FAM107A (family with sequence similarity 107 member A) - Rat Genome Database

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Gene: FAM107A (family with sequence similarity 107 member A) Homo sapiens
Analyze
Symbol: FAM107A
Name: family with sequence similarity 107 member A
RGD ID: 1605094
HGNC Page HGNC:30827
Description: Predicted to enable actin binding activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; negative regulation of focal adhesion assembly; and regulation of cytoskeleton organization. Located in several cellular components, including focal adhesion; ruffle membrane; and stress fiber.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: actin-associated protein FAM107A; down-regulated in renal cell carcinoma 1; downregulated in renal cell carcinoma; DRR1; family with sequence similarity 107 member A transcript; family with sequence similarity 107, member A; FLJ30158; FLJ45473; TU3A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38358,564,117 - 58,627,610 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl358,564,117 - 58,627,610 (-)EnsemblGRCh38hg38GRCh38
GRCh37358,549,844 - 58,613,337 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36358,524,884 - 58,538,531 (-)NCBINCBI36Build 36hg18NCBI36
Celera358,563,266 - 58,576,915 (-)NCBICelera
Cytogenetic Map3p14.3-p14.2NCBI
HuRef358,646,246 - 58,660,421 (-)NCBIHuRef
CHM1_1358,499,976 - 58,513,625 (-)NCBICHM1_1
T2T-CHM13v2.0358,604,489 - 58,667,988 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
beta-hexachlorocyclohexane  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diethylstilbestrol  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
Erionite  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
inulin  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
morphine  (ISO)
nevirapine  (ISO)
nicotine  (ISO)
ozone  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
poly(I:C)  (ISO)
progesterone  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zearalenone  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:10564580   PMID:10702698   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334  
PMID:15489336   PMID:16169070   PMID:16189514   PMID:16344560   PMID:16381901   PMID:16432833   PMID:17213182   PMID:17353931   PMID:18813805   PMID:19787223   PMID:20298674   PMID:20453842  
PMID:20543869   PMID:20709424   PMID:21873635   PMID:22825356   PMID:24141773   PMID:25113059   PMID:25416956   PMID:25753555   PMID:28604741   PMID:28710449   PMID:29513927   PMID:29548818  
PMID:30021884   PMID:30446454   PMID:32296183   PMID:33831429   PMID:33961781   PMID:35414505   PMID:37977035  


Genomics

Comparative Map Data
FAM107A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38358,564,117 - 58,627,610 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl358,564,117 - 58,627,610 (-)EnsemblGRCh38hg38GRCh38
GRCh37358,549,844 - 58,613,337 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36358,524,884 - 58,538,531 (-)NCBINCBI36Build 36hg18NCBI36
Celera358,563,266 - 58,576,915 (-)NCBICelera
Cytogenetic Map3p14.3-p14.2NCBI
HuRef358,646,246 - 58,660,421 (-)NCBIHuRef
CHM1_1358,499,976 - 58,513,625 (-)NCBICHM1_1
T2T-CHM13v2.0358,604,489 - 58,667,988 (-)NCBIT2T-CHM13v2.0
Fam107a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391414,152,166 - 14,173,503 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1414,151,750 - 14,173,499 (+)EnsemblGRCm39 Ensembl
GRCm38148,296,270 - 8,317,607 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl148,296,274 - 8,318,023 (-)EnsemblGRCm38mm10GRCm38
MGSCv37149,128,792 - 9,142,290 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36147,090,034 - 7,103,532 (-)NCBIMGSCv36mm8
Celera143,915,368 - 3,928,913 (-)NCBICelera
Cytogenetic Map14A1NCBI
cM Map144.8NCBI
Fam107a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81519,038,726 - 19,060,644 (+)NCBIGRCr8
mRatBN7.21516,608,362 - 16,630,398 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1516,607,205 - 16,630,396 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1518,792,215 - 18,806,234 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01519,750,653 - 19,764,674 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01518,005,560 - 18,019,579 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01518,399,145 - 18,415,959 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1518,399,515 - 18,415,965 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01522,373,679 - 22,387,948 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41518,598,082 - 18,613,890 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11518,598,081 - 18,613,890 (+)NCBI
Celera1516,576,520 - 16,590,386 (+)NCBICelera
Cytogenetic Map15p14NCBI
Fam107a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554301,604,540 - 1,625,154 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554301,606,696 - 1,625,098 (+)NCBIChiLan1.0ChiLan1.0
FAM107A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2258,528,529 - 58,591,904 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1358,533,299 - 58,596,679 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0358,494,342 - 58,557,712 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1359,903,602 - 59,967,013 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl359,903,602 - 59,967,013 (-)Ensemblpanpan1.1panPan2
FAM107A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12032,047,132 - 32,099,815 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2032,047,625 - 32,097,585 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2031,972,238 - 32,024,790 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02032,290,839 - 32,367,014 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2032,290,813 - 32,367,011 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12031,771,584 - 31,824,038 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02032,127,412 - 32,179,954 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02032,299,684 - 32,352,403 (+)NCBIUU_Cfam_GSD_1.0
Fam107a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118169,300,479 - 169,347,766 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364732,438,626 - 2,484,071 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364732,438,995 - 2,483,746 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM107A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11340,276,896 - 40,369,708 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21344,285,776 - 44,316,537 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM107A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12219,859,853 - 19,923,256 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2219,859,809 - 19,923,487 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041146,897,733 - 146,961,399 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam107a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248225,579,690 - 5,582,321 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248225,577,686 - 5,593,608 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM107A
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3 copy number gain See cases [RCV000051469] Chr3:58532827..60193441 [GRCh38]
Chr3:58518554..60179169 [GRCh37]
Chr3:58493594..60154209 [NCBI36]
Chr3:3p14.3-14.2		 uncertain significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
NM_001282714.1(FAM107A):c.-377C>A single nucleotide variant Lung cancer [RCV000093609] Chr3:58627371 [GRCh38]
Chr3:58613098 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3 copy number gain See cases [RCV000142126] Chr3:58498793..60217173 [GRCh38]
Chr3:58484520..60202901 [GRCh37]
Chr3:58459560..60177941 [NCBI36]
Chr3:3p14.3-14.2		 uncertain significance
GRCh38/hg38 3p14.3-14.2(chr3:58534847-60199939)x3 copy number gain See cases [RCV000142665] Chr3:58534847..60199939 [GRCh38]
Chr3:58520574..60185667 [GRCh37]
Chr3:58495614..60160707 [NCBI36]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58494677-60076736)x3 copy number gain See cases [RCV000240101] Chr3:58494677..60076736 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3 copy number gain not provided [RCV000682261] Chr3:58498676..60210851 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58544968-58629390)x1 copy number loss not provided [RCV000682262] Chr3:58544968..58629390 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3 copy number gain not provided [RCV000848569] Chr3:58490107..60210773 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3 copy number gain not provided [RCV000848572] Chr3:58490107..60210773 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p14.3-14.2(chr3:58089516-58799748)x3 copy number gain not provided [RCV000742425] Chr3:58089516..58799748 [GRCh37]
Chr3:3p14.3-14.2		 benign
GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3 copy number gain not provided [RCV000846903] Chr3:58490107..60210773 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
NM_001076778.3(FAM107A):c.60A>G (p.Glu20=) single nucleotide variant not provided [RCV000929062] Chr3:58569801 [GRCh38]
Chr3:58555528 [GRCh37]
Chr3:3p14.3		 benign
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3 copy number gain See cases [RCV002285047] Chr3:58498676..60210851 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58498677-60210851)x3 copy number gain not provided [RCV002475728] Chr3:58498677..60210851 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
NM_001076778.3(FAM107A):c.67G>C (p.Glu23Gln) single nucleotide variant not specified [RCV004127084] Chr3:58569794 [GRCh38]
Chr3:58555521 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.121T>C (p.Ser41Pro) single nucleotide variant not specified [RCV004169579] Chr3:58569740 [GRCh38]
Chr3:58555467 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.146G>A (p.Arg49Gln) single nucleotide variant not specified [RCV004185481] Chr3:58569715 [GRCh38]
Chr3:58555442 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.307C>T (p.Arg103Trp) single nucleotide variant not specified [RCV004077092] Chr3:58567228 [GRCh38]
Chr3:58552955 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.413C>A (p.Thr138Asn) single nucleotide variant not specified [RCV004229122] Chr3:58566610 [GRCh38]
Chr3:58552337 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.272G>A (p.Arg91Gln) single nucleotide variant not specified [RCV004124372] Chr3:58567263 [GRCh38]
Chr3:58552990 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.209T>A (p.Val70Asp) single nucleotide variant not specified [RCV004167320] Chr3:58567326 [GRCh38]
Chr3:58553053 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.415A>G (p.Ser139Gly) single nucleotide variant not specified [RCV004101467] Chr3:58566608 [GRCh38]
Chr3:58552335 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.35T>C (p.Ile12Thr) single nucleotide variant not specified [RCV004215155] Chr3:58569826 [GRCh38]
Chr3:58555553 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.362C>T (p.Ala121Val) single nucleotide variant not specified [RCV004077986] Chr3:58566661 [GRCh38]
Chr3:58552388 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.365C>G (p.Pro122Arg) single nucleotide variant not specified [RCV004279892] Chr3:58566658 [GRCh38]
Chr3:58552385 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.26G>A (p.Arg9Gln) single nucleotide variant not specified [RCV004342230] Chr3:58569835 [GRCh38]
Chr3:58555562 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_001076778.3(FAM107A):c.125G>A (p.Arg42Gln) single nucleotide variant not specified [RCV004378480] Chr3:58569736 [GRCh38]
Chr3:58555463 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.417C>G (p.Ser139Arg) single nucleotide variant not specified [RCV004378482] Chr3:58566606 [GRCh38]
Chr3:58552333 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.47T>G (p.Met16Arg) single nucleotide variant not specified [RCV004378483] Chr3:58569814 [GRCh38]
Chr3:58555541 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001076778.3(FAM107A):c.416G>T (p.Ser139Ile) single nucleotide variant not specified [RCV004378481] Chr3:58566607 [GRCh38]
Chr3:58552334 [GRCh37]
Chr3:3p14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6624
Count of miRNA genes:1066
Interacting mature miRNAs:1315
Transcripts:ENST00000360997, ENST00000394481, ENST00000447756, ENST00000464064, ENST00000465970, ENST00000474531, ENST00000497310
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407048561GWAS697537_Hrheumatoid arthritis QTL GWAS697537 (human)5e-08rheumatoid arthritis35857111458571115Human
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
407232879GWAS881855_Hcolorectal cancer QTL GWAS881855 (human)0.000009colorectal cancer35856660258566603Human
406935931GWAS584907_Heducational attainment QTL GWAS584907 (human)3e-08educational attainment35858186658581867Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
407114104GWAS763080_Hblood protein measurement QTL GWAS763080 (human)0.000007blood protein measurementblood protein measurement (CMO:0000028)35858899058588991Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human

Markers in Region
D3S3406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,555,421 - 58,555,515UniSTSGRCh37
Build 36358,530,461 - 58,530,555RGDNCBI36
Celera358,568,843 - 58,568,937RGD
Cytogenetic Map3p21.1UniSTS
HuRef358,652,346 - 58,652,440UniSTS
Whitehead-YAC Contig Map3 UniSTS
1818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,550,072 - 58,550,153UniSTSGRCh37
Build 36358,525,112 - 58,525,193RGDNCBI36
Celera358,563,494 - 58,563,575RGD
Cytogenetic Map3p21.1UniSTS
HuRef358,646,474 - 58,646,555UniSTS
GeneMap99-GB4 RH Map3197.21UniSTS
NCBI RH Map3559.9UniSTS
SHGC-77037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,550,030 - 58,550,159UniSTSGRCh37
Build 36358,525,070 - 58,525,199RGDNCBI36
Celera358,563,452 - 58,563,581RGD
Cytogenetic Map3p21.1UniSTS
HuRef358,646,432 - 58,646,561UniSTS
TNG Radiation Hybrid Map335986.0UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
NCBI RH Map3559.9UniSTS
SHGC-77047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,563,212 - 58,563,348UniSTSGRCh37
Build 36358,538,252 - 58,538,388RGDNCBI36
Celera358,576,636 - 58,576,772RGD
Cytogenetic Map3p21.1UniSTS
HuRef358,660,142 - 58,660,278UniSTS
TNG Radiation Hybrid Map336021.0UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
NCBI RH Map3559.9UniSTS
RH41806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,551,269 - 58,551,506UniSTSGRCh37
Build 36358,526,309 - 58,526,546RGDNCBI36
Celera358,564,691 - 58,564,928RGD
Cytogenetic Map3p21.1UniSTS
HuRef358,647,671 - 58,647,908UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
NCBI RH Map3559.9UniSTS
D3S2857E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37358,551,214 - 58,551,357UniSTSGRCh37
Build 36358,526,254 - 58,526,397RGDNCBI36
Celera358,564,636 - 58,564,779RGD
Cytogenetic Map3p21.1UniSTS
HuRef358,647,616 - 58,647,759UniSTS
TNG Radiation Hybrid Map335990.0UniSTS
GeneMap99-GB4 RH Map3193.07UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001076778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB030702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF089853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF089854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM980503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP212425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX645008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA277819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB486334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT216507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU569833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000360997   ⟹   ENSP00000354270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,564,117 - 58,577,391 (-)Ensembl
Ensembl Acc Id: ENST00000394481   ⟹   ENSP00000377991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,564,117 - 58,577,764 (-)Ensembl
Ensembl Acc Id: ENST00000447756   ⟹   ENSP00000400858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,565,852 - 58,587,113 (-)Ensembl
Ensembl Acc Id: ENST00000464064   ⟹   ENSP00000419529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,565,461 - 58,577,388 (-)Ensembl
Ensembl Acc Id: ENST00000465970   ⟹   ENSP00000418038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,567,219 - 58,627,610 (-)Ensembl
Ensembl Acc Id: ENST00000474531   ⟹   ENSP00000419124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,565,461 - 58,627,610 (-)Ensembl
Ensembl Acc Id: ENST00000497310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,608,874 - 58,627,420 (-)Ensembl
Ensembl Acc Id: ENST00000649301   ⟹   ENSP00000497152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,564,126 - 58,627,577 (-)Ensembl
RefSeq Acc Id: NM_001076778   ⟹   NP_001070246
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,564,117 - 58,577,391 (-)NCBI
GRCh37358,549,841 - 58,613,337 (-)NCBI
Build 36358,524,884 - 58,538,531 (-)NCBI Archive
Celera358,563,266 - 58,576,915 (-)RGD
HuRef358,646,241 - 58,710,259 (-)NCBI
CHM1_1358,499,971 - 58,513,625 (-)NCBI
T2T-CHM13v2.0358,604,489 - 58,617,773 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282713   ⟹   NP_001269642
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,564,117 - 58,587,014 (-)NCBI
HuRef358,646,241 - 58,710,259 (-)NCBI
CHM1_1358,499,971 - 58,522,972 (-)NCBI
T2T-CHM13v2.0358,604,489 - 58,627,396 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282714   ⟹   NP_001269643
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,564,117 - 58,627,610 (-)NCBI
HuRef358,646,241 - 58,710,259 (-)NCBI
CHM1_1358,499,971 - 58,563,466 (-)NCBI
T2T-CHM13v2.0358,604,489 - 58,667,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007177   ⟹   NP_009108
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,564,117 - 58,577,391 (-)NCBI
GRCh37358,549,841 - 58,613,337 (-)NCBI
Build 36358,524,884 - 58,538,531 (-)NCBI Archive
Celera358,563,266 - 58,576,915 (-)RGD
HuRef358,646,241 - 58,710,259 (-)NCBI
CHM1_1358,499,971 - 58,513,625 (-)NCBI
T2T-CHM13v2.0358,604,489 - 58,617,773 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447370   ⟹   XP_047303326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,564,117 - 58,587,014 (-)NCBI
RefSeq Acc Id: XM_054345087   ⟹   XP_054201062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0358,604,489 - 58,627,396 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001070246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269642 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269643 (Get FASTA)   NCBI Sequence Viewer  
  NP_009108 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201062 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD16093 (Get FASTA)   NCBI Sequence Viewer  
  AAD16094 (Get FASTA)   NCBI Sequence Viewer  
  AAH10561 (Get FASTA)   NCBI Sequence Viewer  
  ACB71116 (Get FASTA)   NCBI Sequence Viewer  
  BAA82845 (Get FASTA)   NCBI Sequence Viewer  
  BAA83072 (Get FASTA)   NCBI Sequence Viewer  
  BAB70924 (Get FASTA)   NCBI Sequence Viewer  
  BAG51416 (Get FASTA)   NCBI Sequence Viewer  
  BAG54736 (Get FASTA)   NCBI Sequence Viewer  
  BAG60307 (Get FASTA)   NCBI Sequence Viewer  
  BAH14821 (Get FASTA)   NCBI Sequence Viewer  
  CAB43366 (Get FASTA)   NCBI Sequence Viewer  
  CAG33414 (Get FASTA)   NCBI Sequence Viewer  
  EAW65378 (Get FASTA)   NCBI Sequence Viewer  
  EAW65379 (Get FASTA)   NCBI Sequence Viewer  
  EAW65380 (Get FASTA)   NCBI Sequence Viewer  
  EAW65381 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354270
  ENSP00000354270.2
  ENSP00000377991
  ENSP00000377991.1
  ENSP00000400858
  ENSP00000400858.2
  ENSP00000418038.1
  ENSP00000419124
  ENSP00000419124.1
  ENSP00000419529.1
  ENSP00000497152.1
GenBank Protein O95990 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001070246   ⟸   NM_001076778
- Peptide Label: isoform a
- UniProtKB: J3KR61 (UniProtKB/Swiss-Prot),   B7ZAY5 (UniProtKB/Swiss-Prot),   B3KNQ4 (UniProtKB/Swiss-Prot),   Q96NH4 (UniProtKB/Swiss-Prot),   O95990 (UniProtKB/Swiss-Prot),   Q6IAM1 (UniProtKB/TrEMBL),   B3KY74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_009108   ⟸   NM_007177
- Peptide Label: isoform a
- UniProtKB: J3KR61 (UniProtKB/Swiss-Prot),   B7ZAY5 (UniProtKB/Swiss-Prot),   B3KNQ4 (UniProtKB/Swiss-Prot),   Q96NH4 (UniProtKB/Swiss-Prot),   O95990 (UniProtKB/Swiss-Prot),   Q6IAM1 (UniProtKB/TrEMBL),   B3KY74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269643   ⟸   NM_001282714
- Peptide Label: isoform c
- UniProtKB: B3KY74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269642   ⟸   NM_001282713
- Peptide Label: isoform b
- UniProtKB: B4DNP5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497152   ⟸   ENST00000649301
Ensembl Acc Id: ENSP00000419529   ⟸   ENST00000464064
Ensembl Acc Id: ENSP00000418038   ⟸   ENST00000465970
Ensembl Acc Id: ENSP00000354270   ⟸   ENST00000360997
Ensembl Acc Id: ENSP00000400858   ⟸   ENST00000447756
Ensembl Acc Id: ENSP00000377991   ⟸   ENST00000394481
Ensembl Acc Id: ENSP00000419124   ⟸   ENST00000474531
RefSeq Acc Id: XP_047303326   ⟸   XM_047447370
- Peptide Label: isoform X1
- UniProtKB: O95990 (UniProtKB/Swiss-Prot),   J3KR61 (UniProtKB/Swiss-Prot),   B7ZAY5 (UniProtKB/Swiss-Prot),   B3KNQ4 (UniProtKB/Swiss-Prot),   Q96NH4 (UniProtKB/Swiss-Prot),   B3KY74 (UniProtKB/TrEMBL),   Q6IAM1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201062   ⟸   XM_054345087
- Peptide Label: isoform X1
- UniProtKB: O95990 (UniProtKB/Swiss-Prot),   J3KR61 (UniProtKB/Swiss-Prot),   B7ZAY5 (UniProtKB/Swiss-Prot),   B3KNQ4 (UniProtKB/Swiss-Prot),   Q96NH4 (UniProtKB/Swiss-Prot),   B3KY74 (UniProtKB/TrEMBL),   Q6IAM1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95990-F1-model_v2 AlphaFold O95990 1-144 view protein structure

Promoters
RGD ID:6864840
Promoter ID:EPDNEW_H5585
Type:initiation region
Name:FAM107A_1
Description:family with sequence similarity 107 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5586  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,577,388 - 58,577,448EPDNEW
RGD ID:6864842
Promoter ID:EPDNEW_H5586
Type:initiation region
Name:FAM107A_2
Description:family with sequence similarity 107 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5585  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,587,014 - 58,587,074EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30827 AgrOrtholog
COSMIC FAM107A COSMIC
Ensembl Genes ENSG00000168309 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000360997 ENTREZGENE
  ENST00000360997.7 UniProtKB/Swiss-Prot
  ENST00000394481 ENTREZGENE
  ENST00000394481.5 UniProtKB/Swiss-Prot
  ENST00000447756 ENTREZGENE
  ENST00000447756.2 UniProtKB/Swiss-Prot
  ENST00000464064.5 UniProtKB/Swiss-Prot
  ENST00000465970.1 UniProtKB/TrEMBL
  ENST00000474531 ENTREZGENE
  ENST00000474531.5 UniProtKB/Swiss-Prot
  ENST00000649301.1 UniProtKB/Swiss-Prot
GTEx ENSG00000168309 GTEx
HGNC ID HGNC:30827 ENTREZGENE
Human Proteome Map FAM107A Human Proteome Map
InterPro FAM107 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11170 ENTREZGENE
OMIM 608295 OMIM
PANTHER ACTIN-ASSOCIATED PROTEIN FAM107A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1151 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485464 PharmGKB
UniProt B3KNQ4 ENTREZGENE
  B3KY74 ENTREZGENE, UniProtKB/TrEMBL
  B4DNP5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAY5 ENTREZGENE
  C9JAU5_HUMAN UniProtKB/TrEMBL
  F107A_HUMAN UniProtKB/Swiss-Prot
  J3KR61 ENTREZGENE
  O95990 ENTREZGENE
  Q6IAM1 ENTREZGENE, UniProtKB/TrEMBL
  Q96NH4 ENTREZGENE
UniProt Secondary B3KNQ4 UniProtKB/Swiss-Prot
  B7ZAY5 UniProtKB/Swiss-Prot
  J3KR61 UniProtKB/Swiss-Prot
  Q96NH4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM107A  family with sequence similarity 107 member A    family with sequence similarity 107, member A  Symbol and/or name change 5135510 APPROVED