FAM120A (family with sequence similarity 120A) - Rat Genome Database
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Gene: FAM120A (family with sequence similarity 120A) Homo sapiens
Analyze
Symbol: FAM120A
Name: family with sequence similarity 120A
RGD ID: 1315374
HGNC Page HGNC
Description: Exhibits RNA binding activity. Localizes to cytosol; INTERACTS WITH 2-methylcholine; 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C9orf10; constitutive coactivator of PPAR-gamma-like protein 1; DNA polymerase-transactivated protein 1; DNA polymerase-transactivated protein 5; DNAPTP1; DNAPTP5; HBVPTPAP; MGC111527; MGC133257; OSSA; oxidative stess-associated Src activator; oxidative stress-associated Src activator
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl993,451,685 - 93,566,112 (+)EnsemblGRCh38hg38GRCh38
GRCh38993,451,685 - 93,566,112 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37996,213,967 - 96,328,394 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36995,253,994 - 95,368,218 (+)NCBINCBI36hg18NCBI36
Build 34993,293,727 - 93,407,946NCBI
Celera966,655,621 - 66,769,844 (+)NCBI
Cytogenetic Map9q22.31NCBI
HuRef965,891,442 - 66,004,918 (+)NCBIHuRef
CHM1_1996,361,052 - 96,475,409 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
hiatus hernia  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
membrane  (HDA)
nucleus  (IBA)
plasma membrane  (IEA)

Molecular Function
RNA binding  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hiatus hernia  (IAGP)
References

Additional References at PubMed
PMID:8619474   PMID:8724849   PMID:8889548   PMID:9110174   PMID:12477932   PMID:14585507   PMID:14702039   PMID:15164053   PMID:15489334   PMID:15592455   PMID:15782174   PMID:16964243  
PMID:17081983   PMID:17110338   PMID:18029348   PMID:19015244   PMID:19946888   PMID:20020773   PMID:20360068   PMID:20379614   PMID:21145461   PMID:21280222   PMID:21873635   PMID:22586326  
PMID:22658674   PMID:22681889   PMID:22952844   PMID:23125841   PMID:23254330   PMID:23414517   PMID:23443559   PMID:24163370   PMID:24457600   PMID:24778252   PMID:25315684   PMID:25324306  
PMID:25515538   PMID:25609649   PMID:25665578   PMID:25796446   PMID:25896327   PMID:25900982   PMID:25921289   PMID:25953783   PMID:26186194   PMID:26472337   PMID:26496610   PMID:26638075  
PMID:26777405   PMID:26831064   PMID:26979993   PMID:27265469   PMID:27634302   PMID:27684187   PMID:27756805   PMID:28077445   PMID:28514442   PMID:28533407   PMID:28611215   PMID:28675297  
PMID:28718761   PMID:28977470   PMID:28977666   PMID:29117863   PMID:29229926   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29540532   PMID:29568061   PMID:29802200   PMID:29845934  
PMID:29884807   PMID:29961565   PMID:30021884   PMID:30154076   PMID:30196744   PMID:30209976   PMID:30320910   PMID:30442662   PMID:30462309   PMID:30463901   PMID:30471916   PMID:30833792  
PMID:30948266   PMID:30997501   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31405213   PMID:31417184   PMID:31586073   PMID:31753913   PMID:31980649   PMID:32129710   PMID:32457219  
PMID:32877691  


Genomics

Comparative Map Data
FAM120A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl993,451,685 - 93,566,112 (+)EnsemblGRCh38hg38GRCh38
GRCh38993,451,685 - 93,566,112 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37996,213,967 - 96,328,394 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36995,253,994 - 95,368,218 (+)NCBINCBI36hg18NCBI36
Build 34993,293,727 - 93,407,946NCBI
Celera966,655,621 - 66,769,844 (+)NCBI
Cytogenetic Map9q22.31NCBI
HuRef965,891,442 - 66,004,918 (+)NCBIHuRef
CHM1_1996,361,052 - 96,475,409 (+)NCBICHM1_1
Fam120a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391349,032,692 - 49,121,754 (-)NCBIGRCm39mm39
GRCm39 Ensembl1349,032,695 - 49,121,493 (-)Ensembl
GRCm381348,879,216 - 48,968,060 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1348,879,219 - 48,968,017 (-)EnsemblGRCm38mm10GRCm38
MGSCv371348,974,585 - 49,063,197 (-)NCBIGRCm37mm9NCBIm37
MGSCv361348,892,733 - 48,979,765 (-)NCBImm8
Celera1349,970,064 - 50,058,536 (-)NCBICelera
Cytogenetic Map13A5NCBI
Fam120a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21715,684,233 - 15,774,964 (+)NCBI
Rnor_6.0 Ensembl1716,106,137 - 16,194,478 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01716,106,101 - 16,196,054 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01718,168,308 - 18,257,857 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41721,673,373 - 21,764,457 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11721,630,559 - 21,764,451 (+)NCBI
Celera1715,413,330 - 15,503,374 (+)NCBICelera
Cytogenetic Map17p14NCBI
Fam120a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555154,531,586 - 4,629,569 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555154,531,586 - 4,628,646 (-)NCBIChiLan1.0ChiLan1.0
FAM120A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0964,575,501 - 64,689,649 (+)NCBIMhudiblu_PPA_v0panPan3
FAM120A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1198,264,680 - 98,336,761 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl198,265,855 - 98,353,296 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha198,660,089 - 98,747,406 (-)NCBI
ROS_Cfam_1.0198,882,404 - 98,969,686 (-)NCBI
UMICH_Zoey_3.1198,496,292 - 98,583,580 (-)NCBI
UNSW_CanFamBas_1.0198,232,192 - 98,319,495 (-)NCBI
UU_Cfam_GSD_1.0198,987,128 - 99,074,444 (-)NCBI
Fam120a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_0244049448,532,251 - 8,633,666 (+)NCBI
SpeTri2.0NW_0049364872,748,726 - 2,850,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM120A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl342,861,410 - 42,974,463 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1342,861,594 - 42,974,874 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2344,241,918 - 44,330,942 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219772
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112103,829,452 - 103,945,026 (+)NCBI
ChlSab1.1 Ensembl12103,829,680 - 103,945,419 (+)Ensembl
Fam120a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248682,996,907 - 3,103,289 (-)NCBI

Position Markers
D9S197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,264,711 - 96,264,913UniSTSGRCh37
Build 36995,304,532 - 95,304,734RGDNCBI36
Celera966,706,166 - 66,706,366RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22.32UniSTS
HuRef965,941,237 - 65,941,437UniSTS
Marshfield Genetic Map9100.89RGD
Marshfield Genetic Map9100.89UniSTS
Genethon Genetic Map9101.2UniSTS
deCODE Assembly Map996.58UniSTS
Whitehead-RH Map9346.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
SHGC-54640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,259,733 - 96,259,868UniSTSGRCh37
Build 36995,299,554 - 95,299,689RGDNCBI36
Celera966,701,188 - 66,701,323RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,936,259 - 65,936,394UniSTS
TNG Radiation Hybrid Map934828.0UniSTS
RH94022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,294,636 - 96,294,755UniSTSGRCh37
Build 36995,334,457 - 95,334,576RGDNCBI36
Celera966,736,087 - 66,736,206RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,971,160 - 65,971,279UniSTS
GeneMap99-GB4 RH Map9307.02UniSTS
G60433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,264,732 - 96,265,021UniSTSGRCh37
Build 36995,304,553 - 95,304,842RGDNCBI36
Celera966,706,187 - 66,706,474RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,941,258 - 65,941,545UniSTS
TNG Radiation Hybrid Map934842.0UniSTS
G54484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,220,558 - 96,220,719UniSTSGRCh37
Build 36995,260,379 - 95,260,540RGDNCBI36
Celera966,662,005 - 66,662,166RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,897,824 - 65,897,985UniSTS
G54486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,321,094 - 96,321,351UniSTSGRCh37
Build 36995,360,915 - 95,361,172RGDNCBI36
Celera966,762,541 - 66,762,798RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,997,615 - 65,997,872UniSTS
G54485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,285,838 - 96,286,113UniSTSGRCh37
Build 36995,325,659 - 95,325,934RGDNCBI36
Celera966,727,289 - 66,727,564RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,962,359 - 65,962,634UniSTS
D9S1006E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,326,651 - 96,326,859UniSTSGRCh37
Build 36995,366,472 - 95,366,680RGDNCBI36
Celera966,768,098 - 66,768,306RGD
Cytogenetic Map9q22.31UniSTS
HuRef966,003,172 - 66,003,380UniSTS
D9S1045E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,259,587 - 96,259,794UniSTSGRCh37
Build 36995,299,408 - 95,299,615RGDNCBI36
Celera966,701,042 - 66,701,249RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,936,113 - 65,936,320UniSTS
SHGC-146700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,281,864 - 96,282,092UniSTSGRCh37
Build 36995,321,685 - 95,321,913RGDNCBI36
Celera966,723,315 - 66,723,543RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,958,385 - 65,958,613UniSTS
TNG Radiation Hybrid Map934856.0UniSTS
SHGC-146868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,274,468 - 96,274,598UniSTSGRCh37
Build 36995,314,289 - 95,314,419RGDNCBI36
Celera966,715,919 - 66,716,049RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,950,990 - 65,951,120UniSTS
TNG Radiation Hybrid Map934780.0UniSTS
SHGC-149296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,281,539 - 96,281,865UniSTSGRCh37
Build 36995,321,360 - 95,321,686RGDNCBI36
Celera966,722,990 - 66,723,316RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,958,060 - 65,958,386UniSTS
TNG Radiation Hybrid Map934870.0UniSTS
D3S3819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,326,725 - 96,326,900UniSTSGRCh37
Build 36995,366,546 - 95,366,721RGDNCBI36
Celera966,768,172 - 66,768,347RGD
Cytogenetic Map9q22.31UniSTS
HuRef966,003,246 - 66,003,421UniSTS
Whitehead-YAC Contig Map3 UniSTS
WI-15517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,293,528 - 96,293,655UniSTSGRCh37
Build 36995,333,349 - 95,333,476RGDNCBI36
Celera966,734,979 - 66,735,106RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,970,052 - 65,970,179UniSTS
GeneMap99-GB4 RH Map9308.44UniSTS
Whitehead-RH Map9348.6UniSTS
WI-22276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37996,259,578 - 96,259,851UniSTSGRCh37
Build 36995,299,399 - 95,299,672RGDNCBI36
Celera966,701,033 - 66,701,306RGD
Cytogenetic Map9q22.31UniSTS
HuRef965,936,104 - 65,936,377UniSTS
GeneMap99-GB4 RH Map9305.52UniSTS
Whitehead-RH Map9347.4UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
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Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
RH25397  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q22.31UniSTS
GeneMap99-GB4 RH Map9304.81UniSTS
NCBI RH Map9793.7UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pMirtarbaseexternal_infoProteomicsFunctional MTI (Weak)18262046

Predicted Target Of
Summary Value
Count of predictions:2233
Count of miRNA genes:791
Interacting mature miRNAs:920
Transcripts:ENST00000277165, ENST00000333936, ENST00000340893, ENST00000375389, ENST00000427765, ENST00000446420, ENST00000475933
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.


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 2432 2723 1717 618 1807 460 4355 2087 3349 412 1447 1607 171 1204 2788 4
Low 5 267 9 6 144 5 1 110 376 7 11 5 4 1 1 2
Below cutoff 1 9 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF055017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW949787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY266457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY450393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ020345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ421167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX326996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA419293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB989774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD110412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF135376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D80005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY559104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R40697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000277165   ⟹   ENSP00000277165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl993,451,685 - 93,566,112 (+)Ensembl
RefSeq Acc Id: ENST00000375389   ⟹   ENSP00000364538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl993,451,891 - 93,531,406 (+)Ensembl
RefSeq Acc Id: ENST00000427765   ⟹   ENSP00000412440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl993,532,155 - 93,564,765 (+)Ensembl
RefSeq Acc Id: ENST00000446420   ⟹   ENSP00000396534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl993,452,384 - 93,532,589 (+)Ensembl
RefSeq Acc Id: ENST00000475933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl993,529,470 - 93,532,584 (+)Ensembl
RefSeq Acc Id: ENST00000652239   ⟹   ENSP00000498798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl993,556,452 - 93,564,371 (+)Ensembl
RefSeq Acc Id: NM_001286722   ⟹   NP_001273651
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,685 - 93,566,112 (+)NCBI
HuRef965,891,376 - 66,004,918 (+)NCBI
CHM1_1996,361,052 - 96,475,409 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286723   ⟹   NP_001273652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,685 - 93,532,589 (+)NCBI
HuRef965,891,376 - 66,004,918 (+)NCBI
CHM1_1996,361,052 - 96,441,883 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286724   ⟹   NP_001273653
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,685 - 93,531,408 (+)NCBI
HuRef965,891,376 - 66,004,918 (+)NCBI
CHM1_1996,361,052 - 96,440,700 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014612   ⟹   NP_055427
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,685 - 93,566,112 (+)NCBI
GRCh37996,214,173 - 96,328,397 (+)NCBI
Build 36995,253,994 - 95,368,218 (+)NCBI Archive
Celera966,655,621 - 66,769,844 (+)RGD
HuRef965,891,376 - 66,004,918 (+)NCBI
CHM1_1996,361,052 - 96,475,409 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251842   ⟹   XP_005251899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,713 - 93,566,112 (+)NCBI
GRCh37996,214,173 - 96,328,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518412   ⟹   XP_011516714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,879 - 93,566,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518413   ⟹   XP_011516715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,879 - 93,566,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518414   ⟹   XP_011516716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,879 - 93,566,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518416   ⟹   XP_011516718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,878 - 93,556,357 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055427   ⟸   NM_014612
- Peptide Label: isoform a
- UniProtKB: Q9NZB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251899   ⟸   XM_005251842
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001273651   ⟸   NM_001286722
- Peptide Label: isoform b
- UniProtKB: Q9NZB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273652   ⟸   NM_001286723
- Peptide Label: isoform c
- UniProtKB: Q9NZB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273653   ⟸   NM_001286724
- Peptide Label: isoform d
- UniProtKB: Q9NZB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516718   ⟸   XM_011518416
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011516714   ⟸   XM_011518412
- Peptide Label: isoform X1
- UniProtKB: Q9NZB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516715   ⟸   XM_011518413
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516716   ⟸   XM_011518414
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000412440   ⟸   ENST00000427765
RefSeq Acc Id: ENSP00000364538   ⟸   ENST00000375389
RefSeq Acc Id: ENSP00000498798   ⟸   ENST00000652239
RefSeq Acc Id: ENSP00000396534   ⟸   ENST00000446420
RefSeq Acc Id: ENSP00000277165   ⟸   ENST00000277165

Promoters
RGD ID:7215513
Promoter ID:EPDNEW_H13503
Type:initiation region
Name:FAM120A_1
Description:family with sequence similarity 120A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13504  EPDNEW_H13506  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,694 - 93,451,754EPDNEW
RGD ID:7215515
Promoter ID:EPDNEW_H13504
Type:initiation region
Name:FAM120A_3
Description:family with sequence similarity 120A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13503  EPDNEW_H13506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,451,941 - 93,452,001EPDNEW
RGD ID:7215519
Promoter ID:EPDNEW_H13506
Type:initiation region
Name:FAM120A_2
Description:family with sequence similarity 120A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13503  EPDNEW_H13504  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38993,532,156 - 93,532,216EPDNEW
RGD ID:6807693
Promoter ID:HG_KWN:64097
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:ENST00000333936,   ENST00000340893,   ENST00000375389,   ENST00000400953,   NM_014612,   OTTHUMT00000053150,   OTTHUMT00000053151,   OTTHUMT00000053152,   OTTHUMT00000053153,   OTTHUMT00000053156,   UC004ATM.1,   UC004ATO.2,   UC004ATP.2,   UC004ATR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36995,252,686 - 95,254,417 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 copy number loss See cases [RCV000052916] Chr9:91596533..97018746 [GRCh38]
Chr9:94358815..99781028 [GRCh37]
Chr9:93398636..98820849 [NCBI36]
Chr9:9q22.31-22.33
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3 copy number gain See cases [RCV000053773] Chr9:92561720..98122580 [GRCh38]
Chr9:95324002..100884862 [GRCh37]
Chr9:94363823..99924683 [NCBI36]
Chr9:9q22.31-22.33
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
NM_014612.4(FAM120A):c.1174C>T (p.Pro392Ser) single nucleotide variant Malignant melanoma [RCV000068752] Chr9:93516025 [GRCh38]
Chr9:96278307 [GRCh37]
Chr9:95318128 [NCBI36]
Chr9:9q22.31
not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1 copy number loss not provided [RCV000683156] Chr9:94907633..96493970 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
Single allele duplication Hiatal hernia [RCV001095544] Chr9:96226955..97320408 [GRCh37]
Chr9:9q22.31-22.32
likely pathogenic
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_198841.4(FAM120AOS):c.270del (p.Ile90fs) deletion not provided [RCV000909188] Chr9:93452440 [GRCh38]
Chr9:96214722 [GRCh37]
Chr9:9q22.31
likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13247 AgrOrtholog
COSMIC FAM120A COSMIC
Ensembl Genes ENSG00000048828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000277165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364538 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396534 UniProtKB/TrEMBL
  ENSP00000412440 UniProtKB/TrEMBL
  ENSP00000498798 UniProtKB/TrEMBL
Ensembl Transcript ENST00000277165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375389 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427765 UniProtKB/TrEMBL
  ENST00000446420 UniProtKB/TrEMBL
  ENST00000652239 UniProtKB/TrEMBL
GTEx ENSG00000048828 GTEx
HGNC ID HGNC:13247 ENTREZGENE
Human Proteome Map FAM120A Human Proteome Map
InterPro Coact_PPARg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23196 UniProtKB/Swiss-Prot
NCBI Gene 23196 ENTREZGENE
OMIM 612265 OMIM
PANTHER PTHR15976 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134954136 PharmGKB
Superfamily-SCOP SSF88723 UniProtKB/Swiss-Prot
UniProt A0A0C4DG79_HUMAN UniProtKB/TrEMBL
  A0A0C4DH52_HUMAN UniProtKB/TrEMBL
  A0A494C0Y9_HUMAN UniProtKB/TrEMBL
  F120A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NGU0 UniProtKB/Swiss-Prot
  C4AMC6 UniProtKB/Swiss-Prot
  O60649 UniProtKB/Swiss-Prot
  Q14688 UniProtKB/Swiss-Prot
  Q4VXF4 UniProtKB/Swiss-Prot
  Q4VXF5 UniProtKB/Swiss-Prot
  Q4VXG2 UniProtKB/Swiss-Prot
  Q86V69 UniProtKB/Swiss-Prot
  Q96I21 UniProtKB/Swiss-Prot
  Q9NZB1 UniProtKB/Swiss-Prot