FHIP2A (FHF complex subunit HOOK interacting protein 2A)

Gene: FHIP2A (FHF complex subunit HOOK interacting protein 2A) Homo sapiens

Analyze

Symbol:

FHIP2A

Name:

FHF complex subunit HOOK interacting protein 2A

RGD ID:

1314542

HGNC Page

HGNC:29320

Description:

ASSOCIATED WITH genetic disease; melanoma; syndromic intellectual disability; INTERACTS WITH 17beta-estradiol; 4,4'-sulfonyldiphenol; all-trans-retinoic acid

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bA106M7.3; DKFZp686D10123; FAM160B1; family with sequence similarity 160 member B1; family with sequence similarity 160, member B1; hypothetical protein LOC57700; KIAA1600; RP11-106M7.3

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	114,821,780 - 114,899,832 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	114,821,744 - 114,899,832 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	116,581,539 - 116,659,591 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	116,571,773 - 116,614,257 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	10	110,310,694 - 110,388,784 (+)	NCBI		Celera
Cytogenetic Map	10	q25.3	NCBI
HuRef	10	110,207,517 - 110,286,139 (+)	NCBI		HuRef
CHM1_1	10	116,865,240 - 116,943,327 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	115,715,884 - 115,793,964 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

melanoma (EXP)

syndromic intellectual disability (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

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

3,4-methylenedioxymethamphetamine (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

carbon nanotube (ISO)

choline (ISO)

chromium(6+) (ISO)

dorsomorphin (EXP)

doxorubicin (ISO)

folic acid (ISO)

formaldehyde (EXP)

gentamycin (ISO)

inulin (ISO)

ivermectin (EXP)

L-methionine (ISO)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (EXP,ISO)

propiconazole (ISO)

Salinomycin (EXP)

SB 431542 (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

troglitazone (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:10997877	PMID:19322201	PMID:26186194	PMID:26673895	PMID:28514442	PMID:28718761	PMID:29395067	PMID:29449217	PMID:29987050	PMID:30833792	PMID:31353455	PMID:33961781
PMID:34882091	PMID:35271311	PMID:35831314	PMID:37689310

Genomics

Comparative Map Data

FHIP2A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	114,821,780 - 114,899,832 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	114,821,744 - 114,899,832 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	116,581,539 - 116,659,591 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	116,571,773 - 116,614,257 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	10	110,310,694 - 110,388,784 (+)	NCBI		Celera
Cytogenetic Map	10	q25.3	NCBI
HuRef	10	110,207,517 - 110,286,139 (+)	NCBI		HuRef
CHM1_1	10	116,865,240 - 116,943,327 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	115,715,884 - 115,793,964 (+)	NCBI		T2T-CHM13v2.0

Fhip2a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	57,349,355 - 57,378,026 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	57,349,112 - 57,378,018 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	57,360,923 - 57,389,594 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	57,360,680 - 57,389,586 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	57,435,499 - 57,464,084 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	57,413,930 - 57,442,836 (+)	NCBI		MGSCv36	mm8
Celera	19	59,554,384 - 59,582,892 (+)	NCBI		Celera
Cytogenetic Map	19	D2	NCBI
cM Map	19	52.22	NCBI

Fhip2a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	266,422,617 - 266,449,206 (+)	NCBI		GRCr8
mRatBN7.2	1	256,417,533 - 256,444,109 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	256,417,788 - 256,441,617 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	264,636,020 - 264,662,566 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	271,342,072 - 271,368,619 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	263,980,292 - 264,006,892 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	278,198,181 - 278,224,365 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	278,198,179 - 278,221,686 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	285,574,327 - 285,600,371 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	263,667,832 - 263,692,211 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	263,800,378 - 263,902,884 (+)	NCBI
Celera	1	252,114,149 - 252,140,363 (+)	NCBI		Celera
Cytogenetic Map	1	q55	NCBI

Fhip2a
(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_004955431	19,751,455 - 19,780,905 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955431	19,751,575 - 19,780,905 (+)	NCBI	ChiLan1.0	ChiLan1.0

FHIP2A
(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	8	126,699,517 - 126,778,914 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	126,704,890 - 126,784,252 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	111,414,626 - 111,457,701 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	114,858,836 - 114,892,642 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	114,858,836 - 114,927,836 (+)	Ensembl	panpan1.1		panPan2

FHIP2A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	28	25,602,671 - 25,634,912 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	28	25,602,696 - 25,629,991 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	28	25,748,661 - 25,784,979 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	28	26,131,968 - 26,168,323 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	28	26,131,414 - 26,166,113 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	28	25,686,815 - 25,723,127 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	28	25,701,488 - 25,738,051 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	28	25,895,272 - 25,931,652 (+)	NCBI		UU_Cfam_GSD_1.0

Fhip2a
(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_024407213	20,482,854 - 20,512,786 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936486	5,048,538 - 5,079,512 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936486	5,041,106 - 5,075,507 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FHIP2A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	125,158,648 - 125,193,069 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	125,158,615 - 125,195,864 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	136,281,610 - 136,318,384 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FHIP2A
(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	9	107,690,922 - 107,736,065 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	107,690,957 - 107,737,160 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	68,924,839 - 68,970,007 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fhip2a
(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_004624737	31,739,366 - 31,783,623 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624737	31,736,432 - 31,783,770 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FHIP2A
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	copy number loss	See cases [RCV000050821]	Chr10:114584882..117015907 [GRCh38] Chr10:116344641..118775418 [GRCh37] Chr10:116334631..118765408 [NCBI36] Chr10:10q25.3	pathogenic
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	copy number gain	See cases [RCV000050747]	Chr10:95112607..116776637 [GRCh38] Chr10:96872364..118383651 [GRCh37] Chr10:96862354..118526138 [NCBI36] Chr10:10q23.33-25.3	pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	copy number gain	See cases [RCV000051218]	Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3	pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	copy number loss	See cases [RCV000052570]	Chr10:107191100..118761489 [GRCh38] Chr10:108950858..120521001 [GRCh37] Chr10:108940848..120510991 [NCBI36] Chr10:10q25.1-26.11	pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|See cases [RCV000053560]	Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3	pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	copy number gain	See cases [RCV000053564]	Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3	pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3	copy number gain	See cases [RCV000053588]	Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3	pathogenic
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	copy number gain	not provided [RCV000847820]	Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3	pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	copy number gain	See cases [RCV000133688]	Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3	pathogenic
GRCh38/hg38 10q25.3(chr10:114584882-115096595)x3	copy number gain	See cases [RCV000135770]	Chr10:114584882..115096595 [GRCh38] Chr10:116344641..116856352 [GRCh37] Chr10:116334631..116846342 [NCBI36] Chr10:10q25.3	likely benign
GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	copy number loss	See cases [RCV000135960]	Chr10:112074094..115537174 [GRCh38] Chr10:113833852..117032437 [GRCh37] Chr10:113823842..117286674 [NCBI36] Chr10:10q25.2-25.3	pathogenic
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	copy number gain	See cases [RCV000137511]	Chr10:112701186..120970617 [GRCh38] Chr10:114460945..122730130 [GRCh37] Chr10:114450935..122720120 [NCBI36] Chr10:10q25.2-26.12	likely pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	copy number gain	See cases [RCV000137747]	Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3	pathogenic
GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	copy number loss	See cases [RCV000139783]	Chr10:110804735..114884010 [GRCh38] Chr10:112564493..116643769 [GRCh37] Chr10:112554483..116633759 [NCBI36] Chr10:10q25.2-25.3	likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	copy number gain	See cases [RCV000240457]	Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3	pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3	copy number gain	See cases [RCV000449386]	Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3	pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3	copy number gain	See cases [RCV000446733]	Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	copy number gain	See cases [RCV000510813]	Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	copy number gain	See cases [RCV000510972]	Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3	pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	copy number gain	not provided [RCV000683290]	Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3	pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	copy number gain	not provided [RCV000683291]	Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_020940.4(FHIP2A):c.355C>G (p.Arg119Gly)	single nucleotide variant	Inborn genetic diseases [RCV003267339]	Chr10:114835597 [GRCh38] Chr10:116595356 [GRCh37] Chr10:10q25.3	uncertain significance
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)	single nucleotide variant	Syndromic intellectual disability [RCV000856603]	Chr10:114830921 [GRCh38] Chr10:116590680 [GRCh37] Chr10:10q25.3	likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	copy number gain	not provided [RCV000767665]	Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3	pathogenic
GRCh37/hg19 10q25.3(chr10:116643681-116879228)x3	copy number gain	not provided [RCV000849679]	Chr10:116643681..116879228 [GRCh37] Chr10:10q25.3	uncertain significance
NM_020940.4(FHIP2A):c.2162G>A (p.Arg721Gln)	single nucleotide variant	Inborn genetic diseases [RCV003240176]	Chr10:114861304 [GRCh38] Chr10:116621063 [GRCh37] Chr10:10q25.3	uncertain significance
GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	copy number loss	not provided [RCV001827678]	Chr10:107092654..117852548 [GRCh37] Chr10:10q25.1-25.3	uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	copy number gain	not specified [RCV002052891]	Chr10:108455687..135427143 [GRCh37] Chr10:10q25.1-26.3	pathogenic
NM_020940.4(FHIP2A):c.1787G>C (p.Arg596Pro)	single nucleotide variant	Inborn genetic diseases [RCV003213188]	Chr10:114848721 [GRCh38] Chr10:116608480 [GRCh37] Chr10:10q25.3	uncertain significance
NM_020940.4(FHIP2A):c.1763G>A (p.Gly588Asp)	single nucleotide variant	Inborn genetic diseases [RCV003307235]	Chr10:114848697 [GRCh38] Chr10:116608456 [GRCh37] Chr10:10q25.3	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
NM_020940.4(FHIP2A):c.1861T>C (p.Leu621=)	single nucleotide variant	not provided [RCV003394517]	Chr10:114855254 [GRCh38] Chr10:116615013 [GRCh37] Chr10:10q25.3	likely benign
NM_020940.4(FHIP2A):c.1646C>T (p.Ser549Leu)	single nucleotide variant	Inborn genetic diseases [RCV003366020]	Chr10:114847167 [GRCh38] Chr10:116606926 [GRCh37] Chr10:10q25.3	uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	copy number gain	not provided [RCV003484817]	Chr10:111447991..133435388 [GRCh37] Chr10:10q25.1-26.3	pathogenic
NM_020940.4(FHIP2A):c.355C>T (p.Arg119Trp)	single nucleotide variant	not provided [RCV003422913]	Chr10:114835597 [GRCh38] Chr10:116595356 [GRCh37] Chr10:10q25.3	likely benign
NM_020940.4(FHIP2A):c.846A>G (p.Glu282=)	single nucleotide variant	not provided [RCV003394516]	Chr10:114843770 [GRCh38] Chr10:116603529 [GRCh37] Chr10:10q25.3	likely benign
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	copy number gain	not specified [RCV003986891]	Chr10:107129993..123817654 [GRCh37] Chr10:10q25.1-26.13	likely pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	copy number gain	not specified [RCV003986893]	Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	copy number gain	Distal trisomy 10q [RCV003458955]	Chr10:111378692..135427143 [GRCh37] Chr10:10q25.1-26.3	pathogenic
NM_020940.4(FHIP2A):c.560A>G (p.Asn187Ser)	single nucleotide variant	Inborn genetic diseases [RCV003356946]	Chr10:114842970 [GRCh38] Chr10:116602729 [GRCh37] Chr10:10q25.3	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1438
Count of miRNA genes:	858
Interacting mature miRNAs:	1001
Transcripts:	ENST00000369246, ENST00000369248, ENST00000369250, ENST00000411414
Prediction methods:	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.

Markers in Region

D10S562

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,640,361 - 116,640,545	UniSTS	GRCh37
Build 36	10	116,630,351 - 116,630,535	RGD	NCBI36
Celera	10	110,369,551 - 110,369,735	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,266,906 - 110,267,090	UniSTS
Marshfield Genetic Map	10	134.17	UniSTS
Marshfield Genetic Map	10	134.17	RGD
Genethon Genetic Map	10	142.7	UniSTS
deCODE Assembly Map	10	134.83	UniSTS
Whitehead-RH Map	10	622.7	UniSTS
Whitehead-YAC Contig Map	10		UniSTS
NCBI RH Map	10	1250.0	UniSTS

D10S2280

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,624,147 - 116,624,449	UniSTS	GRCh37
Build 36	10	116,614,137 - 116,614,439	RGD	NCBI36
Celera	10	110,353,337 - 110,353,639	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,250,680 - 110,250,982	UniSTS
GeneMap99-GB4 RH Map	10	517.39	UniSTS
Whitehead-RH Map	10	623.9	UniSTS
Whitehead-YAC Contig Map	10		UniSTS
NCBI RH Map	10	1250.0	UniSTS

RH27144

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,619,935 - 116,620,043	UniSTS	GRCh37
Build 36	10	116,609,925 - 116,610,033	RGD	NCBI36
Celera	10	110,349,125 - 110,349,233	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,246,468 - 110,246,576	UniSTS

RH119463

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,612,150 - 116,612,437	UniSTS	GRCh37
Build 36	10	116,602,140 - 116,602,427	RGD	NCBI36
Celera	10	110,341,340 - 110,341,627	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,238,683 - 110,238,970	UniSTS
TNG Radiation Hybrid Map	10	56660.0	UniSTS

D10S1341E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,624,280 - 116,624,384	UniSTS	GRCh37
Build 36	10	116,614,270 - 116,614,374	RGD	NCBI36
Celera	10	110,353,470 - 110,353,574	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,250,813 - 110,250,917	UniSTS

SHGC-106583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,659,233 - 116,659,518	UniSTS	GRCh37
Build 36	10	116,649,223 - 116,649,508	RGD	NCBI36
Celera	10	110,388,431 - 110,388,716	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,285,786 - 110,286,071	UniSTS
TNG Radiation Hybrid Map	10	56683.0	UniSTS

STS-T87905

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,619,871 - 116,620,082	UniSTS	GRCh37
Build 36	10	116,609,861 - 116,610,072	RGD	NCBI36
Celera	10	110,349,061 - 110,349,272	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,246,404 - 110,246,615	UniSTS
GeneMap99-GB4 RH Map	10	521.37	UniSTS
NCBI RH Map	10	1250.0	UniSTS

STS-N32594

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	116,623,592 - 116,623,717	UniSTS	GRCh37
Build 36	10	116,613,582 - 116,613,707	RGD	NCBI36
Celera	10	110,352,782 - 110,352,907	RGD
Cytogenetic Map	10	q25.3	UniSTS
HuRef	10	110,250,125 - 110,250,250	UniSTS
GeneMap99-GB4 RH Map	10	521.27	UniSTS
NCBI RH Map	10	1250.0	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

entire extraembryonic component

High

Medium

1968

1789

1444

387

1367

282

3796

1484

1500

194

1324

1517

117

1161

2383

Low

466

1193

279

235

578

182

560

711

2219

225

129

405

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001135051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB046820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI521900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833226	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC037207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR933692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000369246 ⟹ ENSP00000358249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	114,821,770 - 114,833,465 (+)	Ensembl

RefSeq Acc Id:

ENST00000369248 ⟹ ENSP00000358251

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	114,821,780 - 114,864,717 (+)	Ensembl

RefSeq Acc Id:

ENST00000369250 ⟹ ENSP00000358253

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	114,821,744 - 114,899,832 (+)	Ensembl

RefSeq Acc Id:

ENST00000411414 ⟹ ENSP00000411924

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	114,860,791 - 114,863,914 (+)	Ensembl

RefSeq Acc Id:

ENST00000710382 ⟹ ENSP00000518239

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	114,821,780 - 114,864,717 (+)	Ensembl

RefSeq Acc Id:

NM_001135051 ⟹ NP_001128523

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	114,821,780 - 114,899,832 (+)	NCBI
GRCh37	10	116,581,503 - 116,659,586 (+)	RGD
Celera	10	110,310,694 - 110,388,784 (+)	RGD
HuRef	10	110,207,517 - 110,286,139 (+)	ENTREZGENE
CHM1_1	10	116,865,240 - 116,943,327 (+)	NCBI
T2T-CHM13v2.0	10	115,715,884 - 115,793,964 (+)	NCBI

Sequence:

show sequence

GAGCCGGGCTGCCACCGTGTCCCAACCGGTGCCGCCGCCGGAGCTTCTCCGGGCCCCGAGTCCT
CGCCGAACGCCCTCCTCGCCGCCCGCCGCGTCCCGGCGCCCTCCGGAGCCGCCGAGCCGCCCGC
GCACACCTGAAGCGGCCGGGCCAGGCCCTGCCTCGATCCTCAGCTCGTCCTCCCCGCCCCGCAC
CGGCCTTCACTCTGGAGCGGCCCCGGCAGCCGCAGCAGGGGCGGCGGCGGCGGATCGAGGAGCT
CTCCAGGTCGTCCCGGGAGAGGCTGCTGCAGTCCCGGGACAGGATGTTCTCCAAGTTCACCTCC
ATCCTGCAGCACGCCGTGGAGGCGCTTGCACCTTCTCTTCCTTTACAAGAAGATTTTGTTTATC
ACTGGAAGGCAATTACCCATTACTACATAGAGACTTCAGATGATAAAGCCCCAGTGACCGATAC
AAATATTCCATCGCATCTGGAACAGATGTTAGATATACTGGTTCAAGAAGAAAATGAACGGGAA
TCTGGAGAGACAGGGCCATGTATGGAATATTTGCTTCATCACAAGATCTTGGAAACATTATATA
CCTTGGGGAAAGCTGATTGTCCTCCGGGAATGAAACAGCAGGTTTTGGTTTTCTATACGAAACT
TCTGGGAAGAATCCGGCAGCCACTACTTCCACACATTAACGTGCACAGGCCAGTGCAGAAATTA
ATTAGACTCTGTGGTGAAGTCCTAGCAACACCAACAGAAAATGAAGAGATTCAGTTTCTTTGCA
TTGTGTGTGCGAAGCTGAAACAGGACCCCTACCTGGTTAACTTTTTCCTAGAGAATAAGATGAA
ATCATTGGCTTCCAAAGGAGTACCAAATGTAATTTCAGAAGATACATTAAAAGGTCAGGATTCC
TTGTCAACAGATACAGGACAGTCCCGTCAACCAGAGGAACTATCTGGTGCTACTGGAATGGAGC
AAACAGAATTGGAAGATGAGCCTCCTCATCAGATGGATCACCTGTCCACAAGCTTGGATAACCT
CAGTGTCACCTCACTGCCAGAGGCCTCGGTTGTTTGTCCAAATCAGGATTACAATTTAGTGAAT
TCTTTGTTAAATCTTACTAGAAGTCCTGATGGCAGAATAGCTGTGAAGGCATGTGAAGGCTTGA
TGCTGTTAGTAAGTTTGCCAGAGCCTGCGGCTGCAAAGTGCCTTACACAGAGCACTTGCTTGTG
TGAACTACTGACAGACAGACTTGCCTCCCTGTACAAGGCCCTACCTCAGTCAGTGGATCCGTTA
GATATTGAAACCGTGGAAGCAATTAACTGGGGCTTGGACTCATATAGTCATAAAGAAGATGCTT
CAGCATTTCCAGGAAAACGAGCCTTAATTTCATTTCTTTCCTGGTTTGATTATTGTGATCAGCT
CATTAAGGAAGCCCAAAAGACTGCTGCTGTTGCTCTTGCCAAAGCTGTTCATGAAAGATTTTTC
ATTGGTGTTATGGAACCTCAATTAATGCAAACTTCTGAGATGGGTATTCTCACATCCACTGCTC
TGCTTCATCGCATCGTTCGGCAAGTGACCTCTGATGTTTTGCTTCAAGAAATGGTGTTTTTTAT
CCTTGGAGAACAGAGGGAACCAGAAACTCTGGCAGAAATCAGCAGACATCCTTTAAGGCATAGG
TTAATTGAACATTGTGATCACATATCTGATGAGATAAGCATAATGACATTACGAATGTTTGAAC
ATCTTTTACAAAAACCCAATGAGCACATTCTTTACAACTTGGTCTTGAGAAATCTTGAAGAAAG
AAATTATACAGAATATAAACCTTTGTGCCCAGAAGATAAAGATGTGGTAGAAAATGGATTGATA
GCAGGAGCAGTAGATCTGGAAGAAGATCCATTATTTACTGACATTTCACCAGAAAACACTTTGC
CAAACCAAGAGTGGCTTAGTTCTTCACCTCCTGCTACTCCAGACCACCCCAAAAATGATGGAAA
AACTGAAGTTCATAAAATTGTAAATAGTTTTCTCTGTCTGGTACCGGATGACGCAAAATCCTCC
TACCATGTTGAGGGCACAGGATATGACACTTACCTCCGAGACGCTCATAGGCAGTTCCGAGACT
ACTGTGCTATCTGCTTAAGATGGGAGTGGCCTGGGTCTCCAAAAGCATTGGAAAAGTGCAATTT
AGAAGCTGCTTTCTTTGAAGGTCATTTTTTGAAAGTGCTGTTCGACAGAATGGGAAGAATTCTT
GATCAGCCATATGATGTAAACTTACAAGTAACCTCAGTGTTATCTAGACTTTCTCTCTTCCCTC
ATCCACACATCCACGAGTACCTTTTGGATCCTTACGTGAACCTCGCTCCTGGCTGTAGATCTCT
CTTCTCTGTAATTGTCAGGGTTGTTGGAGACCTTATGCTTCGAATCCAGCGTATTCAAGACTTT
ACTCCCAAGCTTCTGTTAGTCAGAAAGCGGTTACTTGGTTTGGAACCTGAAGGCCCTATGCAGA
CGTTGCCTTCATGGTGGTAAGAGGGATTCCAGAGTCTCTTATGTCCTCAAAGCTTCAAGCTCAG
CCAAAAGAATCTCGATGGTTTCCACAAAAAATCTTGGGCCTTGGATCAACTGCCCACCCTTGAA
CCAATCCTGGTGGCCCCAGGCTGATTGGCAGACCTGAATCACCTATCCCATGCCCAGAACTTTG
GCTTGACCAGGCTCATCCAAAACAAGGGAATCCAGAGTGTTTCCCCAAAGAAAATCAGGGGGCT
ATTACTGGGAAAAAGAATTCCACCACAAGTATAAAAAATACTGTTATCAATAAAACATCACCTG
ATACTTTGGTTCATTAAA

hide sequence

RefSeq Acc Id:

NM_020940 ⟹ NP_065991

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	114,821,780 - 114,864,717 (+)	NCBI
GRCh37	10	116,581,503 - 116,659,586 (+)	RGD
Build 36	10	116,571,773 - 116,614,257 (+)	NCBI Archive
Celera	10	110,310,694 - 110,388,784 (+)	RGD
HuRef	10	110,207,517 - 110,286,139 (+)	ENTREZGENE
CHM1_1	10	116,865,240 - 116,908,226 (+)	NCBI
T2T-CHM13v2.0	10	115,715,884 - 115,758,842 (+)	NCBI

Sequence:

show sequence

GAGCCGGGCTGCCACCGTGTCCCAACCGGTGCCGCCGCCGGAGCTTCTCCGGGCCCCGAGTCCT
CGCCGAACGCCCTCCTCGCCGCCCGCCGCGTCCCGGCGCCCTCCGGAGCCGCCGAGCCGCCCGC
GCACACCTGAAGCGGCCGGGCCAGGCCCTGCCTCGATCCTCAGCTCGTCCTCCCCGCCCCGCAC
CGGCCTTCACTCTGGAGCGGCCCCGGCAGCCGCAGCAGGGGCGGCGGCGGCGGATCGAGGAGCT
CTCCAGGTCGTCCCGGGAGAGGCTGCTGCAGTCCCGGGACAGGATGTTCTCCAAGTTCACCTCC
ATCCTGCAGCACGCCGTGGAGGCGCTTGCACCTTCTCTTCCTTTACAAGAAGATTTTGTTTATC
ACTGGAAGGCAATTACCCATTACTACATAGAGACTTCAGATGATAAAGCCCCAGTGACCGATAC
AAATATTCCATCGCATCTGGAACAGATGTTAGATATACTGGTTCAAGAAGAAAATGAACGGGAA
TCTGGAGAGACAGGGCCATGTATGGAATATTTGCTTCATCACAAGATCTTGGAAACATTATATA
CCTTGGGGAAAGCTGATTGTCCTCCGGGAATGAAACAGCAGGTTTTGGTTTTCTATACGAAACT
TCTGGGAAGAATCCGGCAGCCACTACTTCCACACATTAACGTGCACAGGCCAGTGCAGAAATTA
ATTAGACTCTGTGGTGAAGTCCTAGCAACACCAACAGAAAATGAAGAGATTCAGTTTCTTTGCA
TTGTGTGTGCGAAGCTGAAACAGGACCCCTACCTGGTTAACTTTTTCCTAGAGAATAAGATGAA
ATCATTGGCTTCCAAAGGAGTACCAAATGTAATTTCAGAAGATACATTAAAAGGTCAGGATTCC
TTGTCAACAGATACAGGACAGTCCCGTCAACCAGAGGAACTATCTGGTGCTACTGGAATGGAGC
AAACAGAATTGGAAGATGAGCCTCCTCATCAGATGGATCACCTGTCCACAAGCTTGGATAACCT
CAGTGTCACCTCACTGCCAGAGGCCTCGGTTGTTTGTCCAAATCAGGATTACAATTTAGTGAAT
TCTTTGTTAAATCTTACTAGAAGTCCTGATGGCAGAATAGCTGTGAAGGCATGTGAAGGCTTGA
TGCTGTTAGTAAGTTTGCCAGAGCCTGCGGCTGCAAAGTGCCTTACACAGAGCACTTGCTTGTG
TGAACTACTGACAGACAGACTTGCCTCCCTGTACAAGGCCCTACCTCAGTCAGTGGATCCGTTA
GATATTGAAACCGTGGAAGCAATTAACTGGGGCTTGGACTCATATAGTCATAAAGAAGATGCTT
CAGCATTTCCAGGAAAACGAGCCTTAATTTCATTTCTTTCCTGGTTTGATTATTGTGATCAGCT
CATTAAGGAAGCCCAAAAGACTGCTGCTGTTGCTCTTGCCAAAGCTGTTCATGAAAGATTTTTC
ATTGGTGTTATGGAACCTCAATTAATGCAAACTTCTGAGATGGGTATTCTCACATCCACTGCTC
TGCTTCATCGCATCGTTCGGCAAGTGACCTCTGATGTTTTGCTTCAAGAAATGGTGTTTTTTAT
CCTTGGAGAACAGAGGGAACCAGAAACTCTGGCAGAAATCAGCAGACATCCTTTAAGGCATAGG
TTAATTGAACATTGTGATCACATATCTGATGAGATAAGCATAATGACATTACGAATGTTTGAAC
ATCTTTTACAAAAACCCAATGAGCACATTCTTTACAACTTGGTCTTGAGAAATCTTGAAGAAAG
AAATTATACAGAATATAAACCTTTGTGCCCAGAAGATAAAGATGTGGTAGAAAATGGATTGATA
GCAGGAGCAGTAGATCTGGAAGAAGATCCATTATTTACTGACATTTCACCAGAAAACACTTTGC
CAAACCAAGAGTGGCTTAGTTCTTCACCTCCTGCTACTCCAGACCACCCCAAAAATGATGGAAA
AACTGAAGTTCATAAAATTGTAAATAGTTTTCTCTGTCTGGTACCGGATGACGCAAAATCCTCC
TACCATGTTGAGGGCACAGGATATGACACTTACCTCCGAGACGCTCATAGGCAGTTCCGAGACT
ACTGTGCTATCTGCTTAAGATGGGAGTGGCCTGGGTCTCCAAAAGCATTGGAAAAGTGCAATTT
AGAAGCTGCTTTCTTTGAAGGTCATTTTTTGAAAGTGCTGTTCGACAGAATGGGAAGAATTCTT
GATCAGCCATATGATGTAAACTTACAAGTAACCTCAGTGTTATCTAGACTTTCTCTCTTCCCTC
ATCCACACATCCACGAGTACCTTTTGGATCCTTACGTGAACCTCGCTCCTGGCTGTAGATCTCT
CTTCTCTGTAATTGTCAGGGTTGTTGGAGACCTTATGCTTCGAATCCAGCGTATTCAAGACTTT
ACTCCCAAGCTTCTGTTAGTCAGAAAGCGGTTACTTGGTTTGGAACCTGAAGGCCCTATTATTG
ACCACATCACACTGCTAGAGGGTGTGATTGTGTTAGAAGAGTTCTGTAAGGAGCTGGCGGCAAT
CGCATTTGTAAAATATCATGCTTCCTCCACACCATAAATAACATCTTTCATGTAACTGGGGGAA
CAGAACTACTGTGTACATTTCACCAAAAAAGACTCAGTTCCACCCAGCCACAAGAGGATAAAAA
GCCTTTTTAAACGCAGTATTGCTGTAAACTGGACAGAACCATTAAGAACCTATTGAGTGGACAT
TCTTGGTGAAATGTTGTATAATGTTGTTTTCATTGGCTTTATCATAATGGTTCTATATATACAA
TTGCACATTGTTGAATCCAGGATACAATCAAAGGAACTTCAGGAAATAAGCATTTCTAATGACT
GTGAAAAGCTGCAATATTTCCAATGTCATGACTTTGATGATATTTCTGTTATATTAATGTCCTT
TTAGGTAGCAAGGCATTTTGACATTCTCTGGGACTCAAATGCTTGTATTCTTTTGGATTAATAA
GTAGCAAAAAAAAATCACTAATTTTATAACTTTTTAAGGTCAGAATTCTTATCAAACAAAATAT
GAAAACTGTAAATGAGAAAAAAATACAATTCAGAAACCATTGAATGAATTAATTATAGGCGATA
AAAATGTGTAGAGCACCATTAACTTTCTTCAGCTTTTTTAAGAATAACAATTTAATATGATAAA
TTCTTGATTAATATAATATATCTATATTTTTAAAGAAATGTTCTTTTACTCTTTTGTGCACATA
GCCATGTTAGTGATTTTCTTCATGTGTGGGTCCCAGTTTATTTAAACTGTGTCGTTTTCGCAGC
AGTGTTCAATTTGCTCACCATTGGTAGTGTTTGCTAAAATTGTATTTTTTTAAGCTAAGTAACA
TGTACTGGGTTGAGAACCTTTTTCCCCCCTCTCCCTCTCAGAAAATTGCTTTATAAAATTGCTT
TATAATTTGATTTTCTTACTGAAACGCATGGTGGTGTCTAGGTGGGGAACTGACTGATAACCCT
TGGCAGCAATCAAAGTGCCAGTGGCTCCTCGATGTTTACATTTTTTTCTATTTTGTTCAGTCTT
TTGTTTTAAATGATTCTAAAGAGATTAAAGAAAACAGAGTTTTAAATGTCCTATTTACATGTTA
AAGGATTTGGGGAAATTGGGTATGTATGTGAATGGGTGTACATGTAGGAACCTGTAGTTCAGCA
AAGCTGCGCTGGGCACAGCATGCTTGTACTTGATTGACAAAATCGTGTTTGCCAGTCCACTTTC
TATTTTTCCTTTAAGTGATGCTGATCACTCAAATAATGCTTTTAAGCTATTGTTTGTTTTTATT
TGACATGTTAAGCCGCAGCACTTTCTTCTTCATCTTTCCATTTACTGATATTTGGGGGAACAGG
CTATCAAAGGTTCCGGCTTGAAGGGAACTGTCACTACCCCCTCTAGGAAGTTATTTTATGTAGC
ATGTTTGCATATACGCATTGTGTGGCATGTGCATAGAGGCTTGTTTTACACCTATCTGCTCATT
TTGTTGTGTTAGCTTTTCTGGTTTATTTCATAGTTTGTTCTTGCTATTTATTAAGAACAGAATA
TCAAAAGATTATGAATAGCCTCAGCTCTAGAATGCTTACCACTGTTAAAACAACAAAAAGACTA
AACCTCTAATTTCATGCAAATCTTTGTTAGCTTATTCTAAGAAATTTATTAAGTAAAACAAAGA
AAAAACAGAAGTGGGAGATAGTTATTTTGTGCGTAATTTTCTTTAAATCATTTTGAATGATGTG
AAGGCATTCAGTTTGCTGTATTTTTTTAATCACTTCATACAAGGAAAACTTCGACATTTACATT
TCTAGATGTAGTAACAGTCTACTTTGATATATGAGTATTTAAACTAAGGCATTAAGAGATATTA
GATATTTCTTAATGTTTTCATAGTGCTCAATAGGTGTAGTAGCAATGATATTACCTCTGAAACC
AAATACTCTTTTATCCTTGATTCCACTATGGGACCTTATAACTAGTCCATGAAACCAAGCTCAG
AAAAGCTTTAACTCTTATATTTGTGTATATGTATGCTGCTTCTGAAAATATAATTTTTCTAAGT
TGTTGTAATGACTTTAATTTGTAATCAGCTAAGGCTTAAGATTTCATTTGTTTCTAAGTTTCTG
TTTTTCATCCCTTCTTTTTTCTTTTATATTTAGTTCAGACCTAGAGCCAGTAGAAGCTCTCACA
GTGAGTTCAATTTGTTAGTGAAACATTGTACTGCATCACCAGTTTTTCTTACCTTCTGTTGACA
GCTGAATATTTCTGTTACTCAGTACTTGCAAAAACAGTAACTAAAATGCACTATGCTGAGTGGA
AAGCACCGTCATAACAATTGATTGCCATAGCAAGTTCCAAAGTGAATTTCAGCCTTGCTTCACA
TTTGTATCAATAAATATGCACATTTTTTAAAACTTTCTAACAATATAGTCTTTGGATTTGTTTT
TAGTTATGAGCCGCATTCTTTACTTGATAGAACTCAGATTTGTCTTAGCCTATTGCCATATAGT
ACTCACCTTATAACTATGTAACTTTCTCGTAATGTATCTGTTTGTGCAATATGGAAGCTGTGAG
TGGATTCATAGCTTTTTGGTTTAATTGTACATTATTGTGTGTGTATATATGTATATATGTATAT
ATATAAGGACCAAAATTCTTAGCTCGCTTACACTGTTGCTAGTGTAAACATTGTTACACTTAAT
TTTACAGGGCACAAATTATGGAATTACTTCATAAATTCATGGTAATGTTTTCATAAATTATTGC
ATTAACATACAATTGCCATTTAATTATGAAGTCCATCAGTATTGACAGAAGACGTTACAGTGAA
GTGCTAAAACCACACTATATGGTAATTATATTTTGGGTTATGTAGTAAATCAAATATGCATGTC
ATTGTGACACTTTATGTGTTAAAACATGGTAGATAATCACATTTTCTGGGCCCTGTAAAATAGT
GTTACTGTAATACTCTGTTTTGCCTCCTGCCTTGTTTACATTAAACAGGATATTTGGTAAATTT
TTTTGTATTGAAAGTTGTGTAGGTTACTGACAGTGTTACCAGCGTCTGGAATTCTTGGTCCCTC
CGTGGAGAAACTCTTCAGATGGTCATTGTGTACCTACTCTCTCTTCAAAGGAAGTTGTGATCAA
GTTCAACTTTTTGTGCTAACAATGCATGCAGGACTAAGAGGGATGATCTAAAAAATAAATAATG
TAATTTAAACAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001128523	(Get FASTA)	NCBI Sequence Viewer
	NP_065991	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH37207	(Get FASTA)	NCBI Sequence Viewer
	BAB13426	(Get FASTA)	NCBI Sequence Viewer
	CAI45992	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000358249.1
	ENSP00000358251
	ENSP00000358251.4
	ENSP00000358253
	ENSP00000358253.3
	ENSP00000411924.1
	ENSP00000518239.1
GenBank Protein	Q5W0V3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001128523 ⟸ NM_001135051
- Peptide Label:	isoform b
- UniProtKB:	A0AA34QVS8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSKFTSILQHAVEALAPSLPLQEDFVYHWKAITHYYIETSDDKAPVTDTNIPSHLEQMLDILV QEENERESGETGPCMEYLLHHKILETLYTLGKADCPPGMKQQVLVFYTKLLGRIRQPLLPHINV HRPVQKLIRLCGEVLATPTENEEIQFLCIVCAKLKQDPYLVNFFLENKMKSLASKGVPNVISED TLKGQDSLSTDTGQSRQPEELSGATGMEQTELEDEPPHQMDHLSTSLDNLSVTSLPEASVVCPN QDYNLVNSLLNLTRSPDGRIAVKACEGLMLLVSLPEPAAAKCLTQSTCLCELLTDRLASLYKAL PQSVDPLDIETVEAINWGLDSYSHKEDASAFPGKRALISFLSWFDYCDQLIKEAQKTAAVALAK AVHERFFIGVMEPQLMQTSEMGILTSTALLHRIVRQVTSDVLLQEMVFFILGEQREPETLAEIS RHPLRHRLIEHCDHISDEISIMTLRMFEHLLQKPNEHILYNLVLRNLEERNYTEYKPLCPEDKD VVENGLIAGAVDLEEDPLFTDISPENTLPNQEWLSSSPPATPDHPKNDGKTEVHKIVNSFLCLV PDDAKSSYHVEGTGYDTYLRDAHRQFRDYCAICLRWEWPGSPKALEKCNLEAAFFEGHFLKVLF DRMGRILDQPYDVNLQVTSVLSRLSLFPHPHIHEYLLDPYVNLAPGCRSLFSVIVRVVGDLMLR IQRIQDFTPKLLLVRKRLLGLEPEGPMQTLPSWW hide sequence

RefSeq Acc Id:	NP_065991 ⟸ NM_020940
- Peptide Label:	isoform a
- UniProtKB:	Q8IY76 (UniProtKB/Swiss-Prot), Q5W0V2 (UniProtKB/Swiss-Prot), Q5H9P7 (UniProtKB/Swiss-Prot), Q9HCH2 (UniProtKB/Swiss-Prot), Q5W0V3 (UniProtKB/Swiss-Prot), A0AA34QVS8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSKFTSILQHAVEALAPSLPLQEDFVYHWKAITHYYIETSDDKAPVTDTNIPSHLEQMLDILV QEENERESGETGPCMEYLLHHKILETLYTLGKADCPPGMKQQVLVFYTKLLGRIRQPLLPHINV HRPVQKLIRLCGEVLATPTENEEIQFLCIVCAKLKQDPYLVNFFLENKMKSLASKGVPNVISED TLKGQDSLSTDTGQSRQPEELSGATGMEQTELEDEPPHQMDHLSTSLDNLSVTSLPEASVVCPN QDYNLVNSLLNLTRSPDGRIAVKACEGLMLLVSLPEPAAAKCLTQSTCLCELLTDRLASLYKAL PQSVDPLDIETVEAINWGLDSYSHKEDASAFPGKRALISFLSWFDYCDQLIKEAQKTAAVALAK AVHERFFIGVMEPQLMQTSEMGILTSTALLHRIVRQVTSDVLLQEMVFFILGEQREPETLAEIS RHPLRHRLIEHCDHISDEISIMTLRMFEHLLQKPNEHILYNLVLRNLEERNYTEYKPLCPEDKD VVENGLIAGAVDLEEDPLFTDISPENTLPNQEWLSSSPPATPDHPKNDGKTEVHKIVNSFLCLV PDDAKSSYHVEGTGYDTYLRDAHRQFRDYCAICLRWEWPGSPKALEKCNLEAAFFEGHFLKVLF DRMGRILDQPYDVNLQVTSVLSRLSLFPHPHIHEYLLDPYVNLAPGCRSLFSVIVRVVGDLMLR IQRIQDFTPKLLLVRKRLLGLEPEGPIIDHITLLEGVIVLEEFCKELAAIAFVKYHASSTP hide sequence

RefSeq Acc Id:

ENSP00000411924 ⟸ ENST00000411414

RefSeq Acc Id:

ENSP00000358253 ⟸ ENST00000369250

RefSeq Acc Id:

ENSP00000358251 ⟸ ENST00000369248

RefSeq Acc Id:

ENSP00000358249 ⟸ ENST00000369246

RefSeq Acc Id:

ENSP00000518239 ⟸ ENST00000710382

Protein Domains

FHF complex subunit HOOK-interacting protein C-

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5W0V3-F1-model_v2	AlphaFold	Q5W0V3	1-765	view protein structure

Promoters

RGD ID:

7218733

Promoter ID:

EPDNEW_H15112

Type:

initiation region

Name:

FAM160B1_1

Description:

family with sequence similarity 160 member B1

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	10	114,821,790 - 114,821,850	EPDNEW

RGD ID:

6787713

Promoter ID:

HG_KWN:11272

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000369246, ENST00000392942, NM_020940, OTTHUMT00000050500

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	116,571,334 - 116,571,834 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29320	AgrOrtholog
COSMIC	FHIP2A	COSMIC
Ensembl Genes	ENSG00000151553	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000369246.1	UniProtKB/TrEMBL
	ENST00000369248	ENTREZGENE
	ENST00000369248.9	UniProtKB/Swiss-Prot
	ENST00000369250	ENTREZGENE
	ENST00000369250.7	UniProtKB/Swiss-Prot
	ENST00000411414.1	UniProtKB/TrEMBL
	ENST00000710382.1	UniProtKB/TrEMBL
GTEx	ENSG00000151553	GTEx
HGNC ID	HGNC:29320	ENTREZGENE
Human Proteome Map	FHIP2A	Human Proteome Map
InterPro	FHIP_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FHIP_KELAA_motif	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RetinoicA-induced_16-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:57700	UniProtKB/Swiss-Prot
NCBI Gene	57700	ENTREZGENE
OMIM	617312	OMIM
PANTHER	FHF COMPLEX SUBUNIT HOOK INTERACTING PROTEIN 2A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR21705	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF5917	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KELAA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RAI16-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0AA34QVS8	ENTREZGENE, UniProtKB/TrEMBL
	F16B1_HUMAN	UniProtKB/Swiss-Prot
	Q5H9P7	ENTREZGENE
	Q5W0V1_HUMAN	UniProtKB/TrEMBL
	Q5W0V2	ENTREZGENE
	Q5W0V3	ENTREZGENE
	Q5W0V4_HUMAN	UniProtKB/TrEMBL
	Q8IY76	ENTREZGENE
	Q9HCH2	ENTREZGENE
UniProt Secondary	Q5H9P7	UniProtKB/Swiss-Prot
	Q5W0V2	UniProtKB/Swiss-Prot
	Q8IY76	UniProtKB/Swiss-Prot
	Q9HCH2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2021-01-25	FHIP2A	FHF complex subunit HOOK interacting protein 2A	FAM160B1	family with sequence similarity 160 member B1	Symbol and/or name change	19259463	PROVISIONAL
2015-11-24	FAM160B1	family with sequence similarity 160 member B1		family with sequence similarity 160, member B1	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)

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