TAFA5 (TAFA chemokine like family member 5)

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Gene: TAFA5 (TAFA chemokine like family member 5) Homo sapiens

Analyze

Symbol:

TAFA5

Name:

TAFA chemokine like family member 5

RGD ID:

1342880

HGNC Page

HGNC

Description:

Predicted to have cytokine activity. Predicted to be involved in negative regulation of vascular associated smooth muscle cell proliferation; negative regulation of vascular wound healing; and signal transduction. Predicted to localize to several cellular components, including extracellular space; integral component of membrane; and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

chemokine-like protein TAFA-5; FAM19A5; family with sequence similarity 19 (chemokine (C-C motif)-like), member A5; family with sequence similarity 19 member A5, C-C motif chemokine like; QLLK5208; TAFA protein 5; TAFA-5; UNQ5208

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	22	48,489,553 - 48,850,912 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	22	48,489,460 - 48,850,912 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	22	48,489,553 - 48,751,932 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	22	48,885,365 - 49,147,744 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	47,428,841 - 47,533,750 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	22	47,363,699 - 47,468,605	NCBI
Celera	22	32,799,018 - 33,062,366 (+)	NCBI
Cytogenetic Map	22	q13.32	NCBI
HuRef	22	31,967,780 - 32,090,939 (+)	NCBI		HuRef
CHM1_1	22	48,843,998 - 49,106,142 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

intellectual disability (IAGP)

Phelan-McDermid syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

8-Br-cAMP (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP)

aflatoxin B2 (EXP)

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

azathioprine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

cisplatin (EXP)

clothianidin (EXP)

copper(II) sulfate (EXP)

cyclophosphamide (ISO)

cyclosporin A (EXP,ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

methamphetamine (ISO)

methapyrilene (EXP)

methotrexate (ISO)

methylmercury chloride (EXP)

N-methyl-4-phenylpyridinium (EXP)

nickel atom (EXP)

ozone (ISO)

phenylmercury acetate (EXP)

prednisolone (ISO)

quercetin (EXP)

resorcinol (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

G protein-coupled receptor signaling pathway (IDA,IEA)

negative regulation of vascular associated smooth muscle cell migration (IEA)

negative regulation of vascular associated smooth muscle cell proliferation (IDA,IEA,IMP,ISO)

negative regulation of vascular wound healing (IEA,ISO)

Cellular Component

cytoplasm (IEA)

extracellular space (IDA,IEA)

integral component of membrane (IEA)

nucleus (IEA)

Molecular Function

cytokine activity (IEA)

receptor ligand activity (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

Intellectual disability (IAGP)

References

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

Additional References at PubMed

PMID:8619474	PMID:8889548	PMID:9110174	PMID:10591208	PMID:12477932	PMID:12975309	PMID:15028294	PMID:15489334	PMID:18275939	PMID:20379614	PMID:22158540	PMID:24322204
PMID:28298427	PMID:28611215	PMID:31280604	PMID:31702029

Genomics

Comparative Map Data

TAFA5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	22	48,489,553 - 48,850,912 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	22	48,489,460 - 48,850,912 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	22	48,489,553 - 48,751,932 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	22	48,885,365 - 49,147,744 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	47,428,841 - 47,533,750 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	22	47,363,699 - 47,468,605	NCBI
Celera	22	32,799,018 - 33,062,366 (+)	NCBI
Cytogenetic Map	22	q13.32	NCBI
HuRef	22	31,967,780 - 32,090,939 (+)	NCBI		HuRef
CHM1_1	22	48,843,998 - 49,106,142 (+)	NCBI		CHM1_1

Tafa5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	87,428,405 - 87,643,565 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	15	87,428,500 - 87,643,565 (+)	Ensembl
GRCm38	15	87,544,219 - 87,759,364 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	87,544,299 - 87,759,364 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	87,455,660 - 87,589,794 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	15	87,452,996 - 87,587,130 (+)	NCBI			mm8
Celera	15	89,759,876 - 89,888,462 (+)	NCBI		Celera
Cytogenetic Map	15	E3	NCBI

Tafa5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	118,613,731 - 118,835,016 (+)	NCBI
Rnor_6.0 Ensembl	7	128,500,011 - 128,728,928 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	7	128,500,009 - 128,728,834 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	7	128,196,289 - 128,420,388 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	125,835,416 - 126,056,345 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	7	115,110,201 - 115,330,283 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Tafa5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	32,094,438 - 32,200,329 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	32,094,438 - 32,200,276 (+)	NCBI	ChiLan1.0	ChiLan1.0

TAFA5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	22	47,793,039 - 47,976,118 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
Mhudiblu_PPA_v0	22	28,675,007 - 28,943,154 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

TAFA5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	18,093,455 - 18,186,776 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	18,083,899 - 18,236,736 (-)	NCBI
ROS_Cfam_1.0	10	18,830,722 - 18,985,497 (-)	NCBI
UMICH_Zoey_3.1	10	18,550,683 - 18,703,644 (-)	NCBI
UNSW_CanFamBas_1.0	10	18,860,924 - 19,016,176 (-)	NCBI
UU_Cfam_GSD_1.0	10	19,005,700 - 19,160,385 (-)	NCBI

Tafa5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	1,781,171 - 1,906,215 (-)	NCBI
SpeTri2.0	NW_004936629	1,781,169 - 1,906,215 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TAFA5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	1,400,588 - 1,569,846 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	1,413,030 - 1,569,951 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

TAFA5
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	19	30,985,913 - 31,247,087 (+)	NCBI
ChlSab1.1 Ensembl	19	31,073,084 - 31,247,161 (+)	Ensembl

Tafa5
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624752	1,649,875 - 1,754,591 (-)	NCBI

Position Markers

D22S1161

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	48,985,706 - 48,985,942	UniSTS	GRCh37
Build 36	22	47,372,269 - 47,372,505	RGD	NCBI36
Celera	22	32,899,738 - 32,899,976	RGD
Cytogenetic Map	22	q13.32	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	31,927,730 - 31,927,968	UniSTS
Marshfield Genetic Map	22	59.5	UniSTS
Marshfield Genetic Map	22	59.5	RGD
Genethon Genetic Map	22	55.9	UniSTS

RH103084

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	49,147,450 - 49,147,651	UniSTS	GRCh37
Build 36	22	47,533,456 - 47,533,657	RGD	NCBI36
Celera	22	33,062,072 - 33,062,273	RGD
Cytogenetic Map	22	q13.32	UniSTS
HuRef	22	32,090,645 - 32,090,846	UniSTS
GeneMap99-GB4 RH Map	22	166.88	UniSTS

G62544

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	49,106,748 - 49,107,032	UniSTS	GRCh37
Build 36	22	47,492,754 - 47,493,038	RGD	NCBI36
Celera	22	33,021,209 - 33,021,493	RGD
Cytogenetic Map	22	q13.32	UniSTS
HuRef	22	32,049,481 - 32,049,765	UniSTS
TNG Radiation Hybrid Map	22	12703.0	UniSTS

G63572

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	48,991,398 - 48,991,740	UniSTS	GRCh37
Build 36	22	47,377,961 - 47,378,303	RGD	NCBI36
Celera	22	32,905,432 - 32,905,774	RGD
Cytogenetic Map	22	q13.32	UniSTS
HuRef	22	31,933,424 - 31,933,766	UniSTS
TNG Radiation Hybrid Map	22	12742.0	UniSTS

stD22S34

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	48,948,956 - 48,949,110	UniSTS	GRCh37
Build 36	22	47,327,620 - 47,327,774	RGD	NCBI36
Celera	22	32,862,685 - 32,862,839	RGD
Cytogenetic Map	22	q13.32	UniSTS
HuRef	22	31,894,321 - 31,894,475	UniSTS

AL022479

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	48,960,088 - 48,960,184	UniSTS	GRCh37
Build 36	22	47,338,752 - 47,338,848	RGD	NCBI36
Celera	22	32,873,814 - 32,873,910	RGD
Cytogenetic Map	22	q13.32	UniSTS
HuRef	22	31,905,450 - 31,905,546	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2392
Count of miRNA genes:	827
Interacting mature miRNAs:	966
Transcripts:	ENST00000336769, ENST00000358295, ENST00000402357, ENST00000406880, ENST00000473898
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

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

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

414

522

108

969

127

3423

373

695

Low

1840

1319

1194

409

282

253

2742

1309

259

293

966

1238

158

949

1607

Below cutoff

962

382

149

909

150

594

736

179

213

483

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:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	22	48,489,592 - 48,850,912 (+)	Ensembl

RefSeq Acc Id:

ENST00000358295 ⟹ ENSP00000351043

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	22	48,576,306 - 48,751,932 (+)	Ensembl

RefSeq Acc Id:

ENST00000402357 ⟹ ENSP00000383933

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	22	48,489,553 - 48,751,932 (+)	Ensembl

RefSeq Acc Id:

ENST00000406880 ⟹ ENSP00000385603

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	22	48,693,247 - 48,750,408 (+)	Ensembl

RefSeq Acc Id:

ENST00000473898

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	22	48,576,453 - 48,750,488 (+)	Ensembl

RefSeq Acc Id:

NM_001082967 ⟹ NP_001076436

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	48,489,553 - 48,751,932 (+)	NCBI
GRCh37	22	48,885,288 - 49,147,744 (+)	RGD
Build 36	22	47,428,845 - 47,533,750 (+)	NCBI Archive
Celera	22	32,799,018 - 33,062,366 (+)	RGD
HuRef	22	31,967,780 - 32,090,942 (+)	NCBI
CHM1_1	22	48,843,998 - 49,106,142 (+)	NCBI

Sequence:

show sequence

GGGCCCGGGCGCGGCGGCGGCGGCGGCGGAGGATGGCGCGCGCGGGGCCCGCACGTGGAGGCCG
GCGCGGGGGCGCGGGCAGGGCCGGCTGCTGAGACGCGCTGCTGCCCCCCGCGCGGGCGCCGCGG
CTTCAATGGCGCCATCGCCCAGGACCGGCAGCCGGCAAGATGCGACCGCCCTGCCCAGCATGTC
CTCAACTTTCTGGGCGTTCATGATCCTGGCCAGCCTGCTCATCGCCTACTGCAGTCAGCTGGCC
GCCGGCACCTGTGAGATTGTGACCTTGGACCGGGACAGCAGCCAGCCTCGGAGGACGATCGCCC
GGCAGACCGCCCGCTGTGCGTGTAGAAAGGGGCAGATCGCCGGCACCACGAGAGCCCGGCCCGC
CTGTGTGGACGCAAGAATCATCAAGACCAAGCAGTGGTGTGACATGCTTCCGTGTCTGGAGGGG
GAAGGCTGCGACTTGTTAATCAACCGGTCAGGCTGGACGTGCACGCAGCCCGGCGGGAGGATAA
AGACCACCACGGTCTCCTGACAAACACAGCCCCTGAGGGGCCCCGGGAGTGGCCTTGGCTCCCT
GGAGAGCCCACGTCTCAGCCACAGTTCTCCACTCGCCTCGGACTTCACCCGTTCTCTGCCGCCC
GCCCACTCCGTTTCCCTGTGGTCCGTGAAGGACGGCCTCAGGCCTTGGCATCCTGAGCTTCGGT
CTGTCCAGCCGACCCGAGGAGGCCGGACTCAGACACATAGGCGGGGGGCGGCACCTGGCATCAG
CAATACGCAGTCTGTGGGAGCCCGGCCGCGCCCAGCCCCCGCCGACCGTGGCGTTGGCCCTGCT
GTCCTCAGAGGAGGAGGAGGAGGAGGCAGCTCCGGCAGCCACAGAAGGCTGCAGCCCAGCCCGC
CTGAGACACGACGCCTGCCCCAGGGGACTGTCAGGCACAGAAGCGGCCTCCTCCCGTGCCCCAG
ACTGTCCGAATTGCTTTTATTTTCTTATACTTTCAGTATACTCCATAGACCAAAGAGCAAAATC
TATCTGAACCTGGACGCACCCTCACTGTCAGGGTCCCTGGGGTCGCTTGTGCGGGCGGGAGGGC
AATGGTGGCAGAGACATGCTGGTGGCCCCGGCGGAGCGGAGAGGGCGGCCGTGGTGGAGGCCTC
CACCCCAGGAGCACCCCGCGCACCCTCGGAGGACGGGCTTCGGCTGCGCGGAGGCCGTGGCACA
CCTGCGGGAGGCAGCGACGGCCCCCACGCAGACGCCGGGAACGCAGGCCGCTTTATTCCTCTGT
ACTTAGATCAACTTGACCGTACTAAAATCCCTTTCTGTTTTAACCAGTTAAACATGCCTCTTCT
ACAGCTCCATTTTTGATAGTTGGATAATCCAGTATCTGCCAAGAGCATGTTGGGTCTCCCGTGA
CTGCTGCCTCATCGATACCCCATTTAGCTCCAGAAAGCAAAGAAAACTCGAGTAACACTTGTTT
GAAAGAGATCATTAAATGTATTTTGCAAAGCCTAAAGTTATATATTTAACAGTTTTTATATGTT
GTATATTTGTAGAAAATCCTATTTAACAATTAACGTGGCAGTCCCGGCCGTCCTGAGAGTCGGG
CCGAGCCCCGTGTGTTTCTGAAGACTCTGGGGGTGGGACACGGCGGGGAGGTGGTGCCCCGCGG
ACCCCGGGGTGCCAGGCACGGAAGGCGGGACTCTGGGAGAAGCGTGCGGAGGACCGTGGCGTCG
GCGTCCCGGATGTGTCGGTCGTGCCCGGGGAGGCCGGGTTCCCCTCGCTGCGGGCCAGGCTTGG
CTCCTGATTCCCTCTCTGGTCCCTGTATTGGTCAACACTTGAGCGTACAATATCTTGAACATGC
TTCTTCCAATGGGTTTTGTTTCCCATTTCCTGCCCCTTTCGCCACTCACGGACCTTGAGGCCAG
TTGACGGCCCTTCTCCCCACGCCTGTGTCCCCGCGTTCTGAGAAGTCCTCTGTCTTCGTGTCAC
TAGGTCCAGAAAGTCGCGCCGGGCAGAGGCGCAGGCGGGGCCGGCAGGGCCGAGGAATAAGCGA
CAATTCTGGTTTTTCTCCCCTGGCCGTCGTTCGCCAGCCTCCTTCATTTTCCTGAGTTCCCGCT
GAAGTATATACTACCTATGAGTCCAATTAACATGAGTATTATGCTAGTTCTATCCTACTAAAAA
AAACGTAAAAAAATAACTATATAGAAGCTGTTCCAGCAACCATAGACTGAAGATACGAAAGAAA
ATCCATTTATTTAAGACCTGTTCCGGTATCCATGAGGACATAATTTACCTTTCAGTCACCACAA
ATTTATAGGCATTTGTATCCTGGACTAAAAGAAGGGGCTGAGGTTGGGTTTGTCATCACAGAGG
GGGTGGGCCTGGAAAGGGTCCTTCCCAAGCTGCCCCGGCTCCGGCGGCCCGGGCCGGCAGCCTC
TGCCAGCCAGCGTCCTCACGGCCTCCCCCTCGCCTGTTTCTTTTGAAAGCAAGTGTAGACACCT
TCGAGGGCAGAGATCGGGAGATTTAAGATGTTACAGCATATTTTTTTTTCTTGTTTTACAGTAT
TCAATTTTGTGTTGATTCAGCTAAATTATGAAAAATAAAGAAAAACTCCTTTGATAAGCA

hide sequence

RefSeq Acc Id:

NM_015381 ⟹ NP_056196

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	48,576,340 - 48,751,932 (+)	NCBI
GRCh37	22	48,885,288 - 49,147,744 (+)	RGD
Build 36	22	47,428,841 - 47,533,750 (+)	NCBI Archive
Celera	22	32,799,018 - 33,062,366 (+)	RGD
HuRef	22	31,967,780 - 32,090,942 (+)	NCBI
CHM1_1	22	48,930,840 - 49,106,142 (+)	NCBI

Sequence:

show sequence

AAAGACACAAATCGCCTCCCGGAGTGGCGCCTCCAGTCGCGGCGGAGCGCGGCGTTGGCGGCGG
ATGGAGGGCGCGAGCGGGCGGCCGCGGAGGCTGCACCCGGCGGGGCGCTGATGCGGCGCCTGGA
CCTTCGCTGCGCGACTTCGGGGGCGTCGGCCGAGTTGGGACTCCGCGATGCAGCTCCTGAAGGC
GCTCTGGGCACTGGCAGGGGCCGCGCTCTGCTGCTTCCTCGTCCTAGTGATCCACGCGCAGTTC
CTCAAAGAAGGTCAGCTGGCCGCCGGCACCTGTGAGATTGTGACCTTGGACCGGGACAGCAGCC
AGCCTCGGAGGACGATCGCCCGGCAGACCGCCCGCTGTGCGTGTAGAAAGGGGCAGATCGCCGG
CACCACGAGAGCCCGGCCCGCCTGTGTGGACGCAAGAATCATCAAGACCAAGCAGTGGTGTGAC
ATGCTTCCGTGTCTGGAGGGGGAAGGCTGCGACTTGTTAATCAACCGGTCAGGCTGGACGTGCA
CGCAGCCCGGCGGGAGGATAAAGACCACCACGGTCTCCTGACAAACACAGCCCCTGAGGGGCCC
CGGGAGTGGCCTTGGCTCCCTGGAGAGCCCACGTCTCAGCCACAGTTCTCCACTCGCCTCGGAC
TTCACCCGTTCTCTGCCGCCCGCCCACTCCGTTTCCCTGTGGTCCGTGAAGGACGGCCTCAGGC
CTTGGCATCCTGAGCTTCGGTCTGTCCAGCCGACCCGAGGAGGCCGGACTCAGACACATAGGCG
GGGGGCGGCACCTGGCATCAGCAATACGCAGTCTGTGGGAGCCCGGCCGCGCCCAGCCCCCGCC
GACCGTGGCGTTGGCCCTGCTGTCCTCAGAGGAGGAGGAGGAGGAGGCAGCTCCGGCAGCCACA
GAAGGCTGCAGCCCAGCCCGCCTGAGACACGACGCCTGCCCCAGGGGACTGTCAGGCACAGAAG
CGGCCTCCTCCCGTGCCCCAGACTGTCCGAATTGCTTTTATTTTCTTATACTTTCAGTATACTC
CATAGACCAAAGAGCAAAATCTATCTGAACCTGGACGCACCCTCACTGTCAGGGTCCCTGGGGT
CGCTTGTGCGGGCGGGAGGGCAATGGTGGCAGAGACATGCTGGTGGCCCCGGCGGAGCGGAGAG
GGCGGCCGTGGTGGAGGCCTCCACCCCAGGAGCACCCCGCGCACCCTCGGAGGACGGGCTTCGG
CTGCGCGGAGGCCGTGGCACACCTGCGGGAGGCAGCGACGGCCCCCACGCAGACGCCGGGAACG
CAGGCCGCTTTATTCCTCTGTACTTAGATCAACTTGACCGTACTAAAATCCCTTTCTGTTTTAA
CCAGTTAAACATGCCTCTTCTACAGCTCCATTTTTGATAGTTGGATAATCCAGTATCTGCCAAG
AGCATGTTGGGTCTCCCGTGACTGCTGCCTCATCGATACCCCATTTAGCTCCAGAAAGCAAAGA
AAACTCGAGTAACACTTGTTTGAAAGAGATCATTAAATGTATTTTGCAAAGCCTAAAGTTATAT
ATTTAACAGTTTTTATATGTTGTATATTTGTAGAAAATCCTATTTAACAATTAACGTGGCAGTC
CCGGCCGTCCTGAGAGTCGGGCCGAGCCCCGTGTGTTTCTGAAGACTCTGGGGGTGGGACACGG
CGGGGAGGTGGTGCCCCGCGGACCCCGGGGTGCCAGGCACGGAAGGCGGGACTCTGGGAGAAGC
GTGCGGAGGACCGTGGCGTCGGCGTCCCGGATGTGTCGGTCGTGCCCGGGGAGGCCGGGTTCCC
CTCGCTGCGGGCCAGGCTTGGCTCCTGATTCCCTCTCTGGTCCCTGTATTGGTCAACACTTGAG
CGTACAATATCTTGAACATGCTTCTTCCAATGGGTTTTGTTTCCCATTTCCTGCCCCTTTCGCC
ACTCACGGACCTTGAGGCCAGTTGACGGCCCTTCTCCCCACGCCTGTGTCCCCGCGTTCTGAGA
AGTCCTCTGTCTTCGTGTCACTAGGTCCAGAAAGTCGCGCCGGGCAGAGGCGCAGGCGGGGCCG
GCAGGGCCGAGGAATAAGCGACAATTCTGGTTTTTCTCCCCTGGCCGTCGTTCGCCAGCCTCCT
TCATTTTCCTGAGTTCCCGCTGAAGTATATACTACCTATGAGTCCAATTAACATGAGTATTATG
CTAGTTCTATCCTACTAAAAAAAACGTAAAAAAATAACTATATAGAAGCTGTTCCAGCAACCAT
AGACTGAAGATACGAAAGAAAATCCATTTATTTAAGACCTGTTCCGGTATCCATGAGGACATAA
TTTACCTTTCAGTCACCACAAATTTATAGGCATTTGTATCCTGGACTAAAAGAAGGGGCTGAGG
TTGGGTTTGTCATCACAGAGGGGGTGGGCCTGGAAAGGGTCCTTCCCAAGCTGCCCCGGCTCCG
GCGGCCCGGGCCGGCAGCCTCTGCCAGCCAGCGTCCTCACGGCCTCCCCCTCGCCTGTTTCTTT
TGAAAGCAAGTGTAGACACCTTCGAGGGCAGAGATCGGGAGATTTAAGATGTTACAGCATATTT
TTTTTTCTTGTTTTACAGTATTCAATTTTGTGTTGATTCAGCTAAATTATGAAAAATAAAGAAA
AACTCCTTTGATAAGCA

hide 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:	show sequence MAPSPRTGSRQDATALPSMSSTFWAFMILASLLIAYCSQLAAGTCEIVTLDRDSSQPRRTIARQ TARCACRKGQIAGTTRARPACVDARIIKTKQWCDMLPCLEGEGCDLLINRSGWTCTQPGGRIKT TTVS hide sequence

RefSeq Acc Id:	NP_056196 ⟸ NM_015381
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q7Z5A7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MQLLKALWALAGAALCCFLVLVIHAQFLKEGQLAAGTCEIVTLDRDSSQPRRTIARQTARCACR KGQIAGTTRARPACVDARIIKTKQWCDMLPCLEGEGCDLLINRSGWTCTQPGGRIKTTTVS hide 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:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	48,489,553 - 48,489,613	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	copy number loss	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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
Single allele	deletion	Intellectual disability [RCV001293376]	Chr22:42333802..51195728 [GRCh37] Chr22:22q13.2-13.33	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]	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 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	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
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3	copy number gain	not provided [RCV001007507]	Chr22:48454469..51144947 [GRCh37] Chr22:22q13.32-13.33	pathogenic
Single allele	copy number loss	22q13.3 interstitial deletion [RCV001200047]	Chr22:44850001..50850001 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1	copy number loss	not provided [RCV001007506]	Chr22:48223839..51197725 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32(chr22:48949440-49220201)x3	copy number gain	not provided [RCV001007193]	Chr22:48949440..49220201 [GRCh37] Chr22:22q13.32	uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1	copy number loss	not provided [RCV001007508]	Chr22:48528536..51183840 [GRCh37] Chr22:22q13.32-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254369]	Chr22:44245760..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254370]	Chr22:44702479..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254367]	Chr22:46467175..50759338 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254356]	Chr22:43032129..50739836 [GRCh38] Chr22:22q13.2-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254357]	Chr22:47513236..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254362]	Chr22:47447433..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254359]	Chr22:45708330..50737364 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254360]	Chr22:47705262..50739836 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254361]	Chr22:48500344..50780581 [GRCh38] Chr22:22q13.32-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254365]	Chr22:48500337..50739785 [GRCh38] Chr22:22q13.32-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254355]	Chr22:47823120..50759410 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254358]	Chr22:46269281..50740560 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254363]	Chr22:46489644..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254364]	Chr22:43802117..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	22q13.3 deletion syndrome [RCV001254366]	Chr22:45819932..50737806 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [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, UniProtKB/TrEMBL
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, UniProtKB/TrEMBL
	FAM19A5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:25817	UniProtKB/Swiss-Prot
NCBI Gene	25817	ENTREZGENE
OMIM	617499	OMIM
PANTHER	PTHR31878	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TAFA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134887312	PharmGKB
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	FAM19A5	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	Symbol and/or name change	5135510	APPROVED

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
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar