Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISS | Tafa3 (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISS | Tafa3 (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12107411 | PMID:12477932 | PMID:15028294 | PMID:16710414 | PMID:21873635 | PMID:25595455 | PMID:28514442 | PMID:33961781 | PMID:35156780 |
TAFA3 (Homo sapiens - human) |
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Tafa3 (Mus musculus - house mouse) |
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Tafa3 (Rattus norvegicus - Norway rat) |
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Tafa3 (Chinchilla lanigera - long-tailed chinchilla) |
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TAFA3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TAFA3 (Canis lupus familiaris - dog) |
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Tafa3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TAFA3 (Sus scrofa - pig) |
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TAFA3 (Chlorocebus sabaeus - green monkey) |
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Tafa3 (Heterocephalus glaber - naked mole-rat) |
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Variants in TAFA3
3 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3 | copy number gain | See cases [RCV000050585] | Chr1:112687324..113216458 [GRCh38] Chr1:113229946..113759080 [GRCh37] Chr1:113031469..113560603 [NCBI36] Chr1:1p13.2 |
uncertain significance |
GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3 | copy number gain | See cases [RCV000051203] | Chr1:112147402..113470058 [GRCh38] Chr1:112690024..114012680 [GRCh37] Chr1:112491547..113814203 [NCBI36] Chr1:1p13.2 |
uncertain significance |
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 | copy number gain | See cases [RCV000051827] | Chr1:109756630..118650204 [GRCh38] Chr1:110299252..119192827 [GRCh37] Chr1:110100775..118994350 [NCBI36] Chr1:1p13.3-12 |
pathogenic |
GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3 | copy number gain | See cases [RCV000135999] | Chr1:112625023..113046966 [GRCh38] Chr1:113167645..113589588 [GRCh37] Chr1:112969168..113391111 [NCBI36] Chr1:1p13.2 |
likely benign |
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 | copy number gain | See cases [RCV000142953] | Chr1:104325484..119977655 [GRCh38] Chr1:104868106..120471049 [GRCh37] Chr1:104669629..120321801 [NCBI36] Chr1:1p21.1-12 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207154] | Chr1:113134186..113265713 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
GRCh37/hg19 1p13.2(chr1:113213652-113947403)x3 | copy number gain | See cases [RCV000240316] | Chr1:113213652..113947403 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:113263710-113707896)x3 | copy number gain | See cases [RCV000449116] | Chr1:113263710..113707896 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:112311427-113836310)x1 | copy number loss | See cases [RCV000448763] | Chr1:112311427..113836310 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 | copy number gain | See cases [RCV000512354] | Chr1:93837992..121343783 [GRCh37] Chr1:1p22.1-11.2 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:113247033-113784170)x3 | copy number gain | not provided [RCV000684615] | Chr1:113247033..113784170 [GRCh37] Chr1:1p13.2 |
likely benign |
GRCh37/hg19 1p13.2(chr1:113247033-113703255)x3 | copy number gain | not provided [RCV000684614] | Chr1:113247033..113703255 [GRCh37] Chr1:1p13.2 |
likely benign |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:113186778-113373705)x3 | copy number gain | not provided [RCV000736653] | Chr1:113186778..113373705 [GRCh37] Chr1:1p13.2 |
benign |
NC_000001.11:g.112796384_112887499dup | duplication | Primary amenorrhea [RCV000754395] | Chr1:112796384..112887499 [GRCh38] Chr1:113339006..113430121 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:113234268-113743303)x3 | copy number gain | not provided [RCV000847789] | Chr1:113234268..113743303 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) | copy number loss | Seizure [RCV001352640] | Chr1:102021465..119737478 [GRCh37] Chr1:1p21.2-12 |
pathogenic |
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) | copy number loss | not specified [RCV002053503] | Chr1:95046805..114714931 [GRCh37] Chr1:1p21.3-13.2 |
pathogenic |
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) | copy number gain | not specified [RCV002053602] | Chr1:111647582..121343783 [GRCh37] Chr1:1p13.3-11.2 |
pathogenic |
NC_000001.10:g.(?_112318699)_(115576848_?)del | deletion | Hereditary spastic paraplegia 47 [RCV003109541] | Chr1:112318699..115576848 [GRCh37] Chr1:1p13.2 |
pathogenic |
NC_000001.10:g.(?_111145905)_(114454813_?)del | deletion | not provided [RCV003113195] | Chr1:111145905..114454813 [GRCh37] Chr1:1p13.3-13.2 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:113247034-113775137)x3 | copy number gain | not provided [RCV002474954] | Chr1:113247034..113775137 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:113269498-113862415)x3 | copy number gain | not provided [RCV002473791] | Chr1:113269498..113862415 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_182759.3(TAFA3):c.398G>A (p.Arg133Gln) | single nucleotide variant | Inborn genetic diseases [RCV003283774] | Chr1:112726636 [GRCh38] Chr1:113269258 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_182759.3(TAFA3):c.*21G>A | single nucleotide variant | Inborn genetic diseases [RCV003381475] | Chr1:112726661 [GRCh38] Chr1:113269283 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:113192038-113703255)x3 | copy number gain | not provided [RCV003484028] | Chr1:113192038..113703255 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:113201375-113571076)x3 | copy number gain | not provided [RCV003484029] | Chr1:113201375..113571076 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:113223619-113676753)x3 | copy number gain | not provided [RCV003484030] | Chr1:113223619..113676753 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 | copy number loss | not provided [RCV003483294] | Chr1:110066946..116672408 [GRCh37] Chr1:1p13.3-13.1 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:113095600-113554789)x3 | copy number gain | not specified [RCV003987084] | Chr1:113095600..113554789 [GRCh37] Chr1:1p13.2 |
uncertain significance |
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. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 28 | 17 | 3 | 73 | 2 | 309 | 9 | 1 | ||||||||
Low | 65 | 16 | 523 | 13 | 80 | 13 | 413 | 26 | 1362 | 76 | 577 | 437 | 8 | 165 | 113 | |
Below cutoff | 1294 | 1076 | 771 | 296 | 480 | 161 | 2268 | 869 | 2050 | 208 | 510 | 774 | 139 | 719 | 1366 | 2 |
RefSeq Acc Id: | ENST00000361886 ⟹ ENSP00000355042 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000369630 ⟹ ENSP00000358644 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001004440 ⟹ NP_001004440 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_182759 ⟹ NP_877436 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_169586 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_877436 ⟸ NM_182759 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q2M1P9 (UniProtKB/Swiss-Prot), B7ZLU0 (UniProtKB/Swiss-Prot), Q7Z5A6 (UniProtKB/Swiss-Prot), Q7Z5A8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001004440 ⟸ NM_001004440 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q7Z5A8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000355042 ⟸ ENST00000361886 |
RefSeq Acc Id: | ENSP00000358644 ⟸ ENST00000369630 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7Z5A8-F1-model_v2 | AlphaFold | Q7Z5A8 | 1-133 | view protein structure |
RGD ID: | 6856672 | ||||||||
Promoter ID: | EPDNEW_H1500 | ||||||||
Type: | initiation region | ||||||||
Name: | FAM19A3_1 | ||||||||
Description: | family with sequence similarity 19 member A3, C-C motif chemokinelike | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | HGNC:21590 | AgrOrtholog |
COSMIC | TAFA3 | COSMIC |
Ensembl Genes | ENSG00000184599 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000361886 | ENTREZGENE |
ENST00000361886.4 | UniProtKB/Swiss-Prot | |
ENST00000369630 | ENTREZGENE | |
ENST00000369630.7 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000184599 | GTEx |
HGNC ID | HGNC:21590 | ENTREZGENE |
Human Proteome Map | TAFA3 | Human Proteome Map |
InterPro | Chemokine-like_FAM19A2 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:284467 | UniProtKB/Swiss-Prot |
NCBI Gene | 284467 | ENTREZGENE |
OMIM | 617497 | OMIM |
PANTHER | CHEMOKINE-LIKE PROTEIN TAFA FAMILY MEMBER | UniProtKB/Swiss-Prot |
CHEMOKINE-LIKE PROTEIN TAFA-3 | UniProtKB/Swiss-Prot | |
Pfam | TAFA | UniProtKB/Swiss-Prot |
PharmGKB | PA134899352 | PharmGKB |
UniProt | B7ZLU0 | ENTREZGENE |
Q2M1P9 | ENTREZGENE | |
Q7Z5A6 | ENTREZGENE | |
Q7Z5A8 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B7ZLU0 | UniProtKB/Swiss-Prot |
Q2M1P9 | UniProtKB/Swiss-Prot | |
Q7Z5A6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-01-22 | TAFA3 | TAFA chemokine like family member 3 | FAM19A3 | family with sequence similarity 19 member A3, C-C motif chemokine like | Symbol and/or name change | 5135510 | APPROVED |
2016-05-31 | FAM19A3 | family with sequence similarity 19 member A3, C-C motif chemokine like | family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 | Symbol and/or name change | 5135510 | APPROVED |