 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations |
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Analyze GeneStrainQTL List |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Molecular Pathway AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Hinnebusch AG Annu Rev Biochem. 2014;83:779-812. doi: 10.1146/annurev-biochem-060713-035802. Epub 2014 Jan 29. |
| 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 |
References - uncurated| PubMed | 8995409 8995410 9822659 10493829 10504338 12477932 12514125 12588972 14519125 14702039 15047060 15146197 15231748 15302935 15489334 15840729 15946946 16083285 16097034 16169070 16189514 16286006 16341674 16964243 17081983 17322308 17361185 17403899 17581632 18599441 18628297 19245811 19490893 19615732 19915574 20020773 20360068 20508642 21081666 21102463 21145461 21209461 21319273 21873635 21900206 22016036 22145905 22190034 22323517 22645313 22658674 22681889 22863883 22939629 23128233 23145062 23463506 23623729 23733421 24092755 24396066 24515614 24711643 24912683 25476789 25823503 25849773 25852190 25921289 25963833 26186194 26344197 26460568 26496610 26673895 27591049 27880917 28031328 28231410 28514442 28515276 28685749 28854163 28977666 29128334 29228324 29229926 29426014 29507755 29845934 29987188 29991511 30033366 30196744 30217970 30258100 30279242 30425250 30561431 31181967 |
Genomics
Comparative Map Data| EIF3C (Homo sapiens - human) |
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| Eif3c (Mus musculus - house mouse) |
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| Eif3c (Rattus norvegicus - Norway rat) |
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Position Markers| D16S2553E |
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| SGC31754 |
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| GDB:434012 |
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| L17877 |
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miRNA Target Status
Predicted Target Of
| 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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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001037808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001199142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001267574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001286478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_003752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017023814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA679705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC002544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC145285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK000739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK055366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK130531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK292155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK293264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK299421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK301183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK301233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK303790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL045958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY762099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC000533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC001571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC071705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC107692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC157842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC157849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BE780094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BF665714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM757468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BT007335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX648075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CA420261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH878380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN410678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC341554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U46025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U91326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001037808 ⟹ NP_001032897 | |||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTGTAGTTAGTCGGCGCTTCCCGGAAGTGACGCGAGGACCCGCCTTCTCTCTCGGCGTTTCCGhide sequence |
| RefSeq Acc Id: | NM_001199142 ⟹ NP_001186071 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTGGCAGGCAGCCCTGCACCGGACACACAGTGGCATTCAACTTCCTGCCTGCCAGCCCCAGTGThide sequence |
| RefSeq Acc Id: | NM_001267574 ⟹ NP_001254503 | |||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||
| Type: | CODING | |||||||||||||||||||
| Position: |
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| Sequence: |
AGTGTAGTTAGTCGGCGCTTCCCGGAAGTGACGCGAGGACCCGCCTTCTCTCTCGGCGTTTCCGhide sequence |
| RefSeq Acc Id: | NM_001286478 ⟹ NP_001273407 | ||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGTGTAGTTAGTCGGCGCTTCCCGGAAGTGACGCGAGGACCCGCCTTCTCTCTCGGCGTTTCCGhide sequence |
| RefSeq Acc Id: | NM_003752 ⟹ NP_003743 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTGTAGTTAGTCGGCGCTTCCCGGAAGTGACGCGAGGACCCGCCTTCTCTCTCGGCGTTTCCGhide sequence |
| RefSeq Acc Id: | XM_017023814 ⟹ XP_016879303 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTTCTCTCTCGGCGTTTCCGCTGTCAGGGCCCTGCGGTGTGACTCGCGGGCTCAGCTGGTCCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001032897 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001186071 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001254503 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001273407 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_003743 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016879303 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC27426 | (Get FASTA) | NCBI Sequence Viewer |
| AAC27674 | (Get FASTA) | NCBI Sequence Viewer | |
| AAD03462 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH00533 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH01571 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH71705 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI07693 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI57843 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI57850 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP35999 | (Get FASTA) | NCBI Sequence Viewer | |
| AAX07826 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA91352 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF84844 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG51506 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG56795 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG61402 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG62767 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG62805 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG64747 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG65308 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50492 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50493 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50494 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50495 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50496 | (Get FASTA) | NCBI Sequence Viewer | |
| Q99613 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001186071 ⟸ NM_001199142 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q99613 (UniProtKB/Swiss-Prot), A0A024QYU9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIhide sequence |
| RefSeq Acc Id: | NP_001032897 ⟸ NM_001037808 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q99613 (UniProtKB/Swiss-Prot), A0A024QYU9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIhide sequence |
| RefSeq Acc Id: | NP_003743 ⟸ NM_003752 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q99613 (UniProtKB/Swiss-Prot), A0A024QYU9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIhide sequence |
| RefSeq Acc Id: | NP_001254503 ⟸ NM_001267574 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q99613 (UniProtKB/Swiss-Prot), A0A024QYU9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIhide sequence |
| RefSeq Acc Id: | NP_001273407 ⟸ NM_001286478 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q99613 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIhide sequence |
| RefSeq Acc Id: | XP_016879303 ⟸ XM_017023814 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIhide sequence |
Promoters| RGD ID: | 6853176 | |||||||||
| Promoter ID: | EP74371 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HS_EIF3S8 | |||||||||
| Description: | Eukaryotic translation initiation factor 3, subunit 8, 110kDa. | |||||||||
| 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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| RGD ID: | 7231747 | |||||||||
| Promoter ID: | EPDNEW_H21619 | |||||||||
| Type: | initiation region | |||||||||
| Name: | EIF3C_1 | |||||||||
| Description: | eukaryotic translation initiation factor 3 subunit C | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|See cases [RCV000051829] | Chr16:21463739..29249579 [GRCh38] Chr16:21475060..29260900 [GRCh37] Chr16:21382561..29168401 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051842]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051842]|See cases [RCV000051842] | Chr16:21602183..29314373 [GRCh38] Chr16:21613504..29325694 [GRCh37] Chr16:21521005..29233195 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 | copy number gain | Global developmental delay [RCV000052401]|See cases [RCV000052401] | Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 | copy number loss | Obesity [RCV000052520]|See cases [RCV000052520] | Chr16:28456967..30295107 [GRCh38] Chr16:28468288..30306428 [GRCh37] Chr16:28375789..30213929 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3 | copy number gain | Global developmental delay [RCV000053118]|See cases [RCV000053118] | Chr16:28293803..29531653 [GRCh38] Chr16:28305124..29542974 [GRCh37] Chr16:28212625..29450475 [NCBI36] Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053119]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053119]|See cases [RCV000053119] | Chr16:28589904..29030797 [GRCh38] Chr16:28601225..29042118 [GRCh37] Chr16:28508726..28949619 [NCBI36] Chr16:16p11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3 | copy number gain | Abnormal facial shape [RCV000053120]|See cases [RCV000053120] | Chr16:28592408..29025786 [GRCh38] Chr16:28603729..29037107 [GRCh37] Chr16:28511230..28944608 [NCBI36] Chr16:16p11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053121]|Global developmental delay [RCV000053122]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053121]|See cases [RCV000053121] | Chr16:28599237..29025786 [GRCh38] Chr16:28610558..29037107 [GRCh37] Chr16:28518059..28944608 [NCBI36] Chr16:16p11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053490]|See cases [RCV000053490] | Chr16:28531783..29025786 [GRCh38] Chr16:28543104..29037107 [GRCh37] Chr16:28450605..28944608 [NCBI36] Chr16:16p11.2 |
pathogenic |
| GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3 | copy number gain | Global developmental delay [RCV000053491]|See cases [RCV000053491] | Chr16:28710478..29025786 [GRCh38] Chr16:28721799..29037107 [GRCh37] Chr16:28629300..28944608 [NCBI36] Chr16:16p11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1 | copy number loss | Global developmental delay [RCV000053492]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053493]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053493]|See cases [RCV000053492] | Chr16:28710478..29025786 [GRCh38] Chr16:28721799..29037107 [GRCh37] Chr16:28629300..28944608 [NCBI36] Chr16:16p11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054252]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054252]|See cases [RCV000054252] | Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 | copy number loss | Global developmental delay [RCV000054253]|See cases [RCV000054253] | Chr16:28531783..30183432 [GRCh38] Chr16:28543104..30194753 [GRCh37] Chr16:28450605..30102254 [NCBI36] Chr16:16p11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 | copy number gain | Global developmental delay [RCV000054346]|See cases [RCV000054346] | Chr16:28366111..30183432 [GRCh38] Chr16:28377432..30194753 [GRCh37] Chr16:28284933..30102254 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic|uncertain significance |
| NM_001199142.1(EIF3C):c.911T>G (p.Val304Gly) | single nucleotide variant | Malignant melanoma [RCV000063017] | Chr16:28723298 [GRCh38] Chr16:28734619 [GRCh37] Chr16:28642120 [NCBI36] Chr16:16p11.2 |
not provided |
| GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 | copy number gain | See cases [RCV000133809] | Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
| GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3 | copy number gain | See cases [RCV000134985] | Chr16:28584316..29019738 [GRCh38] Chr16:28595637..29031059 [GRCh37] Chr16:28503138..28938560 [NCBI36] Chr16:16p11.2 |
likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3 | copy number gain | See cases [RCV000135755] | Chr16:28492482..29320029 [GRCh38] Chr16:28503803..29331350 [GRCh37] Chr16:28411304..29238851 [NCBI36] Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1 | copy number loss | See cases [RCV000135759] | Chr16:28492482..29170875 [GRCh38] Chr16:28503803..29182196 [GRCh37] Chr16:28411304..29089697 [NCBI36] Chr16:16p12.1-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 | copy number gain | See cases [RCV000135765] | Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic|uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 | copy number gain | See cases [RCV000135594] | Chr16:22634385..29227323 [GRCh38] Chr16:22645706..29238644 [GRCh37] Chr16:22553207..29146145 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3 | copy number gain | See cases [RCV000137571] | Chr16:28487211..29202837 [GRCh38] Chr16:28498532..29214158 [GRCh37] Chr16:28406033..29121659 [NCBI36] Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 | copy number loss | See cases [RCV000137580] | Chr16:28392832..30186020 [GRCh38] Chr16:28404153..30197341 [GRCh37] Chr16:28311654..30104842 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1 | copy number loss | See cases [RCV000137599] | Chr16:28722418..29033455 [GRCh38] Chr16:28733739..29044776 [GRCh37] Chr16:28641240..28952277 [NCBI36] Chr16:16p11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 | copy number loss | See cases [RCV000137949] | Chr16:28392832..29342070 [GRCh38] Chr16:28404153..29353391 [GRCh37] Chr16:28311654..29260892 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1 | copy number loss | See cases [RCV000137848] | Chr16:28327346..29342070 [GRCh38] Chr16:28338667..29353391 [GRCh37] Chr16:28246168..29260892 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3 | copy number gain | See cases [RCV000139217] | Chr16:28392026..29170879 [GRCh38] Chr16:28403347..29182200 [GRCh37] Chr16:28310848..29089701 [NCBI36] Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 | copy number gain | See cases [RCV000140235] | Chr16:21350622..29202837 [GRCh38] Chr16:21361943..29214158 [GRCh37] Chr16:21269444..29121659 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 | copy number loss | See cases [RCV000139916] | Chr16:28392832..30320693 [GRCh38] Chr16:28404153..30332014 [GRCh37] Chr16:28311654..30239515 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 | copy number gain | See cases [RCV000140341] | Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1 | copy number loss | See cases [RCV000139466] | Chr16:28392832..29320029 [GRCh38] Chr16:28404153..29331350 [GRCh37] Chr16:28311654..29238851 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 | copy number gain | See cases [RCV000141141] | Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1 | copy number loss | See cases [RCV000140694] | Chr16:28392832..29170875 [GRCh38] Chr16:28404153..29182196 [GRCh37] Chr16:28311654..29089697 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3 | copy number gain | See cases [RCV000141716] | Chr16:28320366..29415078 [GRCh38] Chr16:28331687..29426399 [GRCh37] Chr16:28239188..29333900 [NCBI36] Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1 | copy number loss | See cases [RCV000141684] | Chr16:28696852..29039870 [GRCh38] Chr16:28708173..29051191 [GRCh37] Chr16:28615674..28958692 [NCBI36] Chr16:16p11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3 | copy number gain | See cases [RCV000142569] | Chr16:28492482..29170875 [GRCh38] Chr16:28503803..29182196 [GRCh37] Chr16:28411304..29089697 [NCBI36] Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1 | copy number loss | See cases [RCV000143300] | Chr16:28677764..29039870 [GRCh38] Chr16:28689085..29051191 [GRCh37] Chr16:28596586..28958692 [NCBI36] Chr16:16p11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 | copy number loss | See cases [RCV000148148] | Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 | copy number gain | See cases [RCV000148153] | Chr16:28589904..29030797 [GRCh38] Chr16:28601225..29042118 [GRCh37] Chr16:28508726..28949619 [NCBI36] Chr16:16p11.2 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1 | copy number loss | See cases [RCV000258804] | Chr16:28484556..29043450 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28631584-29095327)x3 | copy number gain | See cases [RCV000449070] | Chr16:28631584..29095327 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 | copy number gain | Ductal breast carcinoma [RCV000207226] | Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Ductal breast carcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1 | copy number loss | See cases [RCV000240493] | Chr16:28486693..29043960 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 | copy number gain | See cases [RCV000449403] | Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28689085-29043450)x3 | copy number gain | See cases [RCV000449370] | Chr16:28689085..29043450 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 | copy number loss | See cases [RCV000447001] | Chr16:28486693..30197290 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1 | copy number loss | See cases [RCV000447021] | Chr16:28486693..29048572 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| NC_000016.10:g.(?_28370872)_(29324276_?)del | deletion | Schizophrenia [RCV000416901] | Chr16:28370872..29324276 [GRCh38] Chr16:28382193..29335597 [GRCh37] Chr16:28289694..29243098 [NCBI36] Chr16:16p12.1-11.2 |
likely pathogenic |
| GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1 | copy number loss | See cases [RCV000510329] | Chr16:28384463..29343462 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1 | copy number loss | See cases [RCV000511533] | Chr16:28441538..30178406 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 | copy number gain | See cases [RCV000511587] | Chr16:22718350..28858721 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4 | copy number gain | See cases [RCV000511109] | Chr16:28371467..29426399 [GRCh37] Chr16:16p11.2 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1 | copy number loss | See cases [RCV000510933] | Chr16:28466730..29427247 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 | copy number loss | See cases [RCV000511271] | Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 | copy number gain | See cases [RCV000512428] | Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 | copy number gain | See cases [RCV000512478] | Chr16:21379628..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1 | copy number loss | not provided [RCV000683798] | Chr16:28389576..29438326 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28689085-29051191)x1 | copy number loss | not provided [RCV000683799] | Chr16:28689085..29051191 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 | copy number loss | not provided [RCV000683786] | Chr16:21379628..29379768 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3 | copy number gain | not provided [RCV000846620] | Chr16:28371467..29416001 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| Single allele | deletion | Schizophrenia [RCV000754181] | Chr16:28351819..29325073 [GRCh38] Chr16:16p12.1-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28607196-28762709)x1 | copy number loss | not provided [RCV000739108] | Chr16:28607196..28762709 [GRCh37] Chr16:16p11.2 |
benign |
| GRCh37/hg19 16p11.2(chr16:28613508-28719434)x1 | copy number loss | not provided [RCV000739110] | Chr16:28613508..28719434 [GRCh37] Chr16:16p11.2 |
benign |
| GRCh37/hg19 16p11.2(chr16:28652357-28723013)x1 | copy number loss | not provided [RCV000739112] | Chr16:28652357..28723013 [GRCh37] Chr16:16p11.2 |
benign |
| GRCh37/hg19 16p11.2(chr16:28529940-28906458) | copy number loss | Chromosome 16p11.2 deletion syndrome, 220 kb [RCV000767608] | Chr16:28529940..28906458 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28734571-29043450) | copy number loss | Chromosome 16p11.2 deletion syndrome, 220 kb [RCV000767609] | Chr16:28734571..29043450 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 | copy number loss | not provided [RCV000848428] | Chr16:28466730..30177916 [GRCh37] Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 | copy number loss | not provided [RCV000846340] | Chr16:28466730..30191848 [GRCh37] Chr16:16p11.2 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:3279 | AgrOrtholog |
| COSMIC | EIF3C | COSMIC |
| Ensembl Genes | ENSG00000184110 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000332604 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000378953 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000455277 | UniProtKB/TrEMBL | |
| ENSP00000455278 | UniProtKB/TrEMBL | |
| ENSP00000456416 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000457389 | UniProtKB/TrEMBL | |
| ENSP00000457418 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000457963 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000331666 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000395587 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000563139 | UniProtKB/TrEMBL | |
| ENST00000564243 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000566501 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000566866 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000568426 | UniProtKB/TrEMBL | |
| ENST00000569690 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000184110 | GTEx |
| HGNC ID | HGNC:3279 | ENTREZGENE |
| Human Proteome Map | EIF3C | Human Proteome Map |
| InterPro | EIF3C | UniProtKB/Swiss-Prot |
| EIF3C_N_dom | UniProtKB/Swiss-Prot | |
| PCI_dom | UniProtKB/Swiss-Prot | |
| WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot | |
| WH_DNA-bd_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:8663 | UniProtKB/Swiss-Prot |
| NCBI Gene | 8663 | ENTREZGENE |
| OMIM | 603916 | OMIM |
| PANTHER | PTHR13937 | UniProtKB/Swiss-Prot |
| Pfam | eIF-3c_N | UniProtKB/Swiss-Prot |
| PCI | UniProtKB/Swiss-Prot | |
| PharmGKB | PA162384646 | PharmGKB |
| PROSITE | PCI | UniProtKB/Swiss-Prot |
| SMART | PINT | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF46785 | UniProtKB/Swiss-Prot |
| UniGene | Hs.567374 | ENTREZGENE |
| UniProt | A0A024QYU9 | ENTREZGENE, UniProtKB/TrEMBL |
| A1KYQ7_HUMAN | UniProtKB/TrEMBL | |
| B3KNZ4_HUMAN | UniProtKB/TrEMBL | |
| B4DDN4_HUMAN | UniProtKB/TrEMBL | |
| B4DRU0_HUMAN | UniProtKB/TrEMBL | |
| B4DVQ5_HUMAN | UniProtKB/TrEMBL | |
| B4DVU3_HUMAN | UniProtKB/TrEMBL | |
| B4E2Z6_HUMAN | UniProtKB/TrEMBL | |
| EIF3C_HUMAN | UniProtKB/Swiss-Prot | |
| H3BPE3_HUMAN | UniProtKB/TrEMBL | |
| H3BPE4_HUMAN | UniProtKB/TrEMBL | |
| H3BTY8_HUMAN | UniProtKB/TrEMBL | |
| Q3B7B9_HUMAN | UniProtKB/TrEMBL | |
| Q99613 | ENTREZGENE | |
| UniProt Secondary | A8K7Z0 | UniProtKB/Swiss-Prot |
| B2RXG3 | UniProtKB/Swiss-Prot | |
| B4E1D5 | UniProtKB/Swiss-Prot | |
| E7EMC9 | UniProtKB/TrEMBL | |
| H3BRV0 | UniProtKB/Swiss-Prot | |
| O00215 | UniProtKB/Swiss-Prot | |
| Q9BW98 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-12-08 | EIF3C | eukaryotic translation initiation factor 3 subunit C | eukaryotic translation initiation factor 3, subunit C | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on EIF3C | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1318894 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
