 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
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Analyze GeneStrainQTL List |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology 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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References - curated| 1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 2. | RGD automated import pipeline for gene-chemical interactions |
| 3. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
References - uncurated| PubMed | 8125298 12601556 14702039 17260017 19252134 20379614 20460425 21698141 21873635 23434934 24366813 26909942 28514442 28611215 |
Genomics
Comparative Map Data| FRMD3 (Homo sapiens - human) |
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| Frmd3 (Mus musculus - house mouse) |
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| Frmd3 (Rattus norvegicus - Norway rat) |
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| Frmd3 (Chinchilla lanigera - long-tailed chinchilla) |
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| FRMD3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| FRMD3 (Canis lupus familiaris - dog) |
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| Frmd3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| FRMD3 (Sus scrofa - pig) |
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Position Markers| D9S152 |
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| RH68275 |
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| RH92879 |
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| SHGC-80898 |
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| SHGC-111546 |
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| SHGC-156240 |
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| D9S2153 |
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| FRMD3__6754 |
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| D9S2150 |
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| D9S1733 |
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| D9S152 |
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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_001244959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001244960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001244961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001244962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001375487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_174938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK094281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK223597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL137847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL161786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL353641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL354920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL450026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY137774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC023560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC037253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC041376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM873990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX647549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF560742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001244959 ⟹ NP_001231888 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGAGGCGAGCGAACAGAGGGAGGGACCCGCCCGCCGCGCCCCGGCCGCTGGGCATGTGTGTCCGhide sequence |
| RefSeq Acc Id: | NM_001244960 ⟹ NP_001231889 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGCCCTAGAGCTCCCAGAGACAGAAGACGAGATGGCAGTATTTTAAGGCACTAGCAGATCACGGhide sequence |
| RefSeq Acc Id: | NM_001244961 ⟹ NP_001231890 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCTTCATTTCGGAAGTGATTCATAGCACTTCTGCTTACAACTCTCTGATCAGGACTCATCCCAAhide sequence |
| RefSeq Acc Id: | NM_001244962 ⟹ NP_001231891 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
TGAGTTATTTCTGTTGGCCGCATTAGGAACCTGACATTTGATTCATTCAGTGGGTCCTGCCTAGhide sequence |
| RefSeq Acc Id: | NM_174938 ⟹ NP_777598 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGAGGCGAGCGAACAGAGGGAGGGACCCGCCCGCCGCGCCCCGGCCGCTGGGCATGTGTGTCCGhide sequence |
| RefSeq Acc Id: | XM_017014588 ⟹ XP_016870077 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGTTCTACTGGGAGATGCTGCAAACTCGCACTGCCAAGAGGGAAACCAAAGGGCAGTTTCTCAhide sequence |
| RefSeq Acc Id: | XM_017014589 ⟹ XP_016870078 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTTATGCCCTGTGTGATGGTTACACTCTACATGGGCTGCTGGGAATCAAATGAAGTGTGTGTAGhide sequence |
| RefSeq Acc Id: | XM_017014591 ⟹ XP_016870080 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGATCCCTCATGAGTTATTTCTGTTGGCCGCATTAGGAACCTGACATTTGATTCATTCAGTGGhide sequence |
| RefSeq Acc Id: | XM_024447487 ⟹ XP_024303255 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACATTTGTGTGCATGTATCAGAAAACCAAAAAATAACAATAGCTTAGATAAGTTGGAAGTTTAThide sequence |
| RefSeq Acc Id: | XM_024447488 ⟹ XP_024303256 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TATATATGTATTATATATATTCTAGTTCTTTGGTGAAATTGTCACCCATTTTCTTAAACATGTThide sequence |
| RefSeq Acc Id: | XM_024447489 ⟹ XP_024303257 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTTGATTAGGACTAAACCCCTCGTTCTAGTTCATTATCGAAATTGGGTTTCATTCCTGCTAATAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001231888 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001231889 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001231890 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001231891 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001362416 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_777598 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870077 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870078 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870080 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303255 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303256 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303257 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | A2A2Y4 | (Get FASTA) | NCBI Sequence Viewer |
| AAH23560 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH37253 | (Get FASTA) | NCBI Sequence Viewer | |
| AAN52119 | (Get FASTA) | NCBI Sequence Viewer | |
| ABQ59052 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC04321 | (Get FASTA) | NCBI Sequence Viewer | |
| BAD97317 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG60076 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62647 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62648 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62649 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62650 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62651 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_777598 ⟸ NM_174938 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | A2A2Y4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYhide sequence |
| RefSeq Acc Id: | NP_001231888 ⟸ NM_001244959 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | A2A2Y4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYhide sequence |
| RefSeq Acc Id: | NP_001231890 ⟸ NM_001244961 |
| - Peptide Label: | isoform 4 |
| - UniProtKB: | A2A2Y4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MVFRRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWhide sequence |
| RefSeq Acc Id: | NP_001231891 ⟸ NM_001244962 |
| - Peptide Label: | isoform 5 |
| - UniProtKB: | A2A2Y4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQAEETKGIGITSMAKCLVKIQTRRSLQLHMVNHCNSNVFVRLLRLGSKVTARNTGVPLPKEENhide sequence |
| RefSeq Acc Id: | NP_001231889 ⟸ NM_001244960 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | A2A2Y4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQLSKRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRhide sequence |
| RefSeq Acc Id: | XP_016870077 ⟸ XM_017014588 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLQTRTAKRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMhide sequence |
| RefSeq Acc Id: | XP_016870078 ⟸ XM_017014589 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MVFRRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWhide sequence |
| RefSeq Acc Id: | XP_016870080 ⟸ XM_017014591 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MQAEETKGIGITSMAKCLVKIQTRRSLQLHMVNHCNSNVFVRLLRLGSKVTARNTGVPLPKEENhide sequence |
| RefSeq Acc Id: | XP_024303255 ⟸ XM_024447487 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELhide sequence |
| RefSeq Acc Id: | XP_024303257 ⟸ XM_024447489 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELhide sequence |
| RefSeq Acc Id: | XP_024303256 ⟸ XM_024447488 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELhide sequence |
Promoters| RGD ID: | 7215311 | |||||||||
| Promoter ID: | EPDNEW_H13402 | |||||||||
| Type: | initiation region | |||||||||
| Name: | FRMD3_2 | |||||||||
| Description: | FERM domain containing 3 | |||||||||
| 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: | 7215313 | |||||||||
| Promoter ID: | EPDNEW_H13403 | |||||||||
| Type: | initiation region | |||||||||
| Name: | FRMD3_1 | |||||||||
| Description: | FERM domain containing 3 | |||||||||
| 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: | 7215315 | |||||||||
| Promoter ID: | EPDNEW_H13404 | |||||||||
| Type: | initiation region | |||||||||
| Name: | FRMD3_4 | |||||||||
| Description: | FERM domain containing 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6807717 | |||||||||
| Promoter ID: | HG_KWN:63821 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3 | |||||||||
| Transcripts: | ENST00000376422, ENST00000376427, ENST00000376438, ENST00000406518 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_174938.5(FRMD3):c.1540A>C (p.Ile514Leu) | single nucleotide variant | Malignant melanoma [RCV000068722] | Chr9:83248172 [GRCh38] Chr9:85863087 [GRCh37] Chr9:85052907 [NCBI36] Chr9:9q21.32 |
not provided |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
| GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 | copy number loss | See cases [RCV000137963] | Chr9:68499530..83670227 [GRCh38] Chr9:71130848..86285142 [GRCh37] Chr9:70304266..85474962 [NCBI36] Chr9:9q21.11-21.32 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | copy number gain | See cases [RCV000512280] | Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) | copy number gain | not provided [RCV000767645] | Chr9:79520825..97201274 [GRCh37] Chr9:9q21.2-22.32 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:24125 | AgrOrtholog |
| COSMIC | FRMD3 | COSMIC |
| Ensembl Genes | ENSG00000172159 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000303508 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000328615 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000365617 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000365621 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000412719 | UniProtKB/TrEMBL | |
| ENSP00000484839 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000304195 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000328788 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000376434 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000376438 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000431299 | UniProtKB/TrEMBL | |
| ENST00000621208 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.20.80.10 | UniProtKB/Swiss-Prot |
| 2.30.29.30 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000172159 | GTEx |
| HGNC ID | HGNC:24125 | ENTREZGENE |
| Human Proteome Map | FRMD3 | Human Proteome Map |
| InterPro | Band_41_domain | UniProtKB/Swiss-Prot |
| Ez/rad/moesin-like | UniProtKB/Swiss-Prot | |
| FERM-adjacent | UniProtKB/Swiss-Prot | |
| FERM/acyl-CoA-bd_prot_sf | UniProtKB/Swiss-Prot | |
| FERM_2 | UniProtKB/Swiss-Prot | |
| FERM_central | UniProtKB/Swiss-Prot | |
| FERM_CS | UniProtKB/Swiss-Prot | |
| FERM_domain | UniProtKB/Swiss-Prot | |
| FERM_N | UniProtKB/Swiss-Prot | |
| FERM_PH-like_C | UniProtKB/Swiss-Prot | |
| PH-like_dom_sf | UniProtKB/Swiss-Prot | |
| Ubiquitin-like_domsf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:257019 | UniProtKB/Swiss-Prot |
| NCBI Gene | 257019 | ENTREZGENE |
| OMIM | 607619 | OMIM |
| Pfam | FERM_C | UniProtKB/Swiss-Prot |
| FERM_M | UniProtKB/Swiss-Prot | |
| FERM_N | UniProtKB/Swiss-Prot | |
| PF08736 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA134903920 | PharmGKB |
| PRINTS | BAND41 | UniProtKB/Swiss-Prot |
| ERMFAMILY | UniProtKB/Swiss-Prot | |
| PROSITE | FERM_1 | UniProtKB/Swiss-Prot |
| FERM_3 | UniProtKB/Swiss-Prot | |
| SMART | B41 | UniProtKB/Swiss-Prot |
| FERM_C | UniProtKB/Swiss-Prot | |
| SM01195 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF47031 | UniProtKB/Swiss-Prot |
| SSF54236 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.127535 | ENTREZGENE |
| Hs.743606 | ENTREZGENE | |
| UniProt | A2A2Y4 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Q5JV61_HUMAN | UniProtKB/TrEMBL | |
| UniProt Secondary | A8MQB0 | UniProtKB/Swiss-Prot |
| B4DN14 | UniProtKB/Swiss-Prot | |
| Q53EP2 | UniProtKB/Swiss-Prot | |
| Q5JV59 | UniProtKB/Swiss-Prot | |
| Q5VZA1 | UniProtKB/Swiss-Prot | |
| Q86WP8 | UniProtKB/Swiss-Prot | |
| Q8IZ44 | UniProtKB/Swiss-Prot | |
| Q8N3Y5 | UniProtKB/Swiss-Prot | |
| Q8N9L2 | UniProtKB/Swiss-Prot |
 |
| More on FRMD3 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1312459 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
