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Gene: FAM3B (FAM3 metabolism regulating signaling molecule B) Homo sapiens

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Symbol:

FAM3B

Name:

FAM3 metabolism regulating signaling molecule B

RGD ID:

1323237

HGNC Page

HGNC:1253

Description:

Predicted to enable cytokine activity. Involved in insulin secretion. Located in extracellular exosome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

2-21; C21orf11; C21orf76; cytokine-like protein 2-21; D21M16SJHU19e; family with sequence similarity 3 member B; family with sequence similarity 3, member B; ORF9; pancreatic derived factor; pancreatic-derived factor; PANDER; PRED44

RGD Orthologs

Alliance Orthologs

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	21	41,304,242 - 41,357,727 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	41,304,212 - 41,357,727 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	42,688,728 - 42,729,654 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	41,610,531 - 41,651,524 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	21	27,886,894 - 27,927,901 (+)	NCBI		Celera
Cytogenetic Map	21	q22.3	NCBI
HuRef	21	28,157,559 - 28,198,557 (+)	NCBI		HuRef
CHM1_1	21	42,249,456 - 42,290,457 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	39,692,606 - 39,746,338 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FAM3B	Human	autistic disorder		IAGP	RGD:14351824	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311
FAM3B	Human	Neurodevelopmental Disorders		IAGP	RGD:14698796	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FAM3B	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1323238	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of FAM3B mRNA	CTD	PMID:22206623
FAM3B	Human	1,2-dimethylhydrazine	decreases expression	ISO	RGD:1323238	6480464	1,2-Dimethylhydrazine results in decreased expression of FAM3B mRNA	CTD	PMID:22206623
FAM3B	Human	17alpha-ethynylestradiol	multiple interactions	ISO	RGD:1323238	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FAM3B mRNA	CTD	PMID:17942748
FAM3B	Human	17beta-estradiol	increases expression	ISO	RGD:1311662	6480464	Estradiol results in increased expression of FAM3B mRNA	CTD	PMID:26945725
FAM3B	Human	17beta-estradiol	multiple interactions	ISO	RGD:1311662	6480464	[bisphenol A co-treated with Estradiol] results in increased expression of FAM3B mRNA; [estradiol 3-benzoate co-treated more ...	CTD	PMID:26496021\|PMID:26945725\|PMID:32741896
FAM3B	Human	17beta-estradiol 3-benzoate	multiple interactions	ISO	RGD:1311662	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of FAM3B mRNA	CTD	PMID:32741896
FAM3B	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1323238	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FAM3B mRNA	CTD	PMID:17942748
FAM3B	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1323238	6480464	Tetrachlorodibenzodioxin affects the expression of FAM3B mRNA	CTD	PMID:21570461
FAM3B	Human	3,3',5,5'-tetrabromobisphenol A	decreases expression	ISO	RGD:1311662	6480464	tetrabromobisphenol A results in decreased expression of FAM3B mRNA	CTD	PMID:28300664
FAM3B	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of FAM3B gene	CTD	PMID:31601247
FAM3B	Human	acrylamide	increases expression	ISO	RGD:1311662	6480464	Acrylamide results in increased expression of FAM3B mRNA	CTD	PMID:28959563
FAM3B	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of FAM3B gene	CTD	PMID:25304211
FAM3B	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of FAM3B gene	CTD	PMID:25304211
FAM3B	Human	azathioprine	decreases expression	EXP		6480464	Azathioprine results in decreased expression of FAM3B mRNA	CTD	PMID:22623647
FAM3B	Human	benzo[a]pyrene	increases expression	ISO	RGD:1323238	6480464	Benzo(a)pyrene results in increased expression of FAM3B mRNA	CTD	PMID:25908611
FAM3B	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of FAM3B exon	CTD	PMID:27901495
FAM3B	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of FAM3B promoter	CTD	PMID:27901495
FAM3B	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of FAM3B mRNA	CTD	PMID:26238291
FAM3B	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of FAM3B intron	CTD	PMID:30157460
FAM3B	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of FAM3B mRNA	CTD	PMID:38218311
FAM3B	Human	bisphenol A	multiple interactions	ISO	RGD:1311662	6480464	[bisphenol A co-treated with Estradiol] results in increased expression of FAM3B mRNA	CTD	PMID:26496021
FAM3B	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of FAM3B mRNA	CTD	PMID:30903817
FAM3B	Human	bisphenol A	decreases expression	ISO	RGD:1311662	6480464	bisphenol A results in decreased expression of FAM3B mRNA	CTD	PMID:25181051\|PMID:36779543
FAM3B	Human	buta-1,3-diene	increases expression	ISO	RGD:1323238	6480464	1,3-butadiene results in increased expression of FAM3B mRNA	CTD	PMID:29038090
FAM3B	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of FAM3B mRNA	CTD	PMID:26472689
FAM3B	Human	carbon nanotube	increases expression	ISO	RGD:1323238	6480464	Nanotubes, Carbon analog results in increased expression of FAM3B mRNA; Nanotubes, Carbon results in increased more ...	CTD	PMID:25554681
FAM3B	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to FAM3B gene]	CTD	PMID:28238834
FAM3B	Human	chlordecone	increases expression	ISO	RGD:1323238	6480464	Chlordecone results in increased expression of FAM3B mRNA	CTD	PMID:33711761
FAM3B	Human	chloroprene	decreases expression	ISO	RGD:1311662	6480464	Chloroprene results in decreased expression of FAM3B mRNA	CTD	PMID:23125180
FAM3B	Human	copper atom	decreases expression	ISO	RGD:1311662	6480464	Copper results in decreased expression of FAM3B mRNA	CTD	PMID:30556269
FAM3B	Human	copper(0)	decreases expression	ISO	RGD:1311662	6480464	Copper results in decreased expression of FAM3B mRNA	CTD	PMID:30556269
FAM3B	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of FAM3B mRNA	CTD	PMID:19549813
FAM3B	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of FAM3B mRNA	CTD	PMID:25562108
FAM3B	Human	delphinidin	decreases expression	ISO	RGD:1323238	6480464	delphinidin results in decreased expression of FAM3B mRNA	CTD	PMID:38291899
FAM3B	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of FAM3B mRNA	CTD	PMID:28302478
FAM3B	Human	diuron	increases expression	ISO	RGD:1311662	6480464	Diuron results in increased expression of FAM3B mRNA	CTD	PMID:25152437
FAM3B	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ...	CTD	PMID:27188386
FAM3B	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of FAM3B mRNA	CTD	PMID:26272509
FAM3B	Human	entinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ...	CTD	PMID:27188386
FAM3B	Human	folic acid	multiple interactions	ISO	RGD:1323238	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of FAM3B mRNA	CTD	PMID:22206623
FAM3B	Human	fonofos	increases methylation	EXP		6480464	Fonofos results in increased methylation of FAM3B promoter	CTD	PMID:22847954
FAM3B	Human	furan	increases expression	ISO	RGD:1311662	6480464	furan results in increased expression of FAM3B mRNA	CTD	PMID:27387713
FAM3B	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of FAM3B intron	CTD	PMID:30157460
FAM3B	Human	ozone	multiple interactions	ISO	RGD:1323238	6480464	[Air Pollutants results in increased abundance of Ozone] which results in increased expression of FAM3B more ...	CTD	PMID:27106289
FAM3B	Human	ozone	decreases expression	ISO	RGD:1323238	6480464	Ozone results in decreased expression of FAM3B mRNA	CTD	PMID:33026818
FAM3B	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of FAM3B mRNA	CTD	PMID:26690555
FAM3B	Human	paraquat	decreases expression	ISO	RGD:1311662	6480464	Paraquat results in decreased expression of FAM3B mRNA	CTD	PMID:32680482
FAM3B	Human	parathion	increases methylation	EXP		6480464	Parathion results in increased methylation of FAM3B promoter	CTD	PMID:22847954
FAM3B	Human	pirinixic acid	decreases expression	ISO	RGD:1323238	6480464	pirinixic acid results in decreased expression of FAM3B mRNA	CTD	PMID:17426115
FAM3B	Human	quercetin	decreases expression	EXP		6480464	Quercetin results in decreased expression of FAM3B mRNA	CTD	PMID:21632981
FAM3B	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ...	CTD	PMID:27188386
FAM3B	Human	serpentine asbestos	increases expression	EXP		6480464	Asbestos, Serpentine results in increased expression of FAM3B mRNA	CTD	PMID:33581214
FAM3B	Human	silicon dioxide	increases expression	ISO	RGD:1311662	6480464	Silicon Dioxide results in increased expression of FAM3B mRNA	CTD	PMID:22431001
FAM3B	Human	terbufos	increases methylation	EXP		6480464	terbufos results in increased methylation of FAM3B promoter	CTD	PMID:22847954
FAM3B	Human	testosterone	multiple interactions	ISO	RGD:1311662	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of FAM3B mRNA	CTD	PMID:32741896
FAM3B	Human	titanium dioxide	increases expression	ISO	RGD:1311662	6480464	titanium dioxide results in increased expression of FAM3B mRNA	CTD	PMID:30012374
FAM3B	Human	trichloroethene	increases expression	ISO	RGD:1311662	6480464	Trichloroethylene results in increased expression of FAM3B mRNA	CTD	PMID:33387578
FAM3B	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of FAM3B mRNA	CTD	PMID:28818685
FAM3B	Human	valproic acid	affects expression	ISO	RGD:1323238	6480464	Valproic Acid affects the expression of FAM3B mRNA	CTD	PMID:17292431
FAM3B	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of FAM3B gene	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FAM3B	Human	apoptotic process	involved_in	IEA	UniProtKB-KW:KW-0053	150520179		UniProt	GO_REF:0000043
FAM3B	Human	insulin secretion	involved_in	IDA		150520179	PMID:12160727	UniProt	PMID:12160727
FAM3B	Human	insulin secretion	involved_in	IEA	UniProtKB:Q9D309\|ensembl:ENSMUSP00000062006	150520179		Ensembl	GO_REF:0000107
FAM3B	Human	insulin secretion	involved_in	IBA	MGI:1270150\|PANTHER:PTN008556212\|UniProtKB:P58499	150520179		GO_Central	GO_REF:0000033
FAM3B	Human	signal transduction	involved_in	IEA	GO:0005125	150520179		GOC	GO_REF:0000108

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FAM3B	Human	extracellular exosome	located_in	HDA		150520179	PMID:19199708	UniProt	PMID:19199708
FAM3B	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
FAM3B	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044
FAM3B	Human	extracellular region	located_in	NAS		150520179	PMID:12160727	UniProt	PMID:12160727
FAM3B	Human	extracellular space	located_in	IEA	UniProtKB-KW:KW-0202	150520179		UniProt	GO_REF:0000043
FAM3B	Human	extracellular space	is_active_in	IBA	MGI:1201784\|PANTHER:PTN000378191	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FAM3B	Human	carbohydrate binding	enables	IEA	UniRule:UR001922981	150520179		UniProt	GO_REF:0000104
FAM3B	Human	carbohydrate binding	enables	IEA	UniProtKB-KW:KW-0430	150520179		UniProt	GO_REF:0000043
FAM3B	Human	cytokine activity	enables	IEA	UniProtKB-KW:KW-0202	150520179		UniProt	GO_REF:0000043
FAM3B	Human	cytokine activity	enables	NAS		150520179	PMID:12160727	UniProt	PMID:12160727
FAM3B	Human	protein binding	enables	IPI	UniProtKB:P21217	150520179	PMID:32296183, PMID:33961781	IntAct	PMID:32296183\|PMID:33961781
FAM3B	Human	protein binding	enables	IPI	UniProtKB:P02545\|UniProtKB:Q53GS7	150520179	PMID:32814053	IntAct	PMID:32814053

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FAM3B	Human	Autism		IAGP	RGD:14351824	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:10830953	PMID:11707072	PMID:12160727	PMID:12477932	PMID:12975309	PMID:15489334	PMID:16114871	PMID:16249448	PMID:17255364	PMID:19199708	PMID:20237496	PMID:20379614
PMID:21832049	PMID:21873635	PMID:23059759	PMID:23246487	PMID:23300138	PMID:23376485	PMID:23855304	PMID:23903356	PMID:24468680	PMID:24941225	PMID:26123584	PMID:27181109
PMID:28161382	PMID:28514442	PMID:29357840	PMID:30565387	PMID:30982368	PMID:31615875	PMID:32296183	PMID:32442162	PMID:32814053	PMID:33961781	PMID:37105387	PMID:37847647

FAM3B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	41,304,242 - 41,357,727 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	41,304,212 - 41,357,727 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	42,688,728 - 42,729,654 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	41,610,531 - 41,651,524 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	21	27,886,894 - 27,927,901 (+)	NCBI		Celera
Cytogenetic Map	21	q22.3	NCBI
HuRef	21	28,157,559 - 28,198,557 (+)	NCBI		HuRef
CHM1_1	21	42,249,456 - 42,290,457 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	39,692,606 - 39,746,338 (+)	NCBI		T2T-CHM13v2.0

Fam3b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	97,272,165 - 97,306,136 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	97,272,165 - 97,316,016 (-)	Ensembl		GRCm39 Ensembl
GRCm38	16	97,470,965 - 97,504,936 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	97,470,965 - 97,514,816 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	97,692,693 - 97,726,543 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	97,575,996 - 97,659,852 (-)	NCBI		MGSCv36	mm8
Celera	16	98,531,405 - 98,565,114 (-)	NCBI		Celera
Cytogenetic Map	16	C4	NCBI
cM Map	16	57.47	NCBI

Fam3b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	50,300,926 - 50,333,296 (-)	NCBI		GRCr8
mRatBN7.2	11	36,831,532 - 36,863,902 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	36,831,532 - 36,869,713 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	45,480,008 - 45,512,453 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	38,151,386 - 38,183,828 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	37,311,313 - 37,343,761 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	37,922,308 - 37,993,279 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	37,922,292 - 37,993,207 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	41,429,763 - 41,503,454 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	37,470,404 - 37,505,705 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	37,528,141 - 37,558,745 (-)	NCBI
Celera	11	36,718,301 - 36,749,239 (-)	NCBI		Celera
Cytogenetic Map	11	q12	NCBI

Fam3b
(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_004955407	40,914,239 - 40,932,177 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955407	40,914,408 - 40,939,850 (-)	NCBI	ChiLan1.0	ChiLan1.0

FAM3B
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	22	37,396,847 - 37,438,869 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	32,251,107 - 32,293,169 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	21	27,650,185 - 27,692,249 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	21	40,979,149 - 41,020,089 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	21	40,979,149 - 41,020,089 (+)	Ensembl	panpan1.1		panPan2

FAM3B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	31	35,805,981 - 35,844,258 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	31	35,806,217 - 35,844,263 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	31	34,961,227 - 34,999,135 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	31	35,323,709 - 35,361,728 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	31	35,323,758 - 35,361,733 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	31	35,219,538 - 35,257,553 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	31	35,197,593 - 35,235,594 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	31	35,691,726 - 35,729,740 (+)	NCBI		UU_Cfam_GSD_1.0

Fam3b
(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_024404971	35,149,735 - 35,178,093 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936500	2,289,687 - 2,318,977 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936500	2,289,795 - 2,317,616 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FAM3B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	204,752,196 - 204,796,777 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	204,746,338 - 204,796,792 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	215,061,989 - 215,072,431 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FAM3B
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	85,211,126 - 85,277,034 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	85,223,553 - 85,277,839 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	13,075,832 - 13,129,760 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fam3b
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624745	28,639,087 - 28,659,627 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624745	28,638,914 - 28,658,930 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in FAM3B
21 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000050445]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	copy number loss	See cases [RCV000051022]	Chr21:41285201..46670405 [GRCh38] Chr21:42657128..48090317 [GRCh37] Chr21:41578998..46914745 [NCBI36] Chr21:21q22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	copy number loss	See cases [RCV000051047]	Chr21:37135738..42434515 [GRCh38] Chr21:38508038..43854625 [GRCh37] Chr21:37429908..42727694 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	copy number loss	See cases [RCV000052807]	Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|See cases [RCV000052836]	Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]\|See cases [RCV000052838]	Chr21:38273492..46670405 [GRCh38] Chr21:39645414..48090317 [GRCh37] Chr21:38567284..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1	copy number loss	See cases [RCV000052839]	Chr21:40127825..46670546 [GRCh38] Chr21:41499752..48090458 [GRCh37] Chr21:40421622..46914886 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053042]	Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053043]	Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3	copy number gain	See cases [RCV000053045]	Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053065]	Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053067]	Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053068]	Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053039]	Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053069]	Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	copy number gain	See cases [RCV000053040]	Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
NM_058186.3(FAM3B):c.346+147T>C	single nucleotide variant	Lung cancer [RCV000101945]	Chr21:41344681 [GRCh38] Chr21:42716608 [GRCh37] Chr21:21q22.3	uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	copy number gain	See cases [RCV000133676]	Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	copy number gain	See cases [RCV000134727]	Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	copy number gain	See cases [RCV000134509]	Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134119]	Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000135310]	Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	copy number gain	See cases [RCV000134972]	Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	copy number gain	See cases [RCV000134836]	Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134842]	Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	copy number gain	See cases [RCV000135448]	Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	copy number gain	See cases [RCV000136142]	Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	copy number loss	See cases [RCV000136828]	Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137337]	Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137255]	Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138216]	Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	copy number loss	See cases [RCV000138096]	Chr21:37669628..46671060 [GRCh38] Chr21:39041930..48090972 [GRCh37] Chr21:37963800..46915400 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	copy number gain	See cases [RCV000138164]	Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138436]	Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	copy number loss	See cases [RCV000139158]	Chr21:40296025..46670440 [GRCh38] Chr21:41667952..48090352 [GRCh37] Chr21:40589822..46914780 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000140103]	Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	copy number gain	See cases [RCV000141346]	Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000141827]	Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3	uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	copy number loss	See cases [RCV000142311]	Chr21:38816399..46677460 [GRCh38] Chr21:40188323..48097372 [GRCh37] Chr21:39110193..46921800 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	copy number loss	See cases [RCV000142427]	Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	copy number loss	See cases [RCV000142650]	Chr21:39375937..44246148 [GRCh38] Chr21:40747863..45666031 [GRCh37] Chr21:39669733..44490459 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143376]	Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	copy number gain	See cases [RCV000143160]	Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143120]	Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000148131]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	copy number loss	See cases [RCV000239948]	Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	copy number gain	See cases [RCV000239953]	Chr21:39841248..44652723 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	copy number gain	See cases [RCV000240397]	Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3	copy number gain	See cases [RCV000446716]	Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	copy number loss	See cases [RCV000446516]	Chr21:38790552..43619940 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1	copy number loss	See cases [RCV000448694]	Chr21:42410406..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	copy number gain	See cases [RCV000447884]	Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3	copy number gain	See cases [RCV000448199]	Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3	copy number gain	See cases [RCV000447729]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	See cases [RCV000447749]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	copy number loss	See cases [RCV000510684]	Chr21:38699545..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	copy number loss	See cases [RCV000511808]	Chr21:41254101..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	copy number gain	See cases [RCV000511589]	Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3	copy number gain	See cases [RCV000511842]	Chr21:42661850..43590844 [GRCh37] Chr21:21q22.3	uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	copy number loss	See cases [RCV000510798]	Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
NM_058186.4(FAM3B):c.185A>G (p.Lys62Arg)	single nucleotide variant	not specified [RCV004295965]	Chr21:41338399 [GRCh38] Chr21:42710326 [GRCh37] Chr21:21q22.3	uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	copy number loss	not provided [RCV000684165]	Chr21:42335622..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q22.3(chr21:42714287-42943077)x1	copy number loss	not provided [RCV000848855]	Chr21:42714287..42943077 [GRCh37] Chr21:21q22.3	uncertain significance
NC_000021.9:g.(?_38981673)_(41568791_?)del	deletion	Autism [RCV000754228]	Chr21:38981673..41568791 [GRCh38] Chr21:21q22.2-22.3	likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3	copy number gain	not provided [RCV000741419]	Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1	copy number loss	not provided [RCV000741567]	Chr21:40364245..44169928 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3	copy number gain	not provided [RCV000741413]	Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3	copy number gain	not provided [RCV000741415]	Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3	copy number gain	not provided [RCV000741418]	Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
NM_058186.4(FAM3B):c.123C>G (p.Ala41=)	single nucleotide variant	not provided [RCV000948093]	Chr21:41323026 [GRCh38] Chr21:42694953 [GRCh37] Chr21:21q22.3	benign
NM_058186.4(FAM3B):c.163+10G>A	single nucleotide variant	not provided [RCV000882668]	Chr21:41323076 [GRCh38] Chr21:42695003 [GRCh37] Chr21:21q22.3	benign
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	copy number loss	not provided [RCV000767626]	Chr21:41537095..46914745 [GRCh37] Chr21:21q22.2-22.3	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787405]	Chr21:42300424..43682911 [GRCh37] Chr21:21q22.2-22.3	uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	copy number loss	not provided [RCV001007132]	Chr21:39410438..45171756 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV000846937]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_058186.4(FAM3B):c.48C>T (p.Phe16=)	single nucleotide variant	not provided [RCV000887208]	Chr21:41322951 [GRCh38] Chr21:42694878 [GRCh37] Chr21:21q22.3	benign
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	copy number gain	See cases [RCV001007433]	Chr21:42044877..48100155 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q22.3(chr21:42662220-42799124)x1	copy number loss	not provided [RCV001259414]	Chr21:42662220..42799124 [GRCh37] Chr21:21q22.3	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Down syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	copy number gain	See cases [RCV001263025]	Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372)	copy number loss	Delayed speech and language development [RCV002280704]	Chr21:42679089..48097372 [GRCh37] Chr21:21q22.3	pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	copy number gain	See cases [RCV001780078]	Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	copy number gain	not specified [RCV002052725]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	copy number loss	not specified [RCV002052739]	Chr21:42410406..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	copy number gain	not specified [RCV002052724]	Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV001829203]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	copy number loss	not provided [RCV002472503]	Chr21:42046399..45109188 [GRCh37] Chr21:21q22.2-22.3	pathogenic
NM_058186.4(FAM3B):c.619A>T (p.Ile207Phe)	single nucleotide variant	not specified [RCV004069155]	Chr21:41357108 [GRCh38] Chr21:42729035 [GRCh37] Chr21:21q22.3	uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	copy number loss	not provided [RCV003483381]	Chr21:40681179..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	copy number gain	not provided [RCV003485218]	Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	copy number gain	not provided [RCV003485222]	Chr21:33015681..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	copy number gain	not provided [RCV003485224]	Chr21:40965330..43116823 [GRCh37] Chr21:21q22.2-22.3	uncertain significance
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	copy number gain	not specified [RCV003986149]	Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	copy number gain	not specified [RCV003986160]	Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	copy number loss	not specified [RCV003986157]	Chr21:35872675..48097372 [GRCh37] Chr21:21q22.12-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	copy number gain	not specified [RCV003986158]	Chr21:34092685..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	copy number gain	not specified [RCV003986152]	Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	copy number gain	not provided [RCV004577449]	Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_058186.4(FAM3B):c.584G>T (p.Gly195Val)	single nucleotide variant	not specified [RCV004625532]	Chr21:41348690 [GRCh38] Chr21:42720617 [GRCh37] Chr21:21q22.3	uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3	copy number gain	not provided [RCV004819321]	Chr21:34586759..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_058186.4(FAM3B):c.655G>T (p.Gly219Cys)	single nucleotide variant	not specified [RCV004923348]	Chr21:41357144 [GRCh38] Chr21:42729071 [GRCh37] Chr21:21q22.3	uncertain significance
NM_058186.4(FAM3B):c.656G>A (p.Gly219Asp)	single nucleotide variant	not specified [RCV004923347]	Chr21:41357145 [GRCh38] Chr21:42729072 [GRCh37] Chr21:21q22.3	uncertain significance
NM_058186.4(FAM3B):c.566T>C (p.Val189Ala)	single nucleotide variant	not specified [RCV004625533]	Chr21:41348672 [GRCh38] Chr21:42720599 [GRCh37] Chr21:21q22.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	675
Count of miRNA genes:	325
Interacting mature miRNAs:	337
Transcripts:	ENST00000357985, ENST00000398646, ENST00000398647, ENST00000398652, ENST00000479810, ENST00000518236
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597211992	GWAS1308066_H	self reported educational attainment QTL GWAS1308066 (human)		3e-08	self reported educational attainment		21	41317004	41317005	Human
597170072	GWAS1266146_H	protein FAM3B measurement QTL GWAS1266146 (human)		4e-22	protein FAM3B measurement		21	41322943	41322944	Human
597301339	GWAS1397413_H	protein FAM3B measurement QTL GWAS1397413 (human)		3e-50	protein FAM3B measurement		21	41322740	41322741	Human
597026134	GWAS1122208_H	blood protein measurement QTL GWAS1122208 (human)		3e-43	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	21	41345234	41345235	Human
597497438	GWAS1593512_H	protein FAM3B measurement QTL GWAS1593512 (human)		5e-66	protein FAM3B measurement		21	41346335	41346336	Human
597301340	GWAS1397414_H	protein FAM3B measurement QTL GWAS1397414 (human)		3e-30	protein FAM3B measurement		21	41322943	41322944	Human
597474906	GWAS1570980_H	blood protein measurement QTL GWAS1570980 (human)		2e-100	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	21	41346335	41346336	Human
597301202	GWAS1397276_H	protein FAM3B measurement QTL GWAS1397276 (human)		3e-32	protein FAM3B measurement		21	41322740	41322741	Human
597301203	GWAS1397277_H	protein FAM3B measurement QTL GWAS1397277 (human)		8e-26	protein FAM3B measurement		21	41322943	41322944	Human
2303081	MAMTS49_H	Mammary tumor susceptibility QTL 49 (human)	1.72		Mammary tumor susceptibility		21	17950448	43950448	Human
597301204	GWAS1397278_H	protein FAM3B measurement QTL GWAS1397278 (human)		4e-78	protein FAM3B measurement		21	41349942	41349943	Human
597170071	GWAS1266145_H	protein FAM3B measurement QTL GWAS1266145 (human)		1e-89	protein FAM3B measurement		21	41322740	41322741	Human
597272265	GWAS1368339_H	protein FAM3B measurement QTL GWAS1368339 (human)		6e-33	protein FAM3B measurement		21	41322740	41322741	Human
597272267	GWAS1368341_H	protein FAM3B measurement QTL GWAS1368341 (human)		5e-22	protein FAM3B measurement		21	41317710	41317711	Human
597252171	GWAS1348245_H	urate measurement, spine bone mineral density QTL GWAS1348245 (human)		0.000008	urate measurement, spine bone mineral density	bone mineral density (CMO:0001226)	21	41342161	41342162	Human
597272266	GWAS1368340_H	protein FAM3B measurement QTL GWAS1368340 (human)		8e-27	protein FAM3B measurement		21	41343548	41343549	Human
407022942	GWAS671918_H	cancer biomarker measurement QTL GWAS671918 (human)		3e-22	cancer biomarker measurement		21	41326980	41326981	Human
597173113	GWAS1269187_H	protein FAM3B measurement QTL GWAS1269187 (human)		1e-31	protein FAM3B measurement		21	41343548	41343549	Human
597173114	GWAS1269188_H	protein FAM3B measurement QTL GWAS1269188 (human)		3e-137	protein FAM3B measurement		21	41349180	41349181	Human
597173115	GWAS1269189_H	protein FAM3B measurement QTL GWAS1269189 (human)		6e-54	protein FAM3B measurement		21	41322943	41322944	Human
597119540	GWAS1215614_H	blood protein measurement QTL GWAS1215614 (human)		2e-42	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	21	41322943	41322944	Human
597401720	GWAS1497794_H	protein FAM3B measurement QTL GWAS1497794 (human)		6e-133	protein FAM3B measurement		21	41346335	41346336	Human
597119539	GWAS1215613_H	blood protein measurement QTL GWAS1215613 (human)		5e-35	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	21	41325787	41325788	Human
597272048	GWAS1368122_H	protein FAM3B measurement QTL GWAS1368122 (human)		4e-12	protein FAM3B measurement		21	41356506	41356507	Human
597429552	GWAS1525626_H	protein measurement QTL GWAS1525626 (human)		7e-800	protein measurement		21	41317710	41317711	Human
406975020	GWAS623996_H	serum carcinoembryonic antigen measurement QTL GWAS623996 (human)		2e-08	serum carcinoembryonic antigen measurement		21	41326980	41326981	Human
597483372	GWAS1579446_H	protein FAM3B measurement QTL GWAS1579446 (human)		2e-39	protein FAM3B measurement		21	41346335	41346336	Human
597272043	GWAS1368117_H	protein FAM3B measurement QTL GWAS1368117 (human)		6e-17	protein FAM3B measurement		21	41325294	41325295	Human
596981664	GWAS1101183_H	memory performance QTL GWAS1101183 (human)		0.000009	memory performance		21	41317356	41317357	Human
597272047	GWAS1368121_H	protein FAM3B measurement QTL GWAS1368121 (human)		1e-12	protein FAM3B measurement		21	41345631	41345632	Human
597431908	GWAS1527982_H	protein measurement QTL GWAS1527982 (human)		4e-710	protein measurement		21	41317710	41317711	Human
597181155	GWAS1277229_H	protein measurement QTL GWAS1277229 (human)		2e-12	protein measurement		21	41317710	41317711	Human
597135080	GWAS1231154_H	memory performance QTL GWAS1231154 (human)		0.000009	memory performance		21	41317356	41317357	Human
597442787	GWAS1538861_H	protein FAM3B measurement QTL GWAS1538861 (human)		2e-52	protein FAM3B measurement		21	41346335	41346336	Human

SHGC-52452

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	42,700,122 - 42,700,353	UniSTS	GRCh37
Build 36	21	41,621,992 - 41,622,223	RGD	NCBI36
Celera	21	27,898,355 - 27,898,586	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	28,169,020 - 28,169,251	UniSTS
GeneMap99-G3 RH Map	21	1428.0	UniSTS

D21S64

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	42,723,966 - 42,724,131	UniSTS	GRCh37
Build 36	21	41,645,836 - 41,646,001	RGD	NCBI36
Celera	21	27,922,200 - 27,922,365	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	28,192,857 - 28,193,022	UniSTS

SHGC-132814

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	42,700,006 - 42,700,279	UniSTS	GRCh37
Build 36	21	41,621,876 - 41,622,149	RGD	NCBI36
Celera	21	27,898,239 - 27,898,512	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	28,168,904 - 28,169,177	UniSTS
TNG Radiation Hybrid Map	21	16306.0	UniSTS

D21S1224

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	42,727,931 - 42,728,078	UniSTS	GRCh37
Build 36	21	41,649,801 - 41,649,948	RGD	NCBI36
Celera	21	27,926,178 - 27,926,325	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	28,196,834 - 28,196,981	UniSTS
Stanford-G3 RH Map	21	1428.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1199	2390	2594	2171	4471	1663	2231	4	601	1479	440	2238	6445	5880	34	3286	1	806	1679	1521	169	1


RefSeq Transcripts	NM_058186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_206964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529649	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054324688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054324689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_937526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF375989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF494379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ409094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL773578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY040086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC057829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF514643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI712971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS488895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000357985 ⟹ ENSP00000350673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	41,316,801 - 41,357,727 (+)	Ensembl

Ensembl Acc Id:

ENST00000398646 ⟹ ENSP00000381641

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	41,322,820 - 41,357,431 (+)	Ensembl

Ensembl Acc Id:

ENST00000398647 ⟹ ENSP00000381642

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	41,316,814 - 41,357,431 (+)	Ensembl

Ensembl Acc Id:

ENST00000398652 ⟹ ENSP00000381646

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	41,316,814 - 41,357,431 (+)	Ensembl

Ensembl Acc Id:

ENST00000479810

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	41,304,212 - 41,357,431 (+)	Ensembl

Ensembl Acc Id:

ENST00000518236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	41,304,250 - 41,346,349 (+)	Ensembl

RefSeq Acc Id:

NM_058186 ⟹ NP_478066

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,316,801 - 41,357,727 (+)	NCBI
GRCh37	21	42,688,661 - 42,729,654 (+)	RGD
Build 36	21	41,610,531 - 41,651,524 (+)	NCBI Archive
Celera	21	27,886,894 - 27,927,901 (+)	RGD
HuRef	21	28,157,559 - 28,198,557 (+)	ENTREZGENE
CHM1_1	21	42,249,456 - 42,290,457 (+)	NCBI
T2T-CHM13v2.0	21	39,705,395 - 39,746,338 (+)	NCBI

Sequence:

show sequence

CTTCCTGACCCAGGGGCTCCGCTGGCTGCGGTCGCCTGGGAGCTGCCGCCAGGGCCAGGAGGGGAGCGGCACCTGGAAGATGCGCCCATTGGCTGGTGGCCTGCTCAAGGTGGTGTTCGTGGTCTTCG
CCTCCTTGTGTGCCTGGTATTCGGGGTACCTGCTCGCAGAGCTCATTCCAGATGCACCCCTGTCCAGTGCTGCCTATAGCATCCGCAGCATCGGGGAGAGGCCTGTCCTCAAAGCTCCAGTCCCCAAA
AGGCAAAAATGTGACCACTGGACTCCCTGCCCATCTGACACCTATGCCTACAGGTTACTCAGCGGAGGTGGCAGAAGCAAGTACGCCAAAATCTGCTTTGAGGATAACCTACTTATGGGAGAACAGCT
GGGAAATGTTGCCAGAGGAATAAACATTGCCATTGTCAACTATGTAACTGGGAATGTGACAGCAACACGATGTTTTGATATGTATGAAGGTGATAACTCTGGACCGATGACAAAGTTTATTCAGAGTG
CTGCTCCAAAATCCCTGCTCTTCATGGTGACCTATGACGACGGAAGCACAAGACTGAATAACGATGCCAAGAATGCCATAGAAGCACTTGGAAGTAAAGAAATCAGGAACATGAAATTCAGGTCTAGC
TGGGTATTTATTGCAGCAAAAGGCTTGGAACTCCCTTCCGAAATTCAGAGAGAAAAGATCAACCACTCTGATGCTAAGAACAACAGATATTCTGGCTGGCCTGCAGAGATCCAGATAGAAGGCTGCAT
ACCCAAAGAACGAAGCTGACACTGCAGGGTCCTGAGTAAATGTGTTCTGTATAAACAAATGCAGCTGGAATCGCTCAAGAATCTTATTTTTCTAAATCCAACAGCCCATATTTGATGAGTATTTTGGG
TTTGTTGTAAACCAATGAACATTTGCTAGTTGTATCAAATCTTGGTACGCAGTATTTTTATACCAGTATTTTATGTAGTGAAGATGTCAATTAGCAGGAAACTAAAATGAATGGAAATTCTTAAAGGG
AATGATGTGATTCAAGCTGGAAAGAGGGTTGGGAGAAACAGCTTGTCCAGGTGGAGCTATGTTATGATCAGATCGAAGTGTGACCCCTGTGTGGTCCAGACAGCCCTGCAGAGAGAAAACCTTTATTC
CATTATCACCAAGCACCTCCTAGTTTCCGACAGTCATCTCCTTCTGCTGGGAGAATTAGCAGCAGTTCAGGGGGCTTATGTTATGTCCTTGTTCAACTCAACTTGAGCTCTTGAACTCCTCCTGTGGG
CCTGTGAATGTATTCATTCATTCCACAACTCTGGGTG

hide sequence

RefSeq Acc Id:

NM_206964 ⟹ NP_996847

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,316,801 - 41,357,727 (+)	NCBI
GRCh37	21	42,688,661 - 42,729,654 (+)	RGD
Build 36	21	41,610,531 - 41,651,524 (+)	NCBI Archive
Celera	21	27,886,894 - 27,927,901 (+)	RGD
HuRef	21	28,157,559 - 28,198,557 (+)	ENTREZGENE
CHM1_1	21	42,249,456 - 42,290,457 (+)	NCBI
T2T-CHM13v2.0	21	39,705,395 - 39,746,338 (+)	NCBI

Sequence:

show sequence

CTTCCTGACCCAGGGGCTCCGCTGGCTGCGGTCGCCTGGGAGCTGCCGCCAGGGCCAGGAGGGG
AGCGGCACCTGGAAGATGCGCCCATTGGCTGGTGCTCCAGTCCCCAAAAGGCAAAAATGTGACCACTGGACTCCCTGCCCATCTGACACCTATGCCTACAGGTTACTCAGCGGAGGTGGCAGAAGCAA
GTACGCCAAAATCTGCTTTGAGGATAACCTACTTATGGGAGAACAGCTGGGAAATGTTGCCAGAGGAATAAACATTGCCATTGTCAACTATGTAACTGGGAATGTGACAGCAACACGATGTTTTGATA
TGTATGAAGGTGATAACTCTGGACCGATGACAAAGTTTATTCAGAGTGCTGCTCCAAAATCCCTGCTCTTCATGGTGACCTATGACGACGGAAGCACAAGACTGAATAACGATGCCAAGAATGCCATA
GAAGCACTTGGAAGTAAAGAAATCAGGAACATGAAATTCAGGTCTAGCTGGGTATTTATTGCAGCAAAAGGCTTGGAACTCCCTTCCGAAATTCAGAGAGAAAAGATCAACCACTCTGATGCTAAGAA
CAACAGATATTCTGGCTGGCCTGCAGAGATCCAGATAGAAGGCTGCATACCCAAAGAACGAAGCTGACACTGCAGGGTCCTGAGTAAATGTGTTCTGTATAAACAAATGCAGCTGGAATCGCTCAAGA
ATCTTATTTTTCTAAATCCAACAGCCCATATTTGATGAGTATTTTGGGTTTGTTGTAAACCAATGAACATTTGCTAGTTGTATCAAATCTTGGTACGCAGTATTTTTATACCAGTATTTTATGTAGTG
AAGATGTCAATTAGCAGGAAACTAAAATGAATGGAAATTCTTAAAGGGAATGATGTGATTCAAGCTGGAAAGAGGGTTGGGAGAAACAGCTTGTCCAGGTGGAGCTATGTTATGATCAGATCGAAGTG
TGACCCCTGTGTGGTCCAGACAGCCCTGCAGAGAGAAAACCTTTATTCCATTATCACCAAGCACCTCCTAGTTTCCGACAGTCATCTCCTTCTGCTGGGAGAATTAGCAGCAGTTCAGGGGGCTTATG
TTATGTCCTTGTTCAACTCAACTTGAGCTCTTGAACTCCTCCTGTGGGCCTGTGAATGTATTCATTCATTCCACAACTCTGGGTG

hide sequence

RefSeq Acc Id:

XM_011529648 ⟹ XP_011527950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,320,822 - 41,357,727 (+)	NCBI

Sequence:

show sequence

GCCATCCCTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGAGCCCAGCCGAAATTTCTATTGTTGAAGCCACCCAGTTGGTGTTAATTTGTTACAGCAGCCTGAGGAAATGAT
GCTGCCTGCCTGGATTTTGTCTGTCACCTCCTGGCTACTATGTCCTGCCCTCCCTCTAGCGGCTGGGATACTTCCATGACTTTGTGCTAGACCTGAGCACAGGCTGCTGGTTCAGCTCATCACCCATC
TTCTGATGATGTCCCGATCCCAGTGCTGGCGGCTGGATCTGCCTCCCACCCAGGAGGTGGTTCAGACTCTAGATCATGGCTTCTCCCAGCCAGCTGCATGCTGCACTCCAGATTGTCCCCAGCCTAGA
GGTCATTGGATGCATCCCTCACCCAAAGCACAGATACTCTCTAGTCTTCCTGGGAGTCCTGAAAAGTGTCCCGGAAGAGAGCTCCCTGCCGCATCAGGACCCGCCATGGGCTACCCTTCTTCTTGCCT
GCTCAAGGTGGTGTTCGTGGTCTTCGCCTCCTTGTGTGCCTGGTATTCGGGGTACCTGCTCGCAGAGCTCATTCCAGATGCACCCCTGTCCAGTGCTGCCTATAGCATCCGCAGCATCGGGGAGAGGC
CTGTCCTCAAAGCTCCAGTCCCCAAAAGGCAAAAATGTGACCACTGGACTCCCTGCCCATCTGACACCTATGCCTACAGGTTACTCAGCGGAGGTGGCAGAAGCAAGTACGCCAAAATCTGCTTTGAG
GATAACCTACTTATGGGAGAACAGCTGGGAAATGTTGCCAGAGGAATAAACATTGCCATTGTCAACTATGTAACTGGGAATGTGACAGCAACACGATGTTTTGATATGTATGAAGGTGATAACTCTGG
ACCGATGACAAAGTTTATTCAGAGTGCTGCTCCAAAATCCCTGCTCTTCATGGTGACCTATGACGACGGAAGCACAAGACTGAATAACGATGCCAAGAATGCCATAGAAGCACTTGGAAGTAAAGAAA
TCAGGAACATGAAATTCAGGTCTAGCTGGGTATTTATTGCAGCAAAAGGCTTGGAACTCCCTTCCGAAATTCAGAGAGAAAAGATCAACCACTCTGATGCTAAGAACAACAGATATTCTGGCTGGCCT
GCAGAGATCCAGATAGAAGGCTGCATACCCAAAGAACGAAGCTGACACTGCAGGGTCCTGAGTAAATGTGTTCTGTATAAACAAATGCAGCTGGAATCGCTCAAGAATCTTATTTTTCTAAATCCAAC
AGCCCATATTTGATGAGTATTTTGGGTTTGTTGTAAACCAATGAACATTTGCTAGTTGTATCAAATCTTGGTACGCAGTATTTTTATACCAGTATTTTATGTAGTGAAGATGTCAATTAGCAGGAAAC
TAAAATGAATGGAAATTCTTAAAGGGAATGATGTGATTCAAGCTGGAAAGAGGGTTGGGAGAAACAGCTTGTCCAGGTGGAGCTATGTTATGATCAGATCGAAGTGTGACCCCTGTGTGGTCCAGACA
GCCCTGCAGAGAGAAAACCTTTATTCCATTATCACCAAGCACCTCCTAGTTTCCGACAGTCATCTCCTTCTGCTGGGAGAATTAGCAGCAGTTCAGGGGGCTTATGTTATGTCCTTGTTCAACTCAAC
TTGAGCTCTTGAACTCCTCC

hide sequence

RefSeq Acc Id:

XM_011529649 ⟹ XP_011527951

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,304,242 - 41,357,727 (+)	NCBI

Sequence:

show sequence

GCCTGGCTGGGCTCGGCGGGCATGGCTGGGGCACCCTGGCGCCATCTTTTTCCACCGTGCGAAG
GCAGGAGCCCGAGACTGGGCCTGCTCAAGGTGGTGTTCGTGGTCTTCGCCTCCTTGTGTGCCTGGTATTCGGGGTACCTGCTCGCAGAGCTCATTCCAGATGCACCCCTGTCCAGTGCTGCCTATAGC
ATCCGCAGCATCGGGGAGAGGCCTGTCCTCAAAGCTCCAGTCCCCAAAAGGCAAAAATGTGACCACTGGACTCCCTGCCCATCTGACACCTATGCCTACAGGTTACTCAGCGGAGGTGGCAGAAGCAA
GTACGCCAAAATCTGCTTTGAGGATAACCTACTTATGGGAGAACAGCTGGGAAATGTTGCCAGAGGAATAAACATTGCCATTGTCAACTATGTAACTGGGAATGTGACAGCAACACGATGTTTTGATA
TGTATGAAGGTGATAACTCTGGACCGATGACAAAGTTTATTCAGAGTGCTGCTCCAAAATCCCTGCTCTTCATGGTGACCTATGACGACGGAAGCACAAGACTGAATAACGATGCCAAGAATGCCATA
GAAGCACTTGGAAGTAAAGAAATCAGGAACATGAAATTCAGGTCTAGCTGGGTATTTATTGCAGCAAAAGGCTTGGAACTCCCTTCCGAAATTCAGAGAGAAAAGATCAACCACTCTGATGCTAAGAA
CAACAGATATTCTGGCTGGCCTGCAGAGATCCAGATAGAAGGCTGCATACCCAAAGAACGAAGCTGACACTGCAGGGTCCTGAGTAAATGTGTTCTGTATAAACAAATGCAGCTGGAATCGCTCAAGA
ATCTTATTTTTCTAAATCCAACAGCCCATATTTGATGAGTATTTTGGGTTTGTTGTAAACCAATGAACATTTGCTAGTTGTATCAAATCTTGGTACGCAGTATTTTTATACCAGTATTTTATGTAGTG
AAGATGTCAATTAGCAGGAAACTAAAATGAATGGAAATTCTTAAAGGGAATGATGTGATTCAAGCTGGAAAGAGGGTTGGGAGAAACAGCTTGTCCAGGTGGAGCTATGTTATGATCAGATCGAAGTG
TGACCCCTGTGTGGTCCAGACAGCCCTGCAGAGAGAAAACCTTTATTCCATTATCACCAAGCACCTCCTAGTTTCCGACAGTCATCTCCTTCTGCTGGGAGAATTAGCAGCAGTTCAGGGGGCTTATG
TTATGTCCTTGTTCAACTCAACTTGAGCTCTTGAACTCCTCC

hide sequence

RefSeq Acc Id:

XM_054324688 ⟹ XP_054180663

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	21	39,709,416 - 39,746,338 (+)	NCBI

RefSeq Acc Id:

XM_054324689 ⟹ XP_054180664

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	21	39,692,606 - 39,746,338 (+)	NCBI

RefSeq Acc Id:

XR_007067791

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,320,337 - 41,347,100 (+)	NCBI

RefSeq Acc Id:

XR_008485341

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	21	39,708,931 - 39,735,699 (+)	NCBI


Protein RefSeqs	NP_478066	(Get FASTA)	NCBI Sequence Viewer
	NP_996847	(Get FASTA)	NCBI Sequence Viewer
	XP_011527950	(Get FASTA)	NCBI Sequence Viewer
	XP_011527951	(Get FASTA)	NCBI Sequence Viewer
	XP_054180663	(Get FASTA)	NCBI Sequence Viewer
	XP_054180664	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH57829	(Get FASTA)	NCBI Sequence Viewer
	AAK74134	(Get FASTA)	NCBI Sequence Viewer
	AAL34495	(Get FASTA)	NCBI Sequence Viewer
	AAM94280	(Get FASTA)	NCBI Sequence Viewer
	AAQ88824	(Get FASTA)	NCBI Sequence Viewer
	BAH13625	(Get FASTA)	NCBI Sequence Viewer
	CAC83974	(Get FASTA)	NCBI Sequence Viewer
	CAM55969	(Get FASTA)	NCBI Sequence Viewer
	EAX09608	(Get FASTA)	NCBI Sequence Viewer
	EAX09609	(Get FASTA)	NCBI Sequence Viewer
	EAX09610	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350673
	ENSP00000350673.2
	ENSP00000381641
	ENSP00000381642
	ENSP00000381642.3
	ENSP00000381646.3
GenBank Protein	P58499	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_478066 ⟸ NM_058186
- Peptide Label:	isoform a precursor
- UniProtKB:	P58499 (UniProtKB/Swiss-Prot), A8MTF8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRPLAGGLLKVVFVVFASLCAWYSGYLLAELIPDAPLSSAAYSIRSIGERPVLKAPVPKRQKCDHWTPCPSDTYAYRLLSGGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFD MYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGSTRLNNDAKNAIEALGSKEIRNMKFRSSWVFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQIEGCIPKERS hide sequence

RefSeq Acc Id:	NP_996847 ⟸ NM_206964
- Peptide Label:	isoform b
- UniProtKB:	P58499 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRPLAGAPVPKRQKCDHWTPCPSDTYAYRLLSGGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFDMYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGSTRLNNDAKNAIEALGS KEIRNMKFRSSWVFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQIEGCIPKERS hide sequence

RefSeq Acc Id:	XP_011527951 ⟸ XM_011529649
- Peptide Label:	isoform X2
- UniProtKB:	A8MTF8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAGAPWRHLFPPCEGRSPRLGLLKVVFVVFASLCAWYSGYLLAELIPDAPLSSAAYSIRSIGER PVLKAPVPKRQKCDHWTPCPSDTYAYRLLSGGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFDMYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGSTRLNNDAKNAIEALGSKE IRNMKFRSSWVFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQIEGCIPKERS hide sequence

RefSeq Acc Id:	XP_011527950 ⟸ XM_011529648
- Peptide Label:	isoform X1
- UniProtKB:	A8MTF8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MMSRSQCWRLDLPPTQEVVQTLDHGFSQPAACCTPDCPQPRGHWMHPSPKAQILSSLPGSPEKC PGRELPAASGPAMGYPSSCLLKVVFVVFASLCAWYSGYLLAELIPDAPLSSAAYSIRSIGERPVLKAPVPKRQKCDHWTPCPSDTYAYRLLSGGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNY VTGNVTATRCFDMYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGSTRLNNDAKNAIEALGSKEIRNMKFRSSWVFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQIEGCIPKERS hide sequence

Ensembl Acc Id:

ENSP00000381646 ⟸ ENST00000398652

Protein Domains

GG-type lectin ILEI/PANDER

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P58499-F1-model_v2	AlphaFold	P58499	1-235	view protein structure

RGD ID:

13602872

Promoter ID:

EPDNEW_H27620

Type:

initiation region

Name:

FAM3B_1

Description:

family with sequence similarity 3 member B

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H27621

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,316,638 - 41,316,698	EPDNEW

RGD ID:

13602874

Promoter ID:

EPDNEW_H27621

Type:

initiation region

Name:

FAM3B_2

Description:

family with sequence similarity 3 member B

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H27620

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	41,316,821 - 41,316,881	EPDNEW

Database	Acc Id	Source(s)
COSMIC	FAM3B	COSMIC
Ensembl Genes	ENSG00000183844	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000357985	ENTREZGENE
	ENST00000357985.7	UniProtKB/Swiss-Prot
	ENST00000398646	ENTREZGENE
	ENST00000398647	ENTREZGENE
	ENST00000398647.7	UniProtKB/Swiss-Prot
	ENST00000398652.7	UniProtKB/Swiss-Prot
GTEx	ENSG00000183844	GTEx
HGNC ID	HGNC:1253	ENTREZGENE
Human Proteome Map	FAM3B	Human Proteome Map
InterPro	FAM3	UniProtKB/Swiss-Prot
	ILEI/PANDER_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:54097	UniProtKB/Swiss-Prot
NCBI Gene	54097	ENTREZGENE
OMIM	608617	OMIM
PANTHER	PTHR14592	UniProtKB/Swiss-Prot
Pfam	ILEI	UniProtKB/Swiss-Prot
PharmGKB	PA27979	PharmGKB
PROSITE	GG_LECTIN	UniProtKB/Swiss-Prot
UniProt	A8MTF8	ENTREZGENE, UniProtKB/TrEMBL
	FAM3B_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-09-24	FAM3B	FAM3 metabolism regulating signaling molecule B	FAM3B	family with sequence similarity 3 member B	Symbol and/or name change	5135510	APPROVED
2015-11-24	FAM3B	family with sequence similarity 3 member B		family with sequence similarity 3, member B	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar

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