 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Analyze GeneStrainQTL List |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
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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 |
References - uncurated| PubMed | 8619474 8889548 9110174 10591208 12477932 12975309 15028294 15489334 18275939 20379614 22158540 24322204 28611215 |
Genomics
Comparative Map Data| TAFA5 (Homo sapiens - human) |
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| Tafa5 (Mus musculus - house mouse) |
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| Tafa5 (Rattus norvegicus - Norway rat) |
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| Tafa5 (Chinchilla lanigera - long-tailed chinchilla) |
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| TAFA5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TAFA5 (Canis lupus familiaris - dog) |
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| Tafa5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TAFA5 (Sus scrofa - pig) |
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Position Markers| D22S1161 |
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| RH103084 |
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| G62544 |
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| G63572 |
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| stD22S34 |
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| AL022479 |
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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
RNA-SEQ ExpressionHigh: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM
| uterine cervix | nose | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | ovary | uterus | adipose tissue | musculature | 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 | skeletal muscle of trunk | temporal lobe | parietal lobe | caudate nucleus | globus pallidus | amygdala | forebrain | diencephalon | medulla oblongata | placenta | occipital lobe | hindbrain | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | locus ceruleus | spinal cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | hippocampal formation | bone tissue | middle frontal gyrus | middle temporal gyrus | brain meninx | mouth mucosa | fallopian tube | left kidney | dorsal thalamus | umbilical cord blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 1 | 8 | 187 | 2 | 15 | 17 | 1 | 14 | 7 | 55 | 1 | 45 | 10 | 3 | 5 | 1 | 1 | 2 | 52 | 1 | 1 | 1 | 20 | 11 | 1 | 2 | 81 | 30 | 22 | 1 | 9 | 1 | 1 | 23 | 1 | 1 | 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 14 | 1 | 5 | 44 | 3 | 49 | 1 | 63 | 89 | 2 | 13 | 30 | 14 | 18 | 1 | 2 | 77 | 29 | 3 | 6 | 1 | 1 | 1 | 1 | 1 | 6 | 1 | 1 | 19 | 25 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 1 | 44 | 109 | 126 | 2 | 1 | 172 | 1 | 1 | 2 | 14 | 4 | 2 | 1 | 1 | 5 | 1 | 8 | 1 | 35 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | ||||||||||||||||||||||||
| Below cutoff | 8 | 2 | 25 | 3 | 9 | 112 | 15 | 4 | 7 | 10 | 10 | 18 | 8 | 1 | 1 | 4 | 1 | 9 | 9 | 2 | 2 | 1 | 1 | 1 | 1 | 1 | 6 | 29 | 2 | 50 | 1 | 43 | 1 | 1 | 1 | 2 | 9 | 3 | 1 | 1 | 7 | 2 |
View RNA-SEQ Expression Data
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001082967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_015381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF131851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK123443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK125256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL096843 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL096853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL954745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY325118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY358847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC039396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU739734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX927063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR391954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR450365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR456636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB481230 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB541899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| Z83837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| Z84468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000336769 ⟹ ENSP00000336812 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000358295 ⟹ ENSP00000351043 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000402357 ⟹ ENSP00000383933 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000406880 ⟹ ENSP00000385603 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000473898 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001082967 ⟹ NP_001076436 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGGCCCGGGCGCGGCGGCGGCGGCGGCGGAGGATGGCGCGCGCGGGGCCCGCACGTGGAGGCCGhide sequence |
| RefSeq Acc Id: | NM_015381 ⟹ NP_056196 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AAAGACACAAATCGCCTCCCGGAGTGGCGCCTCCAGTCGCGGCGGAGCGCGGCGTTGGCGGCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001076436 | (Get FASTA) | NCBI Sequence Viewer |
| NP_056196 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD20061 | (Get FASTA) | NCBI Sequence Viewer |
| AAH39396 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP92410 | (Get FASTA) | NCBI Sequence Viewer | |
| AAQ89206 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG53905 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG54175 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW73462 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW73463 | (Get FASTA) | NCBI Sequence Viewer | |
| Q7Z5A7 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001076436 ⟸ NM_001082967 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | Q7Z5A7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAPSPRTGSRQDATALPSMSSTFWAFMILASLLIAYCSQLAAGTCEIVTLDRDSSQPRRTIARQhide sequence |
| RefSeq Acc Id: | NP_056196 ⟸ NM_015381 |
| - Peptide Label: | isoform 2 precursor |
| - UniProtKB: | Q7Z5A7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQLLKALWALAGAALCCFLVLVIHAQFLKEGQLAAGTCEIVTLDRDSSQPRRTIARQTARCACRhide sequence |
| RefSeq Acc Id: | ENSP00000336812 ⟸ ENST00000336769 |
| RefSeq Acc Id: | ENSP00000383933 ⟸ ENST00000402357 |
| RefSeq Acc Id: | ENSP00000385603 ⟸ ENST00000406880 |
| RefSeq Acc Id: | ENSP00000351043 ⟸ ENST00000358295 |
Promoters| RGD ID: | 13604478 | |||||||||
| Promoter ID: | EPDNEW_H28423 | |||||||||
| Type: | initiation region | |||||||||
| Name: | FAM19A5_1 | |||||||||
| Description: | family with sequence similarity 19 member A5, C-C motif chemokinelike | |||||||||
| 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 22q13.31-13.33(chr22:45239376-50739836)x1 | copy number loss | Global developmental delay [RCV000050935]|See cases [RCV000050935] | Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050848]|Global developmental delay [RCV000050849]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050848]|See cases [RCV000050848] | Chr22:47705262..50739836 [GRCh38] Chr22:48101011..51178264 [GRCh37] Chr22:46479675..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] | Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 | copy number loss | Macrocephaly [RCV000051371]|See cases [RCV000051371] | Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 | copy number loss | Global developmental delay [RCV000051407]|See cases [RCV000051407] | Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 | copy number loss | Global developmental delay [RCV000051408]|See cases [RCV000051408] | Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 | copy number loss | Gait disturbance [RCV000051409]|See cases [RCV000051409] | Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051410]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051410]|See cases [RCV000051410] | Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 | copy number loss | Global developmental delay [RCV000051411]|See cases [RCV000051411] | Chr22:45648256..50739836 [GRCh38] Chr22:46044136..51178264 [GRCh37] Chr22:44422800..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 | copy number loss | Global developmental delay [RCV000051412]|See cases [RCV000051412] | Chr22:47122613..50739836 [GRCh38] Chr22:47518509..51178264 [GRCh37] Chr22:45897173..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051413]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051413]|See cases [RCV000051413] | Chr22:47234701..50739836 [GRCh38] Chr22:47630451..51178264 [GRCh37] Chr22:46009115..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051440]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051440]|See cases [RCV000051440] | Chr22:48138038..50739836 [GRCh38] Chr22:48533855..51178264 [GRCh37] Chr22:46912519..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] | Chr22:48423668..50739836 [GRCh38] Chr22:48819480..51178264 [GRCh37] Chr22:47198144..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051442]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051442]|See cases [RCV000051442] | Chr22:48654672..50739836 [GRCh38] Chr22:49050484..51178264 [GRCh37] Chr22:47436920..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 | copy number loss | Failure to thrive [RCV000051098]|See cases [RCV000051098] | Chr22:46065705..50739836 [GRCh38] Chr22:46461585..51178264 [GRCh37] Chr22:44840249..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 | copy number gain | Global developmental delay [RCV000051684]|See cases [RCV000051684] | Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 | copy number gain | Intrauterine growth retardation [RCV000051686]|See cases [RCV000051686] | Chr22:42599757..50725241 [GRCh38] Chr22:42995763..51163669 [GRCh37] Chr22:41325707..49510535 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051687]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051687]|See cases [RCV000051687] | Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] | Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 | copy number gain | Global developmental delay [RCV000051689]|See cases [RCV000051689] | Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 | copy number gain | Failure to thrive [RCV000051682]|See cases [RCV000051682] | Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
| NM_001082967.2(FAM19A5):c.112+65046A>G | single nucleotide variant | Lung cancer [RCV000102102] | Chr22:48554750 [GRCh38] Chr22:48950562 [GRCh37] Chr22:22q13.32 |
uncertain significance |
| NM_001082967.2(FAM19A5):c.112+78151C>G | single nucleotide variant | Lung cancer [RCV000102103] | Chr22:48567855 [GRCh38] Chr22:48963667 [GRCh37] Chr22:22q13.32 |
uncertain significance |
| NM_001082967.2(FAM19A5):c.199C>T (p.Arg67Cys) | single nucleotide variant | Malignant melanoma [RCV000073005] | Chr22:48646683 [GRCh38] Chr22:49042495 [GRCh37] Chr22:47428931 [NCBI36] Chr22:22q13.32 |
not provided |
| NM_001082967.2(FAM19A5):c.113-34368A>G | single nucleotide variant | Lung cancer [RCV000102104] | Chr22:48612229 [GRCh38] Chr22:49008041 [GRCh37] Chr22:22q13.32 |
uncertain significance |
| NM_001082967.2(FAM19A5):c.390+15481C>G | single nucleotide variant | Lung cancer [RCV000102105] | Chr22:48723325 [GRCh38] Chr22:49119137 [GRCh37] Chr22:22q13.32 |
uncertain significance |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 | copy number loss | See cases [RCV000133865] | Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 | copy number gain | See cases [RCV000134513] | Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 | copy number loss | See cases [RCV000135444] | Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 | copy number loss | See cases [RCV000135615] | Chr22:46919818..50739836 [GRCh38] Chr22:47315714..51178264 [GRCh37] Chr22:45694378..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 | copy number gain | See cases [RCV000136573] | Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 | copy number gain | See cases [RCV000136124] | Chr22:43992879..50683114 [GRCh38] Chr22:44388759..51121542 [GRCh37] Chr22:42720092..49468408 [NCBI36] Chr22:22q13.31-13.33 |
benign |
| GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 | copy number loss | See cases [RCV000136921] | Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 | copy number loss | See cases [RCV000136941] | Chr22:48614336..50739836 [GRCh38] Chr22:49010148..51178264 [GRCh37] Chr22:47396711..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 | copy number gain | See cases [RCV000137136] | Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 | copy number loss | See cases [RCV000136894] | Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 | copy number loss | See cases [RCV000136786] | Chr22:42493445..50268479 [GRCh38] Chr22:42889451..50706908 [GRCh37] Chr22:41219395..49049035 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 | copy number loss | See cases [RCV000137377] | Chr22:48500344..50780581 [GRCh38] Chr22:48896156..51203353 [GRCh37] Chr22:47274820..49565875 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32(chr22:48500344-49037170)x3 | copy number gain | See cases [RCV000139925] | Chr22:48500344..49037170 [GRCh38] Chr22:48896156..49432982 [GRCh37] Chr22:47274820..47818986 [NCBI36] Chr22:22q13.32 |
uncertain significance |
| GRCh38/hg38 22q13.32(chr22:48500344-48654672)x3 | copy number gain | See cases [RCV000139837] | Chr22:48500344..48654672 [GRCh38] Chr22:48896156..49050484 [GRCh37] Chr22:47274820..47436920 [NCBI36] Chr22:22q13.32 |
uncertain significance |
| GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 | copy number loss | See cases [RCV000141415] | Chr22:42837094..50735806 [GRCh38] Chr22:43233100..51174234 [GRCh37] Chr22:41563044..49521100 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 | copy number loss | See cases [RCV000140901] | Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 | copy number loss | See cases [RCV000140772] | Chr22:46732445..50780522 [GRCh38] Chr22:47128342..51218950 [GRCh37] Chr22:45507006..49565816 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 | copy number gain | See cases [RCV000141659] | Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 | copy number gain | See cases [RCV000142755] | Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 | copy number loss | See cases [RCV000142589] | Chr22:48241375..50739836 [GRCh38] Chr22:48637187..51178264 [GRCh37] Chr22:47015851..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48271979-49315577)x3 | copy number gain | See cases [RCV000143316] | Chr22:48271979..49315577 [GRCh38] Chr22:48667791..49711502 [GRCh37] Chr22:47046455..48097506 [NCBI36] Chr22:22q13.32-13.33 |
uncertain significance |
| GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 | copy number loss | See cases [RCV000143487] | Chr22:46361165..50759299 [GRCh38] Chr22:46757062..51197727 [GRCh37] Chr22:45135726..49544593 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) | copy number loss | not provided [RCV000767746] | Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| Single allele | deletion | Autism spectrum disorder [RCV000208741]|Autism spectrum disorders [RCV000208741] | Chr22:49033233..51193680 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 | copy number loss | See cases [RCV000239941] | Chr22:46316673..50357320 [GRCh37] Chr22:22q13.31-13.33 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 | copy number gain | See cases [RCV000240469] | Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33 |
pathogenic |
| GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 | copy number gain | See cases [RCV000240459] | Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 | copy number loss | See cases [RCV000449140] | Chr22:47247169..51176099 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32(chr22:48515897-49033283)x3 | copy number gain | See cases [RCV000446868] | Chr22:48515897..49033283 [GRCh37] Chr22:22q13.32 |
likely benign |
| GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 | copy number loss | See cases [RCV000446928] | Chr22:47187586..51237463 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.32(chr22:47465162-49147231)x4 | copy number gain | See cases [RCV000447589] | Chr22:47465162..49147231 [GRCh37] Chr22:22q13.31-13.32 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 | copy number loss | See cases [RCV000447857] | Chr22:46866460..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 | copy number loss | See cases [RCV000512121] | Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 | copy number loss | See cases [RCV000510351] | Chr22:46543160..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 | copy number loss | See cases [RCV000511340] | Chr22:48556939..51197838 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 | copy number loss | See cases [RCV000511220] | Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48794195-49876931)x3 | copy number gain | See cases [RCV000511033] | Chr22:48794195..49876931 [GRCh37] Chr22:22q13.32-13.33 |
uncertain significance |
| GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 | copy number loss | See cases [RCV000511256] | Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 | copy number loss | See cases [RCV000510765] | Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 | copy number loss | See cases [RCV000511015] | Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) | copy number loss | 22q13.3 deletion syndrome [RCV000767671] | Chr22:48533991..51178264 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 | copy number loss | not provided [RCV000684522] | Chr22:46780978..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 | copy number loss | not provided [RCV000684523] | Chr22:46768838..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 | copy number loss | not provided [RCV000684524] | Chr22:46667744..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 | copy number loss | not provided [RCV000684525] | Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 | copy number loss | not provided [RCV000684526] | Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 | copy number loss | not provided [RCV000684527] | Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 | copy number loss | not provided [RCV000684528] | Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 | copy number loss | not provided [RCV000684529] | Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48480251-49752332)x3 | copy number gain | not provided [RCV000684493] | Chr22:48480251..49752332 [GRCh37] Chr22:22q13.32-13.33 |
likely benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 | copy number loss | not provided [RCV000741989] | Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 | copy number loss | not provided [RCV000742061] | Chr22:47782346..51243435 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 | copy number loss | not provided [RCV000742062] | Chr22:48125251..51211392 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32(chr22:48890183-48895339)x1 | copy number loss | not provided [RCV000742067] | Chr22:48890183..48895339 [GRCh37] Chr22:22q13.32 |
benign |
| GRCh37/hg19 22q13.32(chr22:48893382-48894014)x1 | copy number loss | not provided [RCV000742068] | Chr22:48893382..48894014 [GRCh37] Chr22:22q13.32 |
benign |
| GRCh37/hg19 22q13.32(chr22:49063774-49064434)x0 | copy number loss | not provided [RCV000742069] | Chr22:49063774..49064434 [GRCh37] Chr22:22q13.32 |
benign |
| GRCh37/hg19 22q13.32(chr22:49079153-49101208)x1 | copy number loss | not provided [RCV000742070] | Chr22:49079153..49101208 [GRCh37] Chr22:22q13.32 |
benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| NM_001082967.3(TAFA5):c.180G>A (p.Thr60=) | single nucleotide variant | not provided [RCV000959698] | Chr22:48646664 [GRCh38] Chr22:49042476 [GRCh37] Chr22:22q13.32 |
benign |
| GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) | copy number loss | 22q13.3 deletion syndrome [RCV000767745] | Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
| Single allele | deletion | not provided [RCV000768459] | Chr22:46794432..51139778 [GRCh37] Chr22:22q13.31-13.33 |
likely pathogenic |
| GRCh37/hg19 22q13.31-13.32(chr22:48371613-49328017)x4 | copy number gain | not provided [RCV000846977] | Chr22:48371613..49328017 [GRCh37] Chr22:22q13.31-13.32 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.32(chr22:48371415-49305438)x4 | copy number gain | not provided [RCV000847146] | Chr22:48371415..49305438 [GRCh37] Chr22:22q13.31-13.32 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 | copy number gain | not provided [RCV000849204] | Chr22:46432744..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 | copy number gain | not provided [RCV000846659] | Chr22:47740201..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:21592 | AgrOrtholog |
| COSMIC | TAFA5 | COSMIC |
| Ensembl Genes | ENSG00000219438 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000336812 | UniProtKB/TrEMBL |
| ENSP00000351043 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000383933 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000385603 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000336769 | UniProtKB/TrEMBL |
| ENST00000358295 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000402357 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000406880 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000219438 | GTEx |
| HGNC ID | HGNC:21592 | ENTREZGENE |
| Human Proteome Map | TAFA5 | Human Proteome Map |
| InterPro | Chemokine-like_FAM19A2 | UniProtKB/Swiss-Prot |
| FAM19A5 | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:25817 | UniProtKB/Swiss-Prot |
| NCBI Gene | 25817 | ENTREZGENE |
| OMIM | 617499 | OMIM |
| PANTHER | PTHR31878 | UniProtKB/Swiss-Prot |
| Pfam | TAFA | UniProtKB/Swiss-Prot |
| PharmGKB | PA134887312 | PharmGKB |
| UniGene | Hs.436854 | ENTREZGENE |
| UniProt | B1B1J6_HUMAN | UniProtKB/TrEMBL |
| Q7Z5A7 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | A6NII9 | UniProtKB/Swiss-Prot |
| B0QZ13 | UniProtKB/Swiss-Prot | |
| B0QZ14 | UniProtKB/Swiss-Prot | |
| B0QZ15 | UniProtKB/Swiss-Prot | |
| O95902 | UniProtKB/Swiss-Prot | |
| Q5H9C4 | UniProtKB/Swiss-Prot | |
| Q6UWC9 | UniProtKB/Swiss-Prot | |
| Q8IXR8 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-01-22 | TAFA5 | TAFA chemokine like family member 5 | FAM19A5 | family with sequence similarity 19 member A5, C-C motif chemokine like | Symbol and/or name change | 5135510 | APPROVED |
| 2016-05-31 | FAM19A5 | family with sequence similarity 19 member A5, C-C motif chemokine like | family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | FAM19A5 | family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 | FAM19A5 | family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on TAFA5 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1342880 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
