FAM220A (family with sequence similarity 220 member A)

Gene: FAM220A (family with sequence similarity 220 member A) Homo sapiens

Analyze

Symbol:

FAM220A

Name:

family with sequence similarity 220 member A

RGD ID:

1606484

HGNC Page

HGNC:22422

Description:

Predicted to enable STAT family protein binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ACPIN1; acrosomal protein 1; C7orf70; family with sequence similarity 220, member A; MGC12966; SIPAR; STAT3-interacting protein as a repressor

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

FAM220BP

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	7	6,329,411 - 6,348,967 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	6,329,411 - 6,348,981 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	6,369,042 - 6,388,598 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	6,335,565 - 6,355,115 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	6,346,541 - 6,366,073 (+)	NCBI		Celera
Cytogenetic Map	7	p22.1	NCBI
HuRef	7	6,240,692 - 6,260,128 (-)	NCBI		HuRef
CHM1_1	7	6,368,638 - 6,388,157 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	6,448,805 - 6,468,359 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	6,415,393 - 6,434,949 (-)	NCBI

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

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

1,2-dimethylhydrazine (ISO)

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

2-hydroxypropanoic acid (EXP)

3,3',4,4',5-pentachlorobiphenyl (ISO)

acrylamide (ISO)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

copper(II) sulfate (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

dibenzo[a,l]pyrene (ISO)

doxorubicin (EXP)

endosulfan (ISO)

folic acid (ISO)

N-methyl-4-phenylpyridinium (ISO)

ozone (EXP,ISO)

paracetamol (EXP,ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

rac-lactic acid (EXP)

rotenone (ISO)

sunitinib (EXP)

temozolomide (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

urethane (EXP)

valproic acid (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of transcription by RNA polymerase II (IBA,IEA,ISO)

Cellular Component

acrosomal vesicle (IEA,ISS)

cytoplasm (IEA)

cytoplasmic vesicle (IEA)

nucleus (IBA,IEA)

Molecular Function

protein binding (IPI)

STAT family protein binding (IBA,IEA)

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:12477932	PMID:12853948	PMID:14702039	PMID:15342556	PMID:19659802	PMID:21873635	PMID:23917203	PMID:26026268	PMID:32296183	PMID:37704626

Genomics

Comparative Map Data

FAM220A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	6,329,411 - 6,348,967 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	6,329,411 - 6,348,981 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	6,369,042 - 6,388,598 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	6,335,565 - 6,355,115 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	6,346,541 - 6,366,073 (+)	NCBI		Celera
Cytogenetic Map	7	p22.1	NCBI
HuRef	7	6,240,692 - 6,260,128 (-)	NCBI		HuRef
CHM1_1	7	6,368,638 - 6,388,157 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	6,448,805 - 6,468,359 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	6,415,393 - 6,434,949 (-)	NCBI

Fam220a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	143,534,475 - 143,550,286 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	143,534,461 - 143,550,286 (+)	Ensembl		GRCm39 Ensembl
GRCm39 Ensembl	5	143,534,463 - 143,550,286 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	143,548,720 - 143,564,531 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	143,548,708 - 143,564,531 (+)	Ensembl	GRCm38		mm10	GRCm38
GRCm38.p6 Ensembl	5	143,548,706 - 143,564,531 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	144,309,574 - 144,325,393 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	143,804,343 - 143,820,144 (+)	NCBI		MGSCv36	mm8
Celera	5	140,595,338 - 140,611,144 (+)	NCBI		Celera
Cytogenetic Map	5	G2	NCBI
cM Map	5	82.27	NCBI

Fam220a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	16,111,593 - 16,127,584 (-)	NCBI		GRCr8
mRatBN7.2	12	10,997,969 - 11,013,962 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	10,997,740 - 11,016,501 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	11,805,254 - 11,821,251 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	12,428,542 - 12,444,538 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	11,453,553 - 11,469,566 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	13,043,038 - 13,067,043 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	13,043,038 - 13,067,341 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	15,088,130 - 15,110,348 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	11,341,686 - 11,343,288 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	12	12,792,738 - 12,808,579 (-)	NCBI		Celera
Cytogenetic Map	12	p11	NCBI

Fam220a
(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_004955460	13,329,417 - 13,335,986 (+)	NCBI	ChiLan1.0	ChiLan1.0

LOC100683001
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	11,692,532 - 11,711,505 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	13,317,709 - 13,336,687 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	11,693,112 - 11,712,092 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	6	11,569,420 - 11,588,404 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	11,548,525 - 11,567,497 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	11,775,631 - 11,795,213 (-)	NCBI		UU_Cfam_GSD_1.0

Fam220a
(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_024409344	139,778,284 - 139,792,475 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936750	165,233 - 166,026 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936750	152,866 - 166,982 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LOC110260073
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	3	4,821,544 - 4,848,691 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

FAM220A
(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	28	15,538,085 - 15,560,278 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	28	15,539,047 - 15,539,826 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666102	516,560 - 537,110 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fam220a
(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 1.0	NW_004624740	31,009,409 - 31,010,170 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FAM220A
13 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	copy number loss	See cases [RCV000050923]	Chr7:6106402..11012657 [GRCh38] Chr7:6146033..11052284 [GRCh37] Chr7:6112559..11018809 [NCBI36] Chr7:7p22.1-21.3	pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	copy number loss	See cases [RCV000052256]	Chr7:5062000..6692258 [GRCh38] Chr7:5101631..6731889 [GRCh37] Chr7:5068157..6698414 [NCBI36] Chr7:7p22.1	pathogenic
GRCh38/hg38 7p22.1(chr7:6137098-6398566)x1	copy number loss	See cases [RCV000052279]	Chr7:6137098..6398566 [GRCh38] Chr7:6176729..6438197 [GRCh37] Chr7:6143255..6404722 [NCBI36] Chr7:7p22.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	copy number gain	See cases [RCV000053408]	Chr7:4876621..6492003 [GRCh38] Chr7:4916252..6531634 [GRCh37] Chr7:4882778..6498159 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3	copy number gain	See cases [RCV000053528]	Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]\|See cases [RCV000053529]	Chr7:54185..8274834 [GRCh38] Chr7:54185..8314464 [GRCh37] Chr7:149268..8280989 [NCBI36] Chr7:7p22.3-21.3	pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	copy number gain	See cases [RCV000515563]	Chr7:2789546..9066894 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	copy number gain	See cases [RCV000136557]	Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	copy number gain	See cases [RCV000136649]	Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2	pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	copy number gain	See cases [RCV000136731]	Chr7:54185..6638027 [GRCh38] Chr7:54185..6677658 [GRCh37] Chr7:149268..6644183 [NCBI36] Chr7:7p22.3-22.1	pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	copy number gain	See cases [RCV000137524]	Chr7:45130..7252065 [GRCh38] Chr7:45130..7291696 [GRCh37] Chr7:140213..7258221 [NCBI36] Chr7:7p22.3-21.3	pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	copy number gain	See cases [RCV000137824]	Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	copy number gain	See cases [RCV000138729]	Chr7:5331115..6340621 [GRCh38] Chr7:5370746..6380252 [GRCh37] Chr7:5337272..6346777 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	copy number gain	See cases [RCV000139037]	Chr7:5331115..6751518 [GRCh38] Chr7:5370746..6791149 [GRCh37] Chr7:5337272..6757674 [NCBI36] Chr7:7p22.1	likely pathogenic
GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	copy number gain	See cases [RCV000140742]	Chr7:6213720..6697571 [GRCh38] Chr7:6253351..6737202 [GRCh37] Chr7:6219876..6703727 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	copy number loss	See cases [RCV000142488]	Chr7:6257137..6575271 [GRCh38] Chr7:6296768..6614902 [GRCh37] Chr7:6263293..6581427 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	copy number gain	See cases [RCV000143060]	Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	copy number gain	See cases [RCV000143586]	Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3	copy number gain	See cases [RCV000240466]	Chr7:6202675..6579535 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	copy number gain	See cases [RCV000449446]	Chr7:183556..12746636 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3	copy number gain	See cases [RCV000449347]	Chr7:43360..17656861 [GRCh37] Chr7:7p22.3-21.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	copy number gain	See cases [RCV000510652]	Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3	pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	copy number gain	See cases [RCV000510275]	Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3	pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	copy number gain	See cases [RCV000511909]	Chr7:4839046..7110343 [GRCh37] Chr7:7p22.1	likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	copy number gain	See cases [RCV000511772]	Chr7:43360..14664158 [GRCh37] Chr7:7p22.3-21.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	copy number gain	See cases [RCV000510950]	Chr7:43360..12098696 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	copy number gain	See cases [RCV000512505]	Chr7:43360..11567351 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6037640-6540147)x3	copy number gain	not provided [RCV000682851]	Chr7:6037640..6540147 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	copy number gain	not provided [RCV000682900]	Chr7:4388620..7302293 [GRCh37] Chr7:7p22.2-21.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3	copy number gain	not provided [RCV000746277]	Chr7:10239..13116278 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6385256-6431775)	copy number loss	Intellectual disability, autosomal dominant 48 [RCV000767795]	Chr7:6385256..6431775 [GRCh37] Chr7:7p22.1	pathogenic
GRCh37/hg19 7p22.1(chr7:6262721-6488220)x1	copy number loss	not provided [RCV000849568]	Chr7:6262721..6488220 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6241078-6394807)x3	copy number gain	not provided [RCV000849973]	Chr7:6241078..6394807 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6065235-6384110)x1	copy number loss	not provided [RCV001005900]	Chr7:6065235..6384110 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6278609-6415520)x1	copy number loss	not provided [RCV001005902]	Chr7:6278609..6415520 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6290521-6535060)x3	copy number gain	not provided [RCV000849690]	Chr7:6290521..6535060 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6107516-6567122)x1	copy number loss	not provided [RCV001005901]	Chr7:6107516..6567122 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	copy number gain	not provided [RCV000848100]	Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1	pathogenic
GRCh37/hg19 7p22.1(chr7:5868560-6480658)x3	copy number gain	not provided [RCV000846261]	Chr7:5868560..6480658 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6339213-6415520)x3	copy number gain	not provided [RCV000846849]	Chr7:6339213..6415520 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	copy number gain	not provided [RCV001005891]	Chr7:1648373..10627513 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	copy number gain	not provided [RCV001259436]	Chr7:5919587..6762394 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6237905-6443802)x3	copy number gain	not provided [RCV001259437]	Chr7:6237905..6443802 [GRCh37] Chr7:7p22.1	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3	copy number gain	not provided [RCV001259435]	Chr7:6183858..7137555 [GRCh37] Chr7:7p22.1	uncertain significance
NC_000007.13:g.(?_6026370)_(6744804_?)dup	duplication	not provided [RCV002025469]	Chr7:6026370..6744804 [GRCh37] Chr7:7p22.1	uncertain significance
NC_000007.14:g.5986941_6669974dup	duplication	not provided [RCV001839146]	Chr7:5986941..6669974 [GRCh38] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	copy number gain	See cases [RCV002292426]	Chr7:43360..9649794 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	copy number gain	See cases [RCV002287567]	Chr7:43360..19485604 [GRCh37] Chr7:7p22.3-21.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_001037163.2(FAM220A):c.743A>G (p.Gln248Arg)	single nucleotide variant	not specified [RCV004236082]	Chr7:6330412 [GRCh38] Chr7:6370043 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3	copy number gain	not provided [RCV002475733]	Chr7:5907660..6483282 [GRCh37] Chr7:7p22.1	uncertain significance
NM_001037163.2(FAM220A):c.596A>G (p.Tyr199Cys)	single nucleotide variant	not specified [RCV004095852]	Chr7:6330559 [GRCh38] Chr7:6370190 [GRCh37] Chr7:7p22.1	likely benign
NM_001037163.2(FAM220A):c.485C>T (p.Pro162Leu)	single nucleotide variant	not specified [RCV004146832]	Chr7:6330670 [GRCh38] Chr7:6370301 [GRCh37] Chr7:7p22.1	likely benign
NM_001037163.2(FAM220A):c.557C>G (p.Ala186Gly)	single nucleotide variant	not specified [RCV004078537]	Chr7:6330598 [GRCh38] Chr7:6370229 [GRCh37] Chr7:7p22.1	uncertain significance
NM_001037163.2(FAM220A):c.448C>T (p.Pro150Ser)	single nucleotide variant	not specified [RCV004117468]	Chr7:6330707 [GRCh38] Chr7:6370338 [GRCh37] Chr7:7p22.1	uncertain significance
NM_001037163.2(FAM220A):c.220C>T (p.Leu74Phe)	single nucleotide variant	not specified [RCV004079952]	Chr7:6330935 [GRCh38] Chr7:6370566 [GRCh37] Chr7:7p22.1	uncertain significance
NM_001037163.2(FAM220A):c.683A>G (p.Lys228Arg)	single nucleotide variant	not specified [RCV004092839]	Chr7:6330472 [GRCh38] Chr7:6370103 [GRCh37] Chr7:7p22.1	uncertain significance
NM_001037163.2(FAM220A):c.254A>G (p.Tyr85Cys)	single nucleotide variant	not specified [RCV004094364]	Chr7:6330901 [GRCh38] Chr7:6370532 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	copy number gain	not provided [RCV003484665]	Chr7:43361..8890475 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	copy number gain	not specified [RCV003986687]	Chr7:6007649..6753402 [GRCh37] Chr7:7p22.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1659
Count of miRNA genes:	727
Interacting mature miRNAs:	822
Transcripts:	ENST00000313324, ENST00000524898, ENST00000530143, ENST00000533877, ENST00000578372
Prediction methods:	Microtar, 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

GDB:1317180

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,369,494 - 6,369,599	UniSTS	GRCh37
Build 36	7	6,336,019 - 6,336,124	RGD	NCBI36
Celera	7	6,365,514 - 6,365,619	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,241,146 - 6,241,251	UniSTS
CRA_TCAGchr7v2	7	6,415,847 - 6,415,952	UniSTS

RH66857

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,369,192 - 6,369,363	UniSTS	GRCh37
Build 36	7	6,335,717 - 6,335,888	RGD	NCBI36
Celera	7	6,365,750 - 6,365,921	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,240,844 - 6,241,015	UniSTS
CRA_TCAGchr7v2	7	6,415,545 - 6,415,716	UniSTS

D7S2122E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,369,236 - 6,369,401	UniSTS	GRCh37
Build 36	7	6,335,761 - 6,335,926	RGD	NCBI36
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,240,888 - 6,241,053	UniSTS
CRA_TCAGchr7v2	7	6,415,589 - 6,415,754	UniSTS
Stanford-G3 RH Map	7	251.0	UniSTS
GeneMap99-GB4 RH Map	7	49.91	UniSTS
NCBI RH Map	7	147.2	UniSTS
GeneMap99-G3 RH Map	7	251.0	UniSTS

G19861

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,369,192 - 6,369,363	UniSTS	GRCh37
Build 36	7	6,335,717 - 6,335,888	RGD	NCBI36
Celera	7	6,365,750 - 6,365,921	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,240,844 - 6,241,015	UniSTS
CRA_TCAGchr7v2	7	6,415,545 - 6,415,716	UniSTS

Clen35

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,382,857 - 6,383,113	UniSTS	GRCh37
Celera	7	6,352,018 - 6,352,256	UniSTS
HuRef	7	6,254,419 - 6,254,655	UniSTS
CRA_TCAGchr7v2	7	6,429,214 - 6,429,470	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

pharyngeal arch

High

Medium

1678

1750

1163

221

917

115

4264

1857

2962

307

1387

1352

122

956

2752

Low

761

1234

563

403

1025

350

339

772

111

261

248

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001037163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF533707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC140712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC142977	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP354450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH878731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000313324 ⟹ ENSP00000317289

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,329,411 - 6,348,967 (-)	Ensembl

RefSeq Acc Id:

ENST00000524898 ⟹ ENSP00000432444

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,330,795 - 6,338,693 (-)	Ensembl

RefSeq Acc Id:

ENST00000530143 ⟹ ENSP00000436886

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,330,828 - 6,348,975 (-)	Ensembl

RefSeq Acc Id:

ENST00000533877

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,331,164 - 6,348,981 (-)	Ensembl

RefSeq Acc Id:

NM_001037163 ⟹ NP_001032240

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	6,329,411 - 6,348,967 (-)	NCBI
GRCh37	7	6,369,040 - 6,388,590 (-)	RGD
Build 36	7	6,335,565 - 6,355,115 (-)	NCBI Archive
Celera	7	6,346,541 - 6,366,073 (+)	RGD
HuRef	7	6,240,692 - 6,260,128 (-)	RGD
CHM1_1	7	6,368,638 - 6,388,157 (-)	NCBI
T2T-CHM13v2.0	7	6,448,805 - 6,468,359 (-)	NCBI
CRA_TCAGchr7v2	7	6,415,393 - 6,434,949 (-)	ENTREZGENE

Sequence:

show sequence

AGGCTGCGCGGCCAGGCTGGTACAGGCGGCTGCTCGCGGAGGCACTTCTCCGAGCGTGACGTGC
GGACTCCGCTCCACTGCGGCCCGCCCGCCCGCCGGTCTAGCCGCCGCCTCCTTCGCTCCCTGAG
CACGCCAGGCGAGGGTCAGCTGCCGGGGCGACGCGGCGCGGAGAGGGCGGGCGGGGGGGCTGTG
GGAGCGCCGGTCTCTATATGGCGGCGGCTCTGTCGGGCCTGGCTGTCCGGCTCTCGCGCTCGGC
CGCCGCCCGCTCCTATGGGGTCTTCTGCAAGGGGCTGACTCGCACGCTGCTCATCTTCTTCGAC
CTGGCCTGGCGGCTGCGTATCAACTTCCCCTACCTCTACATCGTGGCTTCCATGATGCTCAACG
TCCGCCTGCAGGTTCATATTGAGATCCATTGAAGGCCCTCCCAGACTGACGAAGGCGTGACCTC
AGGCCCACCGCATCCAAGAACACGAAGCATGAGGGACAGAAGAGGGCCCCTCGGCACCTGCCTG
GCACAAGTGCAGCAGGCCGGAGGAGGTGACTCGGACAAACTATCATGCAGCCTTAAGAAAAGAA
TGCCGGAGGGCCCTTGGCCTGCAGATGCACCCTCCTGGATGAATAAGCCTGTGGTTGATGGAAA
TTCACAAAGTGAGGCATTATCACTGGAAATGAGAAAGGATCCGAGCGGGGCTGGCCTCTGGCTT
CACAGTGGCGGCCCAGTGCTTCCATATGTGAGAGAATCAGTAAGAAGAAATCCAGCCTCAGCAG
CCACTCCGAGCACAGCCGTGGGTTTGTTCCCTGCTCCAACAGAGTGTTTTGCTCGGGTGTCCTG
CAGTGGTGTTGAAGCTCTGGGGCGGCGAGACTGGCTGGGAGGAGGGCCCAGGGCCACTGACGGC
CACAGAGGACAGTGCCCCAAAGGAGAGCCTCGGGTGTCACGACTGCCACGCCATCAAAAAGTGC
CGGAAATGGGAAGTTTTCAGGATGACCCACCAAGTGCTTTTCCCAAGGGTCTGGGCTCTGAGTT
GGAACCCGCTTGCCTGCACTCCATCCTGTCTGCAACGCTGCACGTGTATCCCGAAGTGCTCCTG
AGTGAGGAGACAAAACGCATTTTCCTTGACCGTTTAAAGCCCATGTTTTCAAAGCAAACAATAG
AATTCAAGAAAATGCTTAAAAGCACCTCAGATGGTCTGCAGATAACACTGGGGTTACTGGCTCT
GCAACCTTTTGAATTAGCAAATACATTATGCCATAGTTAAGGTACAAGCAGAACAATACCAATA
GATTAATTTTAAGAGTTGTCTTAGAATGATTTCTTTCGCATTAAGTCTGGATGCAAACTGTGCA
GCCCTTAGGTTCCTGCTGTAGTTTTGTACGACCTGGCAGACTTAAAGTAAATTGAGTTTAAATT
CAAAGCCAGTTGATGCGGAAGGAACTTTTTTGGCATGTGTTAAATTGTGCTTTAAAAGACATAT
AAAGAATTGGGAAACATTTCAGGAGACGATCATAGCCTGTATAAATACCAGATTAGAACATACG
GATTTACCATGAAGTTCTGTCTTCAACATCCATTCTAAAGGGCTACTGTCCCAAATCCTGTGTG
TCCTTTTGACTTGTCTGATCACCCAATGGAAGTGGATACTTGTAAAGTCTACACCACTGTACTT
GGCGTTAAATCTTGCTGAATTCGTGGTAAGCTGTTACCATGTCTACATTTTGTAGAATGATTTT
GGTCTGCAGCAAAATTCGATTTCACTTCTCATACCCCTTTCCTTCCACTTGAAATGCAATTTAG
ACAGAGGCCCTGTGGTGAAAGTTGCAATATTAAGTTTACCTTTAGAAGATCCCTTCTCAAACTC
AGAACCCTAGCAGTGTTACCTTAAACAAAAATGAGCTCGAGAAAAAAGTAGCTCAGTTACAGAG
AAGCAAATCGAGTTATTTCCCACATAAAAAGTTTCCCAGATTCTAAGAATTGCAGTATCCTGTA
CCCTAAAATTTTTCAAGGTGACTCCTGTTGTCGTCTGTTGATAACTTTAATAAAGGTCATTTAA
GGACATAAGTTTTTAAAGACTCCCAAAGTGAAACTTAAACATTTTCGGGATTATCGATTGCATA
TATCAGTTTATGCTGTGTGCTGAATTACTATGCCATGTGCTATTTTAGTGTTTGGGGAAAATGA
AAAATAAAATTTGTTCTTTAGCTTAATAAATATGTCTTATTTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001032240	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06110	(Get FASTA)	NCBI Sequence Viewer
	AAI40713	(Get FASTA)	NCBI Sequence Viewer
	AAI42978	(Get FASTA)	NCBI Sequence Viewer
	AAQ09020	(Get FASTA)	NCBI Sequence Viewer
	BAC04076	(Get FASTA)	NCBI Sequence Viewer
	EAW55045	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000317289
	ENSP00000317289.4
	ENSP00000432444.1
	ENSP00000436886.1
GenBank Protein	Q7Z4H9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001032240 ⟸ NM_001037163

- UniProtKB:

Q8NA52 (UniProtKB/Swiss-Prot), Q75ML2 (UniProtKB/Swiss-Prot), Q9BRR7 (UniProtKB/Swiss-Prot), Q7Z4H9 (UniProtKB/Swiss-Prot), B9EIK0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MRDRRGPLGTCLAQVQQAGGGDSDKLSCSLKKRMPEGPWPADAPSWMNKPVVDGNSQSEALSLE
MRKDPSGAGLWLHSGGPVLPYVRESVRRNPASAATPSTAVGLFPAPTECFARVSCSGVEALGRR
DWLGGGPRATDGHRGQCPKGEPRVSRLPRHQKVPEMGSFQDDPPSAFPKGLGSELEPACLHSIL
SATLHVYPEVLLSEETKRIFLDRLKPMFSKQTIEFKKMLKSTSDGLQITLGLLALQPFELANTL
CHS

hide sequence

RefSeq Acc Id:

ENSP00000436886 ⟸ ENST00000530143

RefSeq Acc Id:

ENSP00000317289 ⟸ ENST00000313324

RefSeq Acc Id:

ENSP00000432444 ⟸ ENST00000524898

Protein Domains

SIPAR

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7Z4H9-F1-model_v2	AlphaFold	Q7Z4H9	1-259	view protein structure

Promoters

RGD ID:

7209891

Promoter ID:

EPDNEW_H10691

Type:

initiation region

Name:

FAM220A_1

Description:

family with sequence similarity 220 member A

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	7	6,348,967 - 6,349,027	EPDNEW

RGD ID:

6805365

Promoter ID:

HG_KWN:56216

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_001037163

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	6,354,896 - 6,355,396 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:22422	AgrOrtholog
COSMIC	FAM220A	COSMIC
Ensembl Genes	ENSG00000178397	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000313324	ENTREZGENE
	ENST00000313324.9	UniProtKB/Swiss-Prot
	ENST00000524898.1	UniProtKB/TrEMBL
	ENST00000530143.1	UniProtKB/TrEMBL
GTEx	ENSG00000178397	GTEx
HGNC ID	HGNC:22422	ENTREZGENE
Human Proteome Map	FAM220A	Human Proteome Map
InterPro	FAM220A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SIPAR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84792	UniProtKB/Swiss-Prot
NCBI Gene	84792	ENTREZGENE
OMIM	616628	OMIM
PANTHER	PROTEIN FAM220A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR31980	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FAM220	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165617654	PharmGKB
UniProt	B9EIK0	ENTREZGENE, UniProtKB/TrEMBL
	E9PQC6_HUMAN	UniProtKB/TrEMBL
	E9PQY0_HUMAN	UniProtKB/TrEMBL
	F220A_HUMAN	UniProtKB/Swiss-Prot
	Q75ML2	ENTREZGENE
	Q7Z4H9	ENTREZGENE
	Q8NA52	ENTREZGENE
	Q9BRR7	ENTREZGENE
UniProt Secondary	Q75ML2	UniProtKB/Swiss-Prot
	Q8NA52	UniProtKB/Swiss-Prot
	Q9BRR7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM220A	family with sequence similarity 220 member A		family with sequence similarity 220, member A	Symbol and/or name change	5135510	APPROVED
2012-03-27	FAM220A	family with sequence similarity 220, member A	C7orf70	chromosome 7 open reading frame 70	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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