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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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Breast Neoplasms | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21466612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 - curated| 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 |
References - uncurated| PubMed | 10938081 11175783 11279123 11543634 12477932 12706105 15081106 15489334 16196087 16236267 16303743 17314511 17353931 17873122 18029348 18539099 20020773 20186120 20360068 20877624 21139048 21145461 21182203 21873635 21890473 21906983 21907836 22013104 22658674 22904065 22939629 22990118 23184937 23246001 23251661 23443559 23473034 23667531 23973329 24189400 24244333 24457600 24816145 25324306 25814554 25900982 25921289 26186194 26344197 26496610 26549023 26687479 26725010 26845356 27025967 27684187 28077445 28514442 28515276 28533407 28752220 29053956 29128334 29229926 29507755 29509190 29566152 29568061 29845934 30196744 30209976 30463901 30471916 |
Comparative Map Data| 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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Position Markers| 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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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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RNA-SEQ Expression| leukocyte | zone of skin | lymph node | large intestine | breast | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | ovary | adipose tissue | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | muscle of leg | muscle of arm | skeletal muscle of trunk | temporal lobe | forebrain | placenta | hindbrain | cerebellum | thyroid gland | lung | spleen | liver | small intestine | gall bladder | kidney | duodenum | spinal cord | prostate gland | adrenal gland | thymus | bone marrow | tonsil | fallopian tube | left kidney | frontal lobe | left renal pelvis | right renal pelvis | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 1 | 1 | 2 | 1 | 1 | 23 | 1 | 20 | 1 | 1 | 15 | 2 | 1 | 1 | 5 | 1 | 1 | 2 | 1 | 1 | 19 | 1 | 11 | 2 | 2 | 2 | 19 | 2 | 1 | 18 | 1 | 2 | 3 | 1 | 1 | 1 | |||||||||||||||||
| Low | 3 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 6 | 3 | 1 | |||||||||||||||||||||||||||||||||||||||
| Below cutoff |
Nucleotide Sequences| 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: |
TGATAATCATGGCGCCCCTCGGAACAACTGTATTGCTGTGGAGCCTCTTGAGGAGTTCTCCGGGhide sequence |
Protein Sequences| 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: |
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAAESGSPEhide 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 |
Promoters| 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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Clinical Variants| 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 | Blepharophimosis [RCV000051572]|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 | 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 [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 | not provided [RCV000912354]|not specified [RCV000126808] | Chr3:139344032 [GRCh38] Chr3:139062874 [GRCh37] Chr3:3q23 |
benign|likely benign |
| 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 [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 | not specified [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] | Chr3:139346863..139346864 [GRCh38] Chr3:139065705..139065706 [GRCh37] Chr3:3q23 |
likely pathogenic|benign |
| NM_020191.3(MRPS22):c.664G>A (p.Asp222Asn) | single nucleotide variant | not specified [RCV000198289] | Chr3:139350992 [GRCh38] Chr3:139069834 [GRCh37] Chr3:3q23 |
uncertain significance |
| NM_020191.2(MRPS22):c.787C>T (p.Arg263Cys) | single nucleotide variant | not provided [RCV000198671] | Chr3:139352701 [GRCh38] Chr3:139071543 [GRCh37] Chr3:3q23 |
likely pathogenic |
| 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 | not provided [RCV000757468]|not specified [RCV000195991] | 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 [RCV000374368]|not provided [RCV000677064]|not specified [RCV000196122] | 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 specified [RCV000199712] | Chr3:139348323 [GRCh38] Chr3:139067165 [GRCh37] Chr3:3q23 |
uncertain significance |
| NM_020191.3(MRPS22):c.768_769del (p.Gly257fs) | deletion | not provided [RCV000199847] | Chr3:139352682..139352683 [GRCh38] Chr3:139071524..139071525 [GRCh37] Chr3:3q23 |
pathogenic |
| NM_020191.3(MRPS22):c.502C>T (p.Arg168Trp) | single nucleotide variant | not provided [RCV000196283] | Chr3:139348322 [GRCh38] Chr3:139067164 [GRCh37] Chr3:3q23 |
likely pathogenic |
| 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 [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 [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 [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 [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 [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_001363857.1(MRPS22):c.525+19del | deletion | Combined oxidative phosphorylation deficiency [RCV000261452] | Chr3:139350341 [GRCh38] Chr3:139069183 [GRCh37] Chr3:3q23 |
uncertain significance |
| NM_020191.3(MRPS22):c.1045T>A (p.Tyr349Asn) | single nucleotide variant | Combined oxidative phosphorylation deficiency [RCV000386191] | Chr3:139356976 [GRCh38] Chr3:139075818 [GRCh37] Chr3:3q23 |
uncertain significance |
| NM_001363857.1(MRPS22):c.864+15del | deletion | Combined oxidative phosphorylation deficiency [RCV000350316]|not specified [RCV000486503] | Chr3:139355805 [GRCh38] Chr3:139074647 [GRCh37] Chr3:3q23 |
likely benign|uncertain significance |
| NM_020191.3(MRPS22):c.404G>A (p.Arg135Gln) | single nucleotide variant | OVARIAN DYSGENESIS 7 [RCV000680193]|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] | Chr3:139343985 [GRCh38] Chr3:139062827 [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 |
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_001363857.1(MRPS22):c.864+15dup | duplication | not specified [RCV000615732] | Chr3:139355805 [GRCh38] Chr3:139074647 [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] | Chr3:139344071..139344073 [GRCh38] Chr3:139062913..139062915 [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 | Combined oxidative phosphorylation deficiency 5 [RCV000778679] | Chr3:139356963..139356966 [GRCh38] Chr3:139075804 [GRCh37] Chr3:3q23 |
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_020191.3(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.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 | not provided [RCV000920129] | Chr3:139344205 [GRCh38] Chr3:139063047 [GRCh37] Chr3:3q23 |
likely benign |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:14508 | AgrOrtholog |
| COSMIC | MRPS22 | COSMIC |
| Ensembl Genes | ENSG00000175110 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000310785 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000417104 | UniProtKB/TrEMBL | |
| ENSP00000418008 | UniProtKB/Swiss-Prot | |
| ENSP00000418233 | ENTREZGENE, 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 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000465373 | UniProtKB/TrEMBL | |
| ENST00000466690 | UniProtKB/TrEMBL | |
| ENST00000478464 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000480644 | UniProtKB/TrEMBL | |
| ENST00000495075 | 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 |
| KEGG Report | hsa:56945 | UniProtKB/Swiss-Prot |
| NCBI Gene | 56945 | ENTREZGENE |
| OMIM | 605810 | OMIM |
| 611719 | OMIM | |
| 618117 | OMIM | |
| PANTHER | PTHR13071 | UniProtKB/Swiss-Prot |
| Pfam | MRP-S22 | UniProtKB/Swiss-Prot |
| 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 |
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| More on MRPS22 | |
|
Alliance Gene |
|
NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1353996 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| 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.
