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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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Reperfusion Injury | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16526316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 7748564 8661153 8755474 9195962 9245480 9267020 9530499 9576626 9751130 10207129 10366629 10531456 10601038 10730216 11128993 11256076 11416136 11870224 12477932 15107857 15489334 15777695 15901737 17400922 17474147 17631495 18385452 18563700 18628988 19036963 19270726 19668339 19695673 19836338 20029409 20228801 20379614 20505120 20659327 20889312 21873635 22072270 22074469 22623531 22860012 23242526 23401654 23419831 23812375 23959867 25300504 25663355 25993310 27354374 28514442 28611215 30561431 |
Comparative Map Data| EFNA5 (Homo sapiens - human) |
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| Efna5 (Mus musculus - house mouse) |
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| Efna5 (Rattus norvegicus - Norway rat) |
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| Efna5 (Chinchilla lanigera - long-tailed chinchilla) |
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| EFNA5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EFNA5 (Canis lupus familiaris - dog) |
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| Efna5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EFNA5 (Sus scrofa - pig) |
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| EFNA5 (Chlorocebus sabaeus - green monkey) |
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| Efna5 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D5S475 |
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| WI-18120 |
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| A006T32 |
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| RH16297 |
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| SHGC-82929 |
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| D5S1688E |
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| GDB:315565 |
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| SHGC-106401 |
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| SHGC-142233 |
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| SHGC-142620 |
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| SHGC-145540 |
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| RH78310 |
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| SHGC-173148 |
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| EFNA5_1540 |
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| SGC34450 |
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| RH12376 |
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| RH36350 |
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| WI-15986 |
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| D5S1443 |
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| STS-D29229 |
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| A004F05 |
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| D5S1890 |
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| EFNA5 |
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| EFNA5 |
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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 | uterine cervix | nose | pituitary gland | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | throat | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | ovary | uterus | vagina | mammalian vulva | adipose tissue | musculature | chordate pharynx | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | muscle of leg | muscle of arm | nasal septum | tongue | submandibular gland | skeletal muscle of trunk | temporal lobe | parietal lobe | caudate nucleus | putamen | forebrain | placenta | occipital lobe | hindbrain | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | left cardiac atrium | spleen | liver | small intestine | gall bladder | kidney | duodenum | tricuspid valve | mitral valve | pulmonary valve | locus ceruleus | spinal cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | bile duct | cartilage tissue | hippocampal formation | bone tissue | middle frontal gyrus | middle temporal gyrus | trachea | brain meninx | mouth mucosa | fallopian tube | left kidney | umbilical cord blood | venous blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 22 | 11 | 194 | 1 | 8 | 4 | 77 | 96 | 20 | 1 | 16 | 22 | 15 | 36 | 1 | 1 | 135 | 15 | 2 | 1 | 1 | 14 | 1 | 1 | 1 | 8 | 1 | 1 | 19 | 96 | 4 | 15 | 11 | 1 | 8 | 180 | 1 | 26 | 2 | 121 | 13 | 1 | 18 | 2 | 2 | 17 | 19 | 1 | 1 | 1 | 1 | 1 | |||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 1 | 18 | 1 | 1 | 6 | 105 | 8 | 54 | 385 | 68 | 9 | 11 | 43 | 9 | 69 | 2 | 44 | 31 | 1 | 1 | 3 | 2 | 1 | 18 | 1 | 1 | 2 | 1 | 1 | 29 | 2 | 18 | 15 | 1 | 1 | 1 | 4 | 1 | 1 | 1 | 2 | 5 | 4 | 2 | 1 | 1 | 35 | 120 | 1 | 1 | 77 | 2 | 1 | 123 | 1 | 1 | 1 | 15 | 5 | 1 | 2 | 1 | 6 | 18 | 23 | 1 | 1 | 24 | 1 | 4 | 1 | 1 | 1 | 1 | |||||||||||||||||||||||||||
| Below cutoff | 1 | 2 | 9 | 21 | 86 | 6 | 1 | 6 | 1 | 6 | 1 | 2 | 4 | 1 | 2 | 1 | 7 | 2 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 17 | 8 | 1 | 102 | 1 | 1 | 20 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 23 | 1 | 2 | 1 | 1 | 2 | 2 |
Nucleotide Sequences| RefSeq Transcripts | NM_001962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006714565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011543250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011543251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC008796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC008800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC008952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC010227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC011349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC024587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK025909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK308672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC075054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC075055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KC877063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U26403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000333274 ⟹ ENSP00000328777 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000504941 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000505499 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000509503 ⟹ ENSP00000426989 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000510359 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000611503 ⟹ ENSP00000484681 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001962 ⟹ NP_001953 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCTTCTCTCCATCTTGTGATTCCTTTTTCCTCCTGAACCCTCCAGTGGGGGTGCGAGTTTGTCThide sequence |
| RefSeq Acc Id: | XM_006714565 ⟹ XP_006714628 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATCTTGTGATTCCTTTTTCCTCCTGAACCCTCCAGTGGGGGTGCGAGTTTGTCTTTATCACCCChide sequence |
| RefSeq Acc Id: | XM_011543250 ⟹ XP_011541552 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGGCACCCAGAGCGAGCGAAGGCTGTGAGGACTGCCAGCACGCCGTCATCTCTCAACATCATAhide sequence |
| RefSeq Acc Id: | XM_011543251 ⟹ XP_011541553 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGCCTTTTTAATGGGTAAACAATTTAGTAATAAAAAATATTAATGGTTATGAAGATAATAATTThide sequence |
| RefSeq Acc Id: | XM_017009205 ⟹ XP_016864694 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTCCTGAGCTCAAGCGGTCCTCCTTCCTTGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCChide sequence |
Protein Sequences| Protein RefSeqs | NP_001953 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006714628 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011541552 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011541553 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016864694 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAB60377 | (Get FASTA) | NCBI Sequence Viewer |
| AAH75054 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH75055 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW49063 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW49064 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW49065 | (Get FASTA) | NCBI Sequence Viewer | |
| P52803 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001953 ⟸ NM_001962 |
| - Peptide Label: | precursor |
| - UniProtKB: | P52803 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLHVEMLTLVFLVLWMCVFSQDPGSKAVADRYAVYWNSSNPRFQRGDYHIDVCINDYLDVFCPHhide sequence |
| RefSeq Acc Id: | XP_006714628 ⟸ XM_006714565 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | D6RDV5 (UniProtKB/TrEMBL) |
| - Sequence: |
MLHVEMLTLVFLVLWMCVFSQDPGSKAVADRYAVYWNSSNPRFQRGDYHIDVCINDYLDVFCPHhide sequence |
| RefSeq Acc Id: | XP_011541553 ⟸ XM_011543251 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MVNFDGYSACDHTSKGFKRWECNRPHSPNGPLKFSEKFQLFTPFSLGFEFRPGREYFYISSAIPhide sequence |
| RefSeq Acc Id: | XP_011541552 ⟸ XM_011543250 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MQTLEPACFRFSLHTNTNKQCTLGFQRGDYHIDVCINDYLDVFCPHYEDSVPEDKTERYVLYMVhide sequence |
| RefSeq Acc Id: | XP_016864694 ⟸ XM_017009205 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MVNFDGYSACDHTSKGFKRWECNRPHSPNGPLKFSEKFQLFTPFSLGFEFRPGREYFYISSAIPhide sequence |
| RefSeq Acc Id: | ENSP00000328777 ⟸ ENST00000333274 |
| RefSeq Acc Id: | ENSP00000484681 ⟸ ENST00000611503 |
| RefSeq Acc Id: | ENSP00000426989 ⟸ ENST00000509503 |
Promoters| RGD ID: | 6803023 | |||||||||
| Promoter ID: | HG_KWN:50782 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, Lymphoblastoid | |||||||||
| Transcripts: | NM_001962, UC010JBR.1 | |||||||||
| Position: |
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| RGD ID: | 6870210 | |||||||||
| Promoter ID: | EPDNEW_H8270 | |||||||||
| Type: | initiation region | |||||||||
| Name: | EFNA5_1 | |||||||||
| Description: | ephrin A5 | |||||||||
| 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 5q13.3-22.1(chr5:74163186-110809453)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051839]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051839]|See cases [RCV000051839] | Chr5:74163186..110809453 [GRCh38] Chr5:73459011..110145153 [GRCh37] Chr5:73494767..110173052 [NCBI36] Chr5:5q13.3-22.1 |
pathogenic |
| GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3 | copy number gain | Intellectual functioning disability [RCV000051841]|See cases [RCV000051841] | Chr5:96454445..114050905 [GRCh38] Chr5:95790149..113386602 [GRCh37] Chr5:95815905..113414501 [NCBI36] Chr5:5q15-22.3 |
pathogenic |
| GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053523]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053523]|See cases [RCV000053523] | Chr5:102373396..113594030 [GRCh38] Chr5:101709100..112929727 [GRCh37] Chr5:101736999..112957626 [NCBI36] Chr5:5q21.1-22.2 |
pathogenic |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 | copy number loss | Mastocytosis [RCV000053524]|See cases [RCV000053524] | Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
| GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1 | copy number loss | See cases [RCV000135699] | Chr5:107002209..118025316 [GRCh38] Chr5:106337910..117361011 [GRCh37] Chr5:106365809..117388910 [NCBI36] Chr5:5q21.3-23.1 |
pathogenic |
| GRCh38/hg38 5q21.3-22.1(chr5:106547519-110687501)x3 | copy number gain | See cases [RCV000138127] | Chr5:106547519..110687501 [GRCh38] Chr5:105883220..110023202 [GRCh37] Chr5:105911119..110051101 [NCBI36] Chr5:5q21.3-22.1 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 | copy number loss | See cases [RCV000139893] | Chr5:90374606..128076423 [GRCh38] Chr5:89670423..127412115 [GRCh37] Chr5:89706179..127440014 [NCBI36] Chr5:5q14.3-23.3 |
pathogenic |
| GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 | copy number loss | See cases [RCV000139656] | Chr5:84603580..111435081 [GRCh38] Chr5:83899398..110770779 [GRCh37] Chr5:83935154..110798678 [NCBI36] Chr5:5q14.3-22.1 |
pathogenic |
| GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 | copy number loss | See cases [RCV000141252] | Chr5:92899734..119614119 [GRCh38] Chr5:92235441..118949814 [GRCh37] Chr5:92261197..118977713 [NCBI36] Chr5:5q14.3-23.1 |
pathogenic |
| GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1 | copy number loss | See cases [RCV000142171] | Chr5:106586078..113006585 [GRCh38] Chr5:105921779..112342282 [GRCh37] Chr5:105949678..112370181 [NCBI36] Chr5:5q21.3-22.2 |
pathogenic |
| GRCh38/hg38 5q21.3(chr5:106619588-109258642)x3 | copy number gain | See cases [RCV000142807] | Chr5:106619588..109258642 [GRCh38] Chr5:105955289..108594343 [GRCh37] Chr5:105983188..108622242 [NCBI36] Chr5:5q21.3 |
likely pathogenic |
| GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 | copy number loss | See cases [RCV000143249] | Chr5:93193104..113287795 [GRCh38] Chr5:92528810..112623492 [GRCh37] Chr5:92554566..112651391 [NCBI36] Chr5:5q15-22.2 |
pathogenic |
| GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 | copy number loss | See cases [RCV000143746] | Chr5:91411708..131319563 [GRCh38] Chr5:90707525..130655256 [GRCh37] Chr5:90743281..130683155 [NCBI36] Chr5:5q14.3-31.1 |
pathogenic |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 | copy number gain | not provided [RCV000487658] | Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
| GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1 | copy number loss | See cases [RCV000445968] | Chr5:100607918..125900735 [GRCh37] Chr5:5q21.1-23.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 | copy number gain | See cases [RCV000448245] | Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
| GRCh37/hg19 5q21.3(chr5:105708752-108378522)x1 | copy number loss | See cases [RCV000510495] | Chr5:105708752..108378522 [GRCh37] Chr5:5q21.3 |
uncertain significance |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| NC_000005.9:g.(?_86400000)_(154000000_?)del | deletion | Hereditary cancer-predisposing syndrome [RCV000554476] | Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
| GRCh37/hg19 5q21.3(chr5:106265124-107656892)x1 | copy number loss | not provided [RCV000682588] | Chr5:106265124..107656892 [GRCh37] Chr5:5q21.3 |
likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 | copy number gain | not provided [RCV000849289] | Chr5:89949118..129317455 [GRCh37] Chr5:5q14.3-23.3 |
pathogenic |
| Single allele | deletion | Neurodevelopmental disorder [RCV000787436] | Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
| GRCh37/hg19 5q21.3(chr5:105738092-108214791)x3 | copy number gain | not provided [RCV000846494] | Chr5:105738092..108214791 [GRCh37] Chr5:5q21.3 |
uncertain significance |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:3225 | AgrOrtholog |
| COSMIC | EFNA5 | COSMIC |
| Ensembl Genes | ENSG00000184349 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000328777 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000426989 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000484681 | ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000333274 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000509503 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000611503 | ENTREZGENE, UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.40.420 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000184349 | GTEx |
| HGNC ID | HGNC:3225 | ENTREZGENE |
| Human Proteome Map | EFNA5 | Human Proteome Map |
| InterPro | Cupredoxin | UniProtKB/Swiss-Prot |
| Ephrin | UniProtKB/Swiss-Prot | |
| Ephrin-A_Ecto | UniProtKB/Swiss-Prot | |
| Ephrin_CS | UniProtKB/Swiss-Prot | |
| Ephrin_RBD | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:1946 | UniProtKB/Swiss-Prot |
| NCBI Gene | 1946 | ENTREZGENE |
| OMIM | 601535 | OMIM |
| PANTHER | PTHR11304 | UniProtKB/Swiss-Prot |
| Pfam | Ephrin | UniProtKB/Swiss-Prot |
| PharmGKB | PA27660 | PharmGKB |
| PRINTS | EPHRIN | UniProtKB/Swiss-Prot |
| PROSITE | EPHRIN_RBD_1 | UniProtKB/Swiss-Prot |
| EPHRIN_RBD_2 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF49503 | UniProtKB/Swiss-Prot |
| UniGene | Hs.288741 | ENTREZGENE |
| UniProt | A0A087X240_HUMAN | UniProtKB/TrEMBL |
| D6RDV5 | ENTREZGENE, UniProtKB/TrEMBL | |
| EFNA5_HUMAN | UniProtKB/Swiss-Prot | |
| L8E7B5_HUMAN | UniProtKB/TrEMBL | |
| L8E8V0_HUMAN | UniProtKB/TrEMBL | |
| P52803 | ENTREZGENE |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-04-12 | EFNA5 | ephrin A5 | ephrin-A5 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-17 | EFNA5 | ephrin-A5 | EFNA5 | ephrin-A5 | Symbol and/or name change | 5135510 | APPROVED |
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| More on EFNA5 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1350398 |
| 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.
