr3:135288025..146874012 [GRCh37] Chr3:3q22.2-24 |
pathogenic |
NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs) | duplication | Abnormality of metabolism/homeostasis [RCV001197161]|Combined oxidative phosphorylation deficiency 5 [RCV000778679] | Chr3:139356962..139356963 [GRCh38] Chr3:139075804..139075805 [GRCh37] Chr3:3q23 |
pathogenic|uncertain significance |
NM_020191.4(MRPS22):c.666C>T (p.Asp222=) | single nucleotide variant | not provided [RCV000923741] | Chr3:139350994 [GRCh38] Chr3:139069836 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.4(MRPS22):c.93C>G (p.Pro31=) | single nucleotide variant | not provided [RCV000927488] | Chr3:139344119 [GRCh38] Chr3:139062961 [GRCh37] Chr3:3q23 |
likely benign |
NM_020191.3(MRPS22):c.732+210A>G | single nucleotide variant | not provided [RCV000837582] | Chr3:139351270 [GRCh38] Chr3:139070112 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.172+79G>A | single nucleotide variant | not provided [RCV000835747] | Chr3:139344277 [GRCh38] Chr3:139063119 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.504+92C>T | single nucleotide variant | not provided [RCV000835748] | Chr3:139348416 [GRCh38] Chr3:139067258 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.649-126C>A | single nucleotide variant | not provided [RCV000835749] | Chr3:139350851 [GRCh38] Chr3:139069693 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.523A>G (p.Arg175Gly) | single nucleotide variant | not provided [RCV000797823] | Chr3:139350197 [GRCh38] Chr3:139069039 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.504+217A>G | single nucleotide variant | not provided [RCV000838173] | Chr3:139348541 [GRCh38] Chr3:139067383 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.649-295del | deletion | not provided [RCV000842775] | Chr3:139350682 [GRCh38] Chr3:139069524 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.879-330T>A | single nucleotide variant | not provided [RCV000830532] | Chr3:139355352 [GRCh38] Chr3:139074194 [GRCh37] Chr3:3q23 |
benign |
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 | copy number gain | not provided [RCV000846949] | Chr3:135186881..140826836 [GRCh37] Chr3:3q22.2-23 |
uncertain significance |
NM_020191.3(MRPS22):c.173-291G>A | single nucleotide variant | not provided [RCV000830527] | Chr3:139346587 [GRCh38] Chr3:139065429 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.733-262C>G | single nucleotide variant | not provided [RCV000830529] | Chr3:139352385 [GRCh38] Chr3:139071227 [GRCh37] Chr3:3q23 |
benign |
NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001148882] | Chr3:139344192 [GRCh38] Chr3:139063034 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.3(MRPS22):c.988-33A>G | single nucleotide variant | not provided [RCV000830906] | Chr3:139356886 [GRCh38] Chr3:139075728 [GRCh37] Chr3:3q23 |
benign |
NM_020191.3(MRPS22):c.649-250T>C | single nucleotide variant | not provided [RCV000837712] | Chr3:139350727 [GRCh38] Chr3:139069569 [GRCh37] Chr3:3q23 |
benign |
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly) | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001148881] | Chr3:139344090 [GRCh38] Chr3:139062932 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.4(MRPS22):c.27G>C (p.Leu9Phe) | single nucleotide variant | not provided [RCV000886483] | Chr3:139344053 [GRCh38] Chr3:139062895 [GRCh37] Chr3:3q23 |
benign |
NM_020191.4(MRPS22):c.172+7G>T | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001148883]|not provided [RCV000920129] | Chr3:139344205 [GRCh38] Chr3:139063047 [GRCh37] Chr3:3q23 |
likely benign|uncertain significance |
NM_020191.4(MRPS22):c.878+13T>C | single nucleotide variant | Combined oxidative phosphorylation deficiency 5 [RCV001144322] | Chr3:139352805 [GRCh38] Chr3:139071647 [GRCh37] Chr3:3q23 |
uncertain significance |
NM_020191.4(MRPS22):c.938C>A (p.Ser313Ter) | single nucleotide variant | not provided [RCV001171572] | Chr3:139355741 [GRCh38] Chr3:139074583 [GRCh37] Chr3:3q23 |
likely pathogenic |
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 | copy number gain | See cases [RCV001194586] | Chr3:138145289..162275610 [GRCh37] Chr3:3q22.3-26.1 |
pathogenic |
GRCh37/hg19 3q23(chr3:138737687-142053396)x1 | copy number loss | not provided [RCV001259239] | Chr3:138737687..142053396 [GRCh37] Chr3:3q23 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14508 | AgrOrtholog |
COSMIC | MRPS22 | COSMIC |
Ensembl Genes | ENSG00000175110 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000310785 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000417104 | UniProtKB/TrEMBL | |
ENSP00000418008 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000418233 | UniProtKB/TrEMBL | |
ENSP00000419303 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSP00000419737 | UniProtKB/TrEMBL | |
ENSP00000419920 | UniProtKB/TrEMBL | |
ENSP00000420229 | UniProtKB/TrEMBL | |
ENSP00000420482 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000310776 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000465056 | UniProtKB/TrEMBL | |
ENST00000465373 | UniProtKB/TrEMBL | |
ENST00000466690 | UniProtKB/TrEMBL | |
ENST00000478464 | ENTREZGENE, UniProtKB/TrEMBL | |
ENST00000480644 | UniProtKB/TrEMBL | |
ENST00000495075 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000495225 | UniProtKB/TrEMBL | |
ENST00000498505 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000175110 | GTEx |
HGNC ID | HGNC:14508 | ENTREZGENE |
Human Proteome Map | MRPS22 | Human Proteome Map |
InterPro | Ribosomal_S22_mit | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:56945 | UniProtKB/Swiss-Prot |
NCBI Gene | 56945 | ENTREZGENE |
OMIM | 605810 | OMIM |
611719 | OMIM | |
618117 | OMIM | |
PANTHER | PTHR13071 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | MRP-S22 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA31010 | PharmGKB |
UniGene | Hs.745001 | ENTREZGENE |
UniProt | C9J5D8_HUMAN | UniProtKB/TrEMBL |
G5E9V5_HUMAN | UniProtKB/TrEMBL | |
G5E9W7_HUMAN | UniProtKB/TrEMBL | |
H7C5F2_HUMAN | UniProtKB/TrEMBL | |
H7C5H3_HUMAN | UniProtKB/TrEMBL | |
H7C5L9_HUMAN | UniProtKB/TrEMBL | |
P82650 | ENTREZGENE | |
Q96Q16_HUMAN | UniProtKB/TrEMBL | |
RT22_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q9H3I1 | UniProtKB/Swiss-Prot |