FAM216B (family with sequence similarity 216 member B)

Gene: FAM216B (family with sequence similarity 216 member B) Homo sapiens

Analyze

Symbol:

FAM216B

Name:

family with sequence similarity 216 member B

RGD ID:

1605573

HGNC Page

HGNC:26883

Description:

INTERACTS WITH benzo[a]pyrene; 4,4'-sulfonyldiphenol (ortholog); 4-hydroxyphenyl retinamide (ortholog)

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C13orf30; family with sequence similarity 216, member B; FLJ40919; hypothetical protein LOC144809; MGC138442; uncharacterized protein C13orf30

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	13	42,781,584 - 42,791,549 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	42,781,550 - 42,791,549 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	43,355,720 - 43,365,685 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	42,253,751 - 42,263,683 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	13	24,413,479 - 24,423,481 (+)	NCBI		Celera
Cytogenetic Map	13	q14.11	NCBI
HuRef	13	24,159,497 - 24,169,506 (+)	NCBI		HuRef
CHM1_1	13	43,323,249 - 43,333,247 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	13	42,001,615 - 42,011,583 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acrylamide (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

carbon nanotube (ISO)

Cuprizon (ISO)

ozone (ISO)

rotenone (ISO)

sulforaphane (ISO)

titanium dioxide (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16344560	PMID:29987050

Genomics

Comparative Map Data

FAM216B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	42,781,584 - 42,791,549 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	42,781,550 - 42,791,549 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	43,355,720 - 43,365,685 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	42,253,751 - 42,263,683 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	13	24,413,479 - 24,423,481 (+)	NCBI		Celera
Cytogenetic Map	13	q14.11	NCBI
HuRef	13	24,159,497 - 24,169,506 (+)	NCBI		HuRef
CHM1_1	13	43,323,249 - 43,333,247 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	13	42,001,615 - 42,011,583 (+)	NCBI		T2T-CHM13v2.0

Fam216b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	78,318,464 - 78,326,447 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	78,318,461 - 78,326,447 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	78,081,024 - 78,089,007 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	78,081,021 - 78,089,007 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	78,480,831 - 78,488,814 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	76,815,179 - 76,823,162 (-)	NCBI		MGSCv36	mm8
Celera	14	75,599,610 - 75,607,598 (-)	NCBI		Celera
Cytogenetic Map	14	D3	NCBI
cM Map	14	41.15	NCBI

Fam216b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	59,878,665 - 59,905,887 (-)	NCBI		GRCr8
mRatBN7.2	15	53,469,495 - 53,482,385 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	53,469,599 - 53,482,398 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	15	60,276,530 - 60,303,880 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	60,277,100 - 60,289,763 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	63,952,512 - 63,977,061 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	59,176,218 - 59,189,871 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	15	53,065,007 - 53,093,028 (-)	NCBI		Celera
Cytogenetic Map	15	q11	NCBI

Fam216b
(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	NW_004955518	676,141 - 695,316 (+)	NCBI	ChiLan1.0	ChiLan1.0

FAM216B
(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	14	42,268,908 - 42,276,335 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	13	33,372,568 - 33,382,562 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	13	23,953,749 - 23,963,749 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

FAM216B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	22	8,054,212 - 8,122,444 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	22	8,047,223 - 8,075,320 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	22	8,046,396 - 8,114,618 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	22	8,259,238 - 8,333,359 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	22	8,252,542 - 8,266,718 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	22	7,964,918 - 8,032,629 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	22	8,021,883 - 8,089,802 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	22	8,032,442 - 8,100,678 (-)	NCBI		UU_Cfam_GSD_1.0

FAM216B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	11	24,312,395 - 24,321,904 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	24,312,382 - 24,321,943 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	11	24,964,580 - 24,972,916 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FAM216B
(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	3	20,925,040 - 20,931,883 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666057	23,274,343 - 23,281,730 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fam216b
(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_004624748	12,351,968 - 12,359,401 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624748	12,352,641 - 12,359,397 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FAM216B
7 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	copy number gain	See cases [RCV000050293]	Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3	pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	copy number loss	See cases [RCV000051373]	Chr13:30697728..69471973 [GRCh38] Chr13:31271865..70046105 [GRCh37] Chr13:30169865..68944106 [NCBI36] Chr13:13q12.3-21.33	pathogenic
GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]\|See cases [RCV000051377]	Chr13:38558617..47502862 [GRCh38] Chr13:39132754..48076997 [GRCh37] Chr13:38030754..46974998 [NCBI36] Chr13:13q13.3-14.2	pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	copy number gain	See cases [RCV000053726]	Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000053731]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	copy number gain	See cases [RCV000053737]	Chr13:30318913..83610426 [GRCh38] Chr13:30893050..84184561 [GRCh37] Chr13:29791050..83082562 [NCBI36] Chr13:13q12.3-31.1	pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	copy number gain	See cases [RCV000053719]	Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	copy number gain	See cases [RCV000053723]	Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	copy number gain	See cases [RCV000053759]	Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34	pathogenic
GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	copy number gain	See cases [RCV000053761]	Chr13:40799505..44006174 [GRCh38] Chr13:41373641..44580310 [GRCh37] Chr13:40271641..43478310 [NCBI36] Chr13:13q14.11	pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	copy number loss	See cases [RCV000133696]	Chr13:36777318..62955876 [GRCh38] Chr13:37351455..63530009 [GRCh37] Chr13:36249455..62428010 [NCBI36] Chr13:13q13.3-21.31	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	copy number gain	See cases [RCV000134104]	Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	copy number gain	See cases [RCV000133944]	Chr13:41288493..85137552 [GRCh38] Chr13:41862629..85711687 [GRCh37] Chr13:40760629..84609688 [NCBI36] Chr13:13q14.11-31.1	pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	copy number gain	See cases [RCV000135808]	Chr13:31553608..65470367 [GRCh38] Chr13:32127745..66044499 [GRCh37] Chr13:31025745..64942500 [NCBI36] Chr13:13q12.3-21.32	pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	copy number loss	See cases [RCV000135610]	Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	copy number loss	See cases [RCV000136526]	Chr13:41143820..85137552 [GRCh38] Chr13:41717956..85711687 [GRCh37] Chr13:40615956..84609688 [NCBI36] Chr13:13q14.11-31.1	pathogenic
GRCh38/hg38 13q14.11(chr13:42703535-43413099)x4	copy number gain	See cases [RCV000136539]	Chr13:42703535..43413099 [GRCh38] Chr13:43277671..43987235 [GRCh37] Chr13:42175671..42885235 [NCBI36] Chr13:13q14.11	uncertain significance
GRCh38/hg38 13q14.11(chr13:42786307-43325066)x3	copy number gain	See cases [RCV000138128]	Chr13:42786307..43325066 [GRCh38] Chr13:43360443..43899202 [GRCh37] Chr13:42258443..42797202 [NCBI36] Chr13:13q14.11	uncertain significance
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	copy number loss	See cases [RCV000137893]	Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	copy number loss	See cases [RCV000138723]	Chr13:31018160..48491204 [GRCh38] Chr13:31592297..49065340 [GRCh37] Chr13:30490297..47963341 [NCBI36] Chr13:13q12.3-14.2	pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	copy number gain	See cases [RCV000138339]	Chr13:32531486..86757044 [GRCh38] Chr13:33105623..87409299 [GRCh37] Chr13:32003623..86207300 [NCBI36] Chr13:13q13.1-31.1	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	copy number gain	See cases [RCV000139078]	Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	copy number gain	See cases [RCV000140004]	Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q14.11(chr13:42684429-43246957)x1	copy number loss	See cases [RCV000140040]	Chr13:42684429..43246957 [GRCh38] Chr13:43258565..43821093 [GRCh37] Chr13:42156565..42719093 [NCBI36] Chr13:13q14.11	likely benign\|uncertain significance
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	copy number loss	See cases [RCV000140744]	Chr13:37864226..67963788 [GRCh38] Chr13:38438363..68537920 [GRCh37] Chr13:37336363..67435921 [NCBI36] Chr13:13q13.3-21.32	pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	copy number loss	See cases [RCV000140788]	Chr13:38514177..51425214 [GRCh38] Chr13:39088314..51999350 [GRCh37] Chr13:37986314..50897351 [NCBI36] Chr13:13q13.3-14.3	pathogenic
GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	copy number gain	See cases [RCV000142892]	Chr13:39860568..43580405 [GRCh38] Chr13:40434705..44154541 [GRCh37] Chr13:39332705..43052541 [NCBI36] Chr13:13q14.11	uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	copy number gain	See cases [RCV000142924]	Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	copy number gain	See cases [RCV000143462]	Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	copy number gain	See cases [RCV000148244]	Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000148126]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	copy number gain	See cases [RCV000240150]	Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34	pathogenic
NM_001318932.2(FAM216B):c.187T>C (p.Tyr63His)	single nucleotide variant	not specified [RCV004293431]	Chr13:42786850 [GRCh38] Chr13:43360986 [GRCh37] Chr13:13q14.11	uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	copy number gain	See cases [RCV000449142]	Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1	copy number loss	See cases [RCV000446747]	Chr13:42457841..91796698 [GRCh37] Chr13:13q14.11-31.3	pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1	copy number loss	See cases [RCV000446067]	Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	See cases [RCV000445886]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)	copy number gain	See cases [RCV000510405]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	copy number gain	See cases [RCV000511880]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q14.11(chr13:43163675-43717925)x4	copy number gain	not provided [RCV000683531]	Chr13:43163675..43717925 [GRCh37] Chr13:13q14.11	uncertain significance
GRCh37/hg19 13q14.11(chr13:43159134-44041338)x4	copy number gain	not provided [RCV000683538]	Chr13:43159134..44041338 [GRCh37] Chr13:13q14.11	uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	copy number gain	not provided [RCV000683572]	Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1	pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3	copy number gain	not provided [RCV000738115]	Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3	copy number gain	not provided [RCV000750643]	Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q14.11(chr13:43168660-43748849)x3	copy number gain	not provided [RCV000750698]	Chr13:43168660..43748849 [GRCh37] Chr13:13q14.11	likely benign
GRCh37/hg19 13q14.11(chr13:43211897-44024183)x4	copy number gain	not provided [RCV000750702]	Chr13:43211897..44024183 [GRCh37] Chr13:13q14.11	benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV000849129]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q14.11(chr13:43163675-43887005)x3	copy number gain	not provided [RCV001006561]	Chr13:43163675..43887005 [GRCh37] Chr13:13q14.11	uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)	copy number gain	Complete trisomy 13 syndrome [RCV002280659]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	copy number gain	See cases [RCV001353184]	Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	copy number gain	See cases [RCV001780076]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	copy number gain	not provided [RCV001829235]	Chr13:42504540..108206269 [GRCh37] Chr13:13q14.11-33.3	pathogenic
GRCh37/hg19 13q14.11(chr13:43163676-43719772)x3	copy number gain	not provided [RCV001834228]	Chr13:43163676..43719772 [GRCh37] Chr13:13q14.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726)	copy number gain	not specified [RCV002053035]	Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	copy number loss	not specified [RCV002053048]	Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31	pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	copy number loss	not specified [RCV002053057]	Chr13:42457841..91796698 [GRCh37] Chr13:13q14.11-31.3	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)	copy number gain	not specified [RCV002053036]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	copy number loss	not specified [RCV002053052]	Chr13:36376204..80681753 [GRCh37] Chr13:13q13.3-31.1	pathogenic
GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	copy number loss	not specified [RCV002053053]	Chr13:39428367..43608103 [GRCh37] Chr13:13q13.3-14.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV001834436]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	copy number gain	not provided [RCV002291540]	Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q14.11(chr13:43163676-43717925)x3	copy number gain	not provided [RCV002473671]	Chr13:43163676..43717925 [GRCh37] Chr13:13q14.11	uncertain significance
GRCh37/hg19 13q14.11(chr13:43354951-43411234)x1	copy number loss	not provided [RCV002474896]	Chr13:43354951..43411234 [GRCh37] Chr13:13q14.11	uncertain significance
NM_001318932.2(FAM216B):c.319C>T (p.Arg107Trp)	single nucleotide variant	not specified [RCV004128623]	Chr13:42788689 [GRCh38] Chr13:43362825 [GRCh37] Chr13:13q14.11	uncertain significance
NM_001318932.2(FAM216B):c.169G>A (p.Glu57Lys)	single nucleotide variant	not specified [RCV004190320]	Chr13:42786832 [GRCh38] Chr13:43360968 [GRCh37] Chr13:13q14.11	uncertain significance
NM_001318932.2(FAM216B):c.164A>G (p.Gln55Arg)	single nucleotide variant	not specified [RCV004234584]	Chr13:42786827 [GRCh38] Chr13:43360963 [GRCh37] Chr13:13q14.11	uncertain significance
NM_001318932.2(FAM216B):c.121C>T (p.Arg41Cys)	single nucleotide variant	not specified [RCV004176918]	Chr13:42786784 [GRCh38] Chr13:43360920 [GRCh37] Chr13:13q14.11	uncertain significance
NM_001318932.2(FAM216B):c.121C>A (p.Arg41Ser)	single nucleotide variant	not specified [RCV004306548]	Chr13:42786784 [GRCh38] Chr13:43360920 [GRCh37] Chr13:13q14.11	uncertain significance
NM_001318932.2(FAM216B):c.12C>A (p.Asn4Lys)	single nucleotide variant	not specified [RCV004343637]	Chr13:42784079 [GRCh38] Chr13:43358215 [GRCh37] Chr13:13q14.11	likely benign
GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	copy number loss	not specified [RCV003987035]	Chr13:35060982..44540846 [GRCh37] Chr13:13q13.2-14.11	uncertain significance
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	copy number gain	not specified [RCV003987040]	Chr13:35015723..59553519 [GRCh37] Chr13:13q13.2-21.1	pathogenic
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	copy number loss	not provided [RCV003885457]	Chr13:34884647..61309742 [GRCh37] Chr13:13q13.2-21.2	pathogenic
NM_001318932.2(FAM216B):c.265A>G (p.Arg89Gly)	single nucleotide variant	not specified [RCV004381211]	Chr13:42788635 [GRCh38] Chr13:43362771 [GRCh37] Chr13:13q14.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1924
Count of miRNA genes:	673
Interacting mature miRNAs:	755
Transcripts:	ENST00000313851, ENST00000537894
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.

Markers in Region

D13S1270

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	43,363,654 - 43,363,831	UniSTS	GRCh37
Build 36	13	42,261,654 - 42,261,831	RGD	NCBI36
Celera	13	24,421,450 - 24,421,627	RGD
Cytogenetic Map	13	q14.11	UniSTS
HuRef	13	24,167,469 - 24,167,652	UniSTS
Marshfield Genetic Map	13	38.96	RGD
Marshfield Genetic Map	13	38.96	UniSTS
Genethon Genetic Map	13	41.0	UniSTS
deCODE Assembly Map	13	44.38	UniSTS
Whitehead-YAC Contig Map	13		UniSTS

STS-T93573

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	43,365,478 - 43,365,682	UniSTS	GRCh37
Build 36	13	42,263,478 - 42,263,682	RGD	NCBI36
Celera	13	24,423,274 - 24,423,478	RGD
Cytogenetic Map	13	q14.11	UniSTS
HuRef	13	24,169,299 - 24,169,503	UniSTS
GeneMap99-GB4 RH Map	13	135.29	UniSTS

RH44530

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	43,365,521 - 43,365,681	UniSTS	GRCh37
Build 36	13	42,263,521 - 42,263,681	RGD	NCBI36
Celera	13	24,423,317 - 24,423,477	RGD
Cytogenetic Map	13	q14.11	UniSTS
HuRef	13	24,169,342 - 24,169,502	UniSTS
GeneMap99-GB4 RH Map	13	148.71	UniSTS
NCBI RH Map	13	335.5	UniSTS

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

pharyngeal arch

High

Medium

119

135

Low

134

378

163

335

352

136

Below cutoff

1075

769

599

109

436

1703

923

1695

776

504

766

944

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001318932	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_182508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK098238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB240730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA592345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB221838	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000313851 ⟹ ENSP00000319336

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	42,781,584 - 42,791,549 (+)	Ensembl

RefSeq Acc Id:

ENST00000537894 ⟹ ENSP00000445786

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	42,781,550 - 42,791,547 (+)	Ensembl

RefSeq Acc Id:

NM_001318932 ⟹ NP_001305861

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	42,781,584 - 42,791,549 (+)	NCBI
CHM1_1	13	43,323,249 - 43,333,247 (+)	NCBI
T2T-CHM13v2.0	13	42,001,615 - 42,011,583 (+)	NCBI

Sequence:

show sequence

AGCATATAAACAGAGTCCGCGTAAGAAAACTACACTGAATAGGAATGGCAGCTTTTAAAAGTGG
GGGAACTACAGTATAGGGTATAGGATAAACGATGGGACAAAACTGGAAAAGACAACAAAAGCTT
TGGAATGTTCCACAACTTCCTTTTATTCGAGTTCCTCCCTCCATCTATGACACTTCCTTACTAA
AGGCCCTCAACCAAGGGCAACAGCGCTACTTTTACAGCATTATGAGGATTTACAACTCCAGGCC
CCAGTGGGAGGCCCTGCAGACCCGCTACATTCACAGCCTTCAGCACCAACAGCTGCTTGGCTAT
ATTACTCAACGGGAAGCCTTGTCTTATGCTCTTGTACTTAGAGATTCAACCAAGAGAGCCTCAG
CCAAGGTAGCTCCTCAAAGAACCATTCCCCGGAAAACTTCAGCCATGACAAGAAGATGTCCATC
AGTACTACCTGTATCTGTGGTTCTACCTAGGGCCCAAAGTAAAAGGCGCCAAGTGCTCAGGAAC
TGAGACTTGGCAGCATTTTCAGAAACAGGAAGTTTGCCCATGTATCCCTGGTATCTAGTGGGTG
CTTTGTGCATATTTGTTGAATGACAGTGAATAATTTCTAATATAAACCCCAGACCTAAAAATAA
TCTCTGATTCATATAAATTTTGCCAGCAAGACCAAGAGGTTTAAGAGCAATGGAGCCGAGAGTA
AGCAAGCCTTTCCACATAACATCCGTAGAGTAAAAGGACTTTTAAAGCTTTCAAAGTAAAAGTT
TACTTTGGATTAGAACCTCCTAGAGAAGTCCCCAAAACAGTGAAAGGGGACAAGTGACCAGAAA
GGGCCAGGTCCTCTGTCACTGGGTGACCATTTCTAGCAAACTATCATGTATACATTTTGAAAAT
ATACAAAACAACACAGGATTAACACTGATCATAGAGGGCTTACAAAATCATATCATCCCAGCAA
CAATTGGCCTGTGCATTTCCTTCCTCTCCTCTTCCCCATCAGGCAATGGCATTTAATTTAGCCC
CAAAGCTCTTCTAGTTCTCACCTGGCTTGATCACTTTGTGTCATCTTGAAACATGCACTTATCA
GTCTACCACAGCTGAATTGATTTTATGGAGCTGTAACTGGCCTTGACATGGGTAAGAGAATTCA
TGCACACATCTTTCCCTGGCAGCTGAAGAAACACTCTTAAAAGAATATGAAATAACCCCGAAGA
CTTTATTTCATGTCCAACCTTTCTGTGGCCTCAAATGTTTTAAGCAAAGCACATAAAACTATAC
TAAGCAGTGAGTCAGTTCATCATACAAAGGCATAGTATTGCATTAGTTATATTTAATGGTTATT
TTCATCACCAGAGATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAATCAGTCAC
CAGTGCTCATGTAAAGTCAAAACAAAAAAATGCTTCTTCCTCATCATTGTAAAATACGTCACCC
CATTCAAATCAGCTGATGCCTATGAAAGGAATTGGTTGAGGTGGAATATAAATTTTATTGACAA
GGGATGTGCTAACATTGATCTGAAAGGAATATGCTGCATTATTATCAGAAAAAAAATCATTATC
TTCTCTTTGCAATCATGAACATATAAGATATAAAAATTGTCATGAGATTCTGAACACTAGTATT
GAGGTCCAGCACTACTTCCAAGCTCCTATCTGACTTTTCTTTGGGAGGAATGGGAAGTGTGGTT
GGCCCACTAGTCTGATAAGAAGTCTTGGTGAAGCTAATACTGACCTTGCTGGGGTCATTCACTT
AATCATAAAGAAGCTTCTTGACCTCTGCAAATTCTGGCCCTGACATGTATTCTAAATACCTTTA
CAGTTCTAAGTGAGAAATTGTTACATAGGCTTAGAAGAAGAAAAGACTCCAGTGGGACTGGGAT
GAGCTGCGTGGTAGCCCTCATAAAGCAGAGAGGTTGGTGGGAGACCTAACTTGGCCTATACTAG
CCTTCCCATTGTTTTCACAATGGGCCTTTTATCCCCTCTGAACTGCTTGCCTGCACTTTTATCT
TAGACTTTTTTTTTTGATGAGCATAGGTATTTGCTGTGTAAGCCTTATCTAGTGATGCAGAATA
TCAAGGAGGCCACTTACAATTCTAAGCTGCATCCCTGTATCAAAAATCTCAGAAGCACCTTGCA
TCTGATAGAGGCTTGTAAGAGCAGATTGACAGGTGAATGTCACAGGTCCATAAGAAGGACAAAT
AGATCTAAGTTGGGCAAAAGATTCTATTTGTTGGTTCTCCCTTCTAAGATGATAATATGCCCCT
GCACTTGAGACCTTACTTGAAACTTAAAGAAATGTGATTGGTTATGGTGCTGGGAGAAAGGGGT
GCACCTGGGAGGACACTGAGAAAGATAAACAAAGGGGAAGGAAGAGAGGACAACCTGTAACTTT
TAGAAAAGGCTACTACTTTTAACTGTTGGAGAAAATGCTATTGCTTGCACTCACAATGTCAATA
TACATTATCAGAACTTAAGTCCTGGAGATCAGAGACTGTTTCACCTGAAATTGCTAGCACCTAG
AATGGCCCCCGGTTGCGGTAGGCAATCAATAATACTCTTTGAATAATAATGAGGTTTTCAAAGA
TTCTGCAAGTCAGACTGGCCTCTGGCTTTGTGATATTATTCTAGAGTCCCAGTAACCCACAATT
GTTGATGAGGAGTAGCAGTAGAATATCAAGGACAGGTGATGAGACAACAAGTCTATCCCGCAAA
GGGCAGGGAATAGAGGGTACACTGGAAAGAATTTGAAAACAATAATAAAGCTGACTACAAGTTG
GTCTATTTTTTATTACCACCATGAGCCAGCAATTCTAAATAATATCAGTGATAAAGTATTCATC
CCCCAAAATATTTTATTGAACTAGGTTCTAAACAATTTCTGAGGTTACTGTTGAGTTTTAAATA
ATACATATATGTAAGCTTCAAAGTAGCACATTTGTACTGTTTTTCTTCAATAATCATTTTACTC
CACATGGAAACTAATTCAGGGAATATCCTGCTATATAGTTGGCTCTCAGTACATATGGTGTCAG
CTCATGTGTCTCCAGCCCCTGTAGTACTATATATTATTGCATTTAAATGATGGATTTGAAATAA
ACAATGATTATACCATGATTGTAAAGACAAGAAACAGAACCTGAAATACTTCAATTTTTGATTC
TATGTGGCAGTTTAGAGTTTTTTAAAACAATTTTTATGTATAATTTATATGCAATAAATGCCCT
CAAAGTTCAA

hide sequence

RefSeq Acc Id:

NM_182508 ⟹ NP_872314

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	42,781,584 - 42,791,549 (+)	NCBI
GRCh37	13	43,355,686 - 43,365,685 (+)	RGD
Build 36	13	42,253,751 - 42,263,683 (+)	NCBI Archive
Celera	13	24,413,479 - 24,423,481 (+)	RGD
HuRef	13	24,159,497 - 24,169,506 (+)	ENTREZGENE
CHM1_1	13	43,323,249 - 43,333,247 (+)	NCBI
T2T-CHM13v2.0	13	42,001,615 - 42,011,583 (+)	NCBI

Sequence:

show sequence

AGCATATAAACAGAGTCCGCGTAAGAAAACTACACTGAATAGGAATGGCAGCTTTTAAAAGTGG
GGGAACTACAGTATAGGGATAAACGATGGGACAAAACTGGAAAAGACAACAAAAGCTTTGGAAT
GTTCCACAACTTCCTTTTATTCGAGTTCCTCCCTCCATCTATGACACTTCCTTACTAAAGGCCC
TCAACCAAGGGCAACAGCGCTACTTTTACAGCATTATGAGGATTTACAACTCCAGGCCCCAGTG
GGAGGCCCTGCAGACCCGCTACATTCACAGCCTTCAGCACCAACAGCTGCTTGGCTATATTACT
CAACGGGAAGCCTTGTCTTATGCTCTTGTACTTAGAGATTCAACCAAGAGAGCCTCAGCCAAGG
TAGCTCCTCAAAGAACCATTCCCCGGAAAACTTCAGCCATGACAAGAAGATGTCCATCAGTACT
ACCTGTATCTGTGGTTCTACCTAGGGCCCAAAGTAAAAGGCGCCAAGTGCTCAGGAACTGAGAC
TTGGCAGCATTTTCAGAAACAGGAAGTTTGCCCATGTATCCCTGGTATCTAGTGGGTGCTTTGT
GCATATTTGTTGAATGACAGTGAATAATTTCTAATATAAACCCCAGACCTAAAAATAATCTCTG
ATTCATATAAATTTTGCCAGCAAGACCAAGAGGTTTAAGAGCAATGGAGCCGAGAGTAAGCAAG
CCTTTCCACATAACATCCGTAGAGTAAAAGGACTTTTAAAGCTTTCAAAGTAAAAGTTTACTTT
GGATTAGAACCTCCTAGAGAAGTCCCCAAAACAGTGAAAGGGGACAAGTGACCAGAAAGGGCCA
GGTCCTCTGTCACTGGGTGACCATTTCTAGCAAACTATCATGTATACATTTTGAAAATATACAA
AACAACACAGGATTAACACTGATCATAGAGGGCTTACAAAATCATATCATCCCAGCAACAATTG
GCCTGTGCATTTCCTTCCTCTCCTCTTCCCCATCAGGCAATGGCATTTAATTTAGCCCCAAAGC
TCTTCTAGTTCTCACCTGGCTTGATCACTTTGTGTCATCTTGAAACATGCACTTATCAGTCTAC
CACAGCTGAATTGATTTTATGGAGCTGTAACTGGCCTTGACATGGGTAAGAGAATTCATGCACA
CATCTTTCCCTGGCAGCTGAAGAAACACTCTTAAAAGAATATGAAATAACCCCGAAGACTTTAT
TTCATGTCCAACCTTTCTGTGGCCTCAAATGTTTTAAGCAAAGCACATAAAACTATACTAAGCA
GTGAGTCAGTTCATCATACAAAGGCATAGTATTGCATTAGTTATATTTAATGGTTATTTTCATC
ACCAGAGATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAATCAGTCACCAGTGC
TCATGTAAAGTCAAAACAAAAAAATGCTTCTTCCTCATCATTGTAAAATACGTCACCCCATTCA
AATCAGCTGATGCCTATGAAAGGAATTGGTTGAGGTGGAATATAAATTTTATTGACAAGGGATG
TGCTAACATTGATCTGAAAGGAATATGCTGCATTATTATCAGAAAAAAAATCATTATCTTCTCT
TTGCAATCATGAACATATAAGATATAAAAATTGTCATGAGATTCTGAACACTAGTATTGAGGTC
CAGCACTACTTCCAAGCTCCTATCTGACTTTTCTTTGGGAGGAATGGGAAGTGTGGTTGGCCCA
CTAGTCTGATAAGAAGTCTTGGTGAAGCTAATACTGACCTTGCTGGGGTCATTCACTTAATCAT
AAAGAAGCTTCTTGACCTCTGCAAATTCTGGCCCTGACATGTATTCTAAATACCTTTACAGTTC
TAAGTGAGAAATTGTTACATAGGCTTAGAAGAAGAAAAGACTCCAGTGGGACTGGGATGAGCTG
CGTGGTAGCCCTCATAAAGCAGAGAGGTTGGTGGGAGACCTAACTTGGCCTATACTAGCCTTCC
CATTGTTTTCACAATGGGCCTTTTATCCCCTCTGAACTGCTTGCCTGCACTTTTATCTTAGACT
TTTTTTTTTGATGAGCATAGGTATTTGCTGTGTAAGCCTTATCTAGTGATGCAGAATATCAAGG
AGGCCACTTACAATTCTAAGCTGCATCCCTGTATCAAAAATCTCAGAAGCACCTTGCATCTGAT
AGAGGCTTGTAAGAGCAGATTGACAGGTGAATGTCACAGGTCCATAAGAAGGACAAATAGATCT
AAGTTGGGCAAAAGATTCTATTTGTTGGTTCTCCCTTCTAAGATGATAATATGCCCCTGCACTT
GAGACCTTACTTGAAACTTAAAGAAATGTGATTGGTTATGGTGCTGGGAGAAAGGGGTGCACCT
GGGAGGACACTGAGAAAGATAAACAAAGGGGAAGGAAGAGAGGACAACCTGTAACTTTTAGAAA
AGGCTACTACTTTTAACTGTTGGAGAAAATGCTATTGCTTGCACTCACAATGTCAATATACATT
ATCAGAACTTAAGTCCTGGAGATCAGAGACTGTTTCACCTGAAATTGCTAGCACCTAGAATGGC
CCCCGGTTGCGGTAGGCAATCAATAATACTCTTTGAATAATAATGAGGTTTTCAAAGATTCTGC
AAGTCAGACTGGCCTCTGGCTTTGTGATATTATTCTAGAGTCCCAGTAACCCACAATTGTTGAT
GAGGAGTAGCAGTAGAATATCAAGGACAGGTGATGAGACAACAAGTCTATCCCGCAAAGGGCAG
GGAATAGAGGGTACACTGGAAAGAATTTGAAAACAATAATAAAGCTGACTACAAGTTGGTCTAT
TTTTTATTACCACCATGAGCCAGCAATTCTAAATAATATCAGTGATAAAGTATTCATCCCCCAA
AATATTTTATTGAACTAGGTTCTAAACAATTTCTGAGGTTACTGTTGAGTTTTAAATAATACAT
ATATGTAAGCTTCAAAGTAGCACATTTGTACTGTTTTTCTTCAATAATCATTTTACTCCACATG
GAAACTAATTCAGGGAATATCCTGCTATATAGTTGGCTCTCAGTACATATGGTGTCAGCTCATG
TGTCTCCAGCCCCTGTAGTACTATATATTATTGCATTTAAATGATGGATTTGAAATAAACAATG
ATTATACCATGATTGTAAAGACAAGAAACAGAACCTGAAATACTTCAATTTTTGATTCTATGTG
GCAGTTTAGAGTTTTTTAAAACAATTTTTATGTATAATTTATATGCAATAAATGCCCTCAAAGT
TCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001305861	(Get FASTA)	NCBI Sequence Viewer
	NP_872314	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH93659	(Get FASTA)	NCBI Sequence Viewer
	AAI12238	(Get FASTA)	NCBI Sequence Viewer
	BAC05268	(Get FASTA)	NCBI Sequence Viewer
	EAX08682	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000319336
	ENSP00000319336.1
	ENSP00000445786
	ENSP00000445786.1
GenBank Protein	Q8N7L0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_872314 ⟸ NM_182508
- UniProtKB:	B1ALI3 (UniProtKB/Swiss-Prot), Q8N7L0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGQNWKRQQKLWNVPQLPFIRVPPSIYDTSLLKALNQGQQRYFYSIMRIYNSRPQWEALQTRYI HSLQHQQLLGYITQREALSYALVLRDSTKRASAKVAPQRTIPRKTSAMTRRCPSVLPVSVVLPR AQSKRRQVLRN hide sequence

RefSeq Acc Id:	NP_001305861 ⟸ NM_001318932
- UniProtKB:	B1ALI3 (UniProtKB/Swiss-Prot), Q8N7L0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGQNWKRQQKLWNVPQLPFIRVPPSIYDTSLLKALNQGQQRYFYSIMRIYNSRPQWEALQTRYI HSLQHQQLLGYITQREALSYALVLRDSTKRASAKVAPQRTIPRKTSAMTRRCPSVLPVSVVLPR AQSKRRQVLRN hide sequence

RefSeq Acc Id:

ENSP00000445786 ⟸ ENST00000537894

RefSeq Acc Id:

ENSP00000319336 ⟸ ENST00000313851

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N7L0-F1-model_v2	AlphaFold	Q8N7L0	1-139	view protein structure

Promoters

RGD ID:

7226309

Promoter ID:

EPDNEW_H18900

Type:

initiation region

Name:

FAM216B_1

Description:

family with sequence similarity 216 member B

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	13	42,781,584 - 42,781,644	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26883	AgrOrtholog
COSMIC	FAM216B	COSMIC
Ensembl Genes	ENSG00000179813	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000313851	ENTREZGENE
	ENST00000313851.3	UniProtKB/Swiss-Prot
	ENST00000537894	ENTREZGENE
	ENST00000537894.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000179813	GTEx
HGNC ID	HGNC:26883	ENTREZGENE
Human Proteome Map	FAM216B	Human Proteome Map
InterPro	FAM216	UniProtKB/Swiss-Prot
KEGG Report	hsa:144809	UniProtKB/Swiss-Prot
NCBI Gene	144809	ENTREZGENE
PANTHER	PROTEIN FAM216B	UniProtKB/Swiss-Prot
	PTHR16476	UniProtKB/Swiss-Prot
Pfam	FAM216B	UniProtKB/Swiss-Prot
PharmGKB	PA147358510	PharmGKB
UniProt	B1ALI3	ENTREZGENE
	F216B_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B1ALI3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM216B	family with sequence similarity 216 member B		family with sequence similarity 216, member B	Symbol and/or name change	5135510	APPROVED
2012-02-14	FAM216B	family with sequence similarity 216, member B	C13orf30	chromosome 13 open reading frame 30	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)

Send us a Message