FAM83F (family with sequence similarity 83 member F) - Rat Genome Database

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Gene: FAM83F (family with sequence similarity 83 member F) Homo sapiens
Analyze
Symbol: FAM83F
Name: family with sequence similarity 83 member F
RGD ID: 1602306
HGNC Page HGNC:25148
Description: Predicted to enable protein kinase binding activity. Predicted to be involved in signal transduction.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: family with sequence similarity 83, member F; hypothetical protein LOC113828
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
GRCh382239,994,954 - 40,043,534 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2239,994,954 - 40,043,534 (+)EnsemblGRCh38hg38GRCh38
GRCh372240,390,958 - 40,439,538 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,720,899 - 38,755,989 (+)NCBINCBI36Build 36hg18NCBI36
Celera2224,192,998 - 24,228,085 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2223,353,893 - 23,389,299 (+)NCBIHuRef
CHM1_12240,350,160 - 40,385,346 (+)NCBICHM1_1
T2T-CHM13v2.02240,465,916 - 40,515,097 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:17342744   PMID:19322201   PMID:19834535   PMID:21873635   PMID:29789297   PMID:30280778   PMID:30556880   PMID:30639242   PMID:30692643   PMID:30881348   PMID:31586073  
PMID:31595558   PMID:33361109   PMID:33361334   PMID:33560141   PMID:33961781   PMID:35748872   PMID:36526897  


Genomics

Comparative Map Data
FAM83F
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382239,994,954 - 40,043,534 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2239,994,954 - 40,043,534 (+)EnsemblGRCh38hg38GRCh38
GRCh372240,390,958 - 40,439,538 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,720,899 - 38,755,989 (+)NCBINCBI36Build 36hg18NCBI36
Celera2224,192,998 - 24,228,085 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2223,353,893 - 23,389,299 (+)NCBIHuRef
CHM1_12240,350,160 - 40,385,346 (+)NCBICHM1_1
T2T-CHM13v2.02240,465,916 - 40,515,097 (+)NCBIT2T-CHM13v2.0
Fam83f
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391580,555,829 - 80,584,626 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1580,556,048 - 80,584,626 (+)EnsemblGRCm39 Ensembl
GRCm381580,671,847 - 80,700,425 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1580,671,847 - 80,700,425 (+)EnsemblGRCm38mm10GRCm38
MGSCv371580,502,277 - 80,530,855 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361580,499,124 - 80,527,679 (+)NCBIMGSCv36mm8
Celera1582,791,708 - 82,820,290 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.89NCBI
Fam83f
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87114,091,356 - 114,120,640 (+)NCBIGRCr8
mRatBN7.27112,211,164 - 112,240,454 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7112,211,164 - 112,240,452 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7113,967,194 - 113,996,023 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07116,190,732 - 116,219,560 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07116,160,102 - 116,188,931 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07121,889,157 - 121,918,772 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7121,889,157 - 121,918,772 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07121,880,994 - 121,910,618 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47118,951,184 - 118,980,287 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7108,535,286 - 108,564,517 (+)NCBICelera
Cytogenetic Map7q34NCBI
Fam83f
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541325,775,107 - 25,807,625 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541325,775,107 - 25,807,592 (+)NCBIChiLan1.0ChiLan1.0
FAM83F
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22349,841,110 - 49,964,770 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12252,532,389 - 52,581,004 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02220,900,012 - 20,948,588 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12238,719,795 - 38,754,415 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2238,719,795 - 38,753,949 (+)Ensemblpanpan1.1panPan2
FAM83F
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11025,106,663 - 25,140,989 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1025,108,003 - 25,140,989 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1025,042,836 - 25,077,209 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01025,858,698 - 25,893,092 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1025,860,038 - 25,893,564 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11025,570,358 - 25,604,718 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01025,892,937 - 25,927,326 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01026,067,408 - 26,101,823 (-)NCBIUU_Cfam_GSD_1.0
Fam83f
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049458,696,599 - 8,729,416 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364921,713,327 - 1,739,823 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364921,697,759 - 1,739,830 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM83F
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl58,319,203 - 8,354,723 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.158,320,972 - 8,354,738 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.255,617,726 - 5,647,746 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM83F
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11922,572,387 - 22,606,348 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1922,572,483 - 22,605,897 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045102,990,865 - 103,027,133 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam83f
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247528,406,436 - 8,438,950 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247528,403,619 - 8,438,975 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM83F
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3 copy number gain See cases [RCV000448955] Chr22:40233644..41655673 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_138435.4(FAM83F):c.650G>A (p.Arg217Gln) single nucleotide variant not specified [RCV004285794] Chr22:40019328 [GRCh38]
Chr22:40415332 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:40417604-40417964)x1 copy number loss not provided [RCV000741978] Chr22:40417604..40417964 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_138435.4(FAM83F):c.118G>C (p.Gly40Arg) single nucleotide variant not specified [RCV004292981] Chr22:39995160 [GRCh38]
Chr22:40391164 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_39621728)_(41077932_?)dup duplication Adenylosuccinate lyase deficiency [RCV001910122] Chr22:39621728..41077932 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NM_138435.4(FAM83F):c.857C>T (p.Thr286Met) single nucleotide variant not specified [RCV004331796] Chr22:40021367 [GRCh38]
Chr22:40417371 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.812A>T (p.Asn271Ile) single nucleotide variant not specified [RCV004156444] Chr22:40021322 [GRCh38]
Chr22:40417326 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1 copy number loss not provided [RCV002473952] Chr22:40131240..41556564 [GRCh37]
Chr22:22q13.1-13.2		 pathogenic
NM_138435.4(FAM83F):c.565C>T (p.Arg189Trp) single nucleotide variant not specified [RCV004191159] Chr22:40019243 [GRCh38]
Chr22:40415247 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.457G>C (p.Val153Leu) single nucleotide variant not specified [RCV004235916] Chr22:39995499 [GRCh38]
Chr22:40391503 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.422C>T (p.Pro141Leu) single nucleotide variant not specified [RCV004136765] Chr22:39995464 [GRCh38]
Chr22:40391468 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 copy number gain not provided [RCV002475709] Chr22:39768795..41946225 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NM_138435.4(FAM83F):c.895G>A (p.Asp299Asn) single nucleotide variant not specified [RCV004163914] Chr22:40021405 [GRCh38]
Chr22:40417409 [GRCh37]
Chr22:22q13.1		 likely benign
NM_138435.4(FAM83F):c.671G>A (p.Arg224His) single nucleotide variant Abnormal sperm morphology [RCV003154282]|not specified [RCV004227613] Chr22:40019900 [GRCh38]
Chr22:40415904 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.751G>A (p.Gly251Ser) single nucleotide variant not specified [RCV004078538] Chr22:40019980 [GRCh38]
Chr22:40415984 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.649C>T (p.Arg217Trp) single nucleotide variant not specified [RCV004209279] Chr22:40019327 [GRCh38]
Chr22:40415331 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.904C>T (p.Arg302Trp) single nucleotide variant not specified [RCV004232706] Chr22:40021414 [GRCh38]
Chr22:40417418 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1285C>T (p.Arg429Trp) single nucleotide variant not specified [RCV004188033] Chr22:40021795 [GRCh38]
Chr22:40417799 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1361A>G (p.Asn454Ser) single nucleotide variant not specified [RCV004188137] Chr22:40021871 [GRCh38]
Chr22:40417875 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.401G>A (p.Arg134Gln) single nucleotide variant not specified [RCV004174444] Chr22:39995443 [GRCh38]
Chr22:40391447 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1271T>C (p.Met424Thr) single nucleotide variant not specified [RCV004208986] Chr22:40021781 [GRCh38]
Chr22:40417785 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.448C>T (p.Leu150Phe) single nucleotide variant not specified [RCV004229474] Chr22:39995490 [GRCh38]
Chr22:40391494 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.490G>T (p.Val164Phe) single nucleotide variant not specified [RCV004241572] Chr22:40019168 [GRCh38]
Chr22:40415172 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.529A>G (p.Ile177Val) single nucleotide variant not specified [RCV004167769] Chr22:40019207 [GRCh38]
Chr22:40415211 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1310G>A (p.Arg437His) single nucleotide variant not specified [RCV004082212] Chr22:40021820 [GRCh38]
Chr22:40417824 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.511C>G (p.Leu171Val) single nucleotide variant not specified [RCV004188693] Chr22:40019189 [GRCh38]
Chr22:40415193 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.665G>A (p.Arg222His) single nucleotide variant not specified [RCV004071055] Chr22:40019894 [GRCh38]
Chr22:40415898 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.85G>A (p.Glu29Lys) single nucleotide variant not specified [RCV004091068] Chr22:39995127 [GRCh38]
Chr22:40391131 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.911T>G (p.Leu304Arg) single nucleotide variant not specified [RCV004169175] Chr22:40021421 [GRCh38]
Chr22:40417425 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1303G>A (p.Ala435Thr) single nucleotide variant not specified [RCV004205559] Chr22:40021813 [GRCh38]
Chr22:40417817 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1283C>T (p.Ala428Val) single nucleotide variant not specified [RCV004192253] Chr22:40021793 [GRCh38]
Chr22:40417797 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.877G>A (p.Ala293Thr) single nucleotide variant not specified [RCV004192609] Chr22:40021387 [GRCh38]
Chr22:40417391 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.848C>G (p.Pro283Arg) single nucleotide variant not specified [RCV004078162] Chr22:40021358 [GRCh38]
Chr22:40417362 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1085C>T (p.Ala362Val) single nucleotide variant not specified [RCV004257455] Chr22:40021595 [GRCh38]
Chr22:40417599 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.71C>T (p.Ala24Val) single nucleotide variant not specified [RCV004287357] Chr22:39995113 [GRCh38]
Chr22:40391117 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.909G>C (p.Gln303His) single nucleotide variant not specified [RCV004328668] Chr22:40021419 [GRCh38]
Chr22:40417423 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.553G>A (p.Ala185Thr) single nucleotide variant not specified [RCV004299890] Chr22:40019231 [GRCh38]
Chr22:40415235 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.54G>A (p.Val18=) single nucleotide variant not provided [RCV003433227] Chr22:39995096 [GRCh38]
Chr22:40391100 [GRCh37]
Chr22:22q13.1		 likely benign
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 copy number gain not specified [RCV003986179] Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31		 pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1 copy number loss not specified [RCV003986188] Chr22:39935185..41752098 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NM_138435.4(FAM83F):c.1109G>A (p.Arg370His) single nucleotide variant not specified [RCV004383519] Chr22:40021619 [GRCh38]
Chr22:40417623 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.223G>A (p.Glu75Lys) single nucleotide variant not specified [RCV004383526] Chr22:39995265 [GRCh38]
Chr22:40391269 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.988G>A (p.Val330Met) single nucleotide variant not specified [RCV004383532] Chr22:40021498 [GRCh38]
Chr22:40417502 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1094G>A (p.Gly365Asp) single nucleotide variant not specified [RCV004383518] Chr22:40021604 [GRCh38]
Chr22:40417608 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.122G>A (p.Gly41Asp) single nucleotide variant not specified [RCV004383522] Chr22:39995164 [GRCh38]
Chr22:40391168 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1339G>T (p.Ala447Ser) single nucleotide variant not specified [RCV004383523] Chr22:40021849 [GRCh38]
Chr22:40417853 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.373G>A (p.Asp125Asn) single nucleotide variant not specified [RCV004383527] Chr22:39995415 [GRCh38]
Chr22:40391419 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1221G>C (p.Met407Ile) single nucleotide variant not specified [RCV004383521] Chr22:40021731 [GRCh38]
Chr22:40417735 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.544G>A (p.Val182Met) single nucleotide variant not specified [RCV004383528] Chr22:40019222 [GRCh38]
Chr22:40415226 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1390A>G (p.Thr464Ala) single nucleotide variant not specified [RCV004383524] Chr22:40021900 [GRCh38]
Chr22:40417904 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.794C>G (p.Ser265Cys) single nucleotide variant not specified [RCV004383530] Chr22:40021304 [GRCh38]
Chr22:40417308 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1052C>T (p.Ala351Val) single nucleotide variant not specified [RCV004383516] Chr22:40021562 [GRCh38]
Chr22:40417566 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1159C>T (p.Pro387Ser) single nucleotide variant not specified [RCV004383520] Chr22:40021669 [GRCh38]
Chr22:40417673 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.932G>A (p.Gly311Asp) single nucleotide variant not specified [RCV004383531] Chr22:40021442 [GRCh38]
Chr22:40417446 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1428C>A (p.Asn476Lys) single nucleotide variant not specified [RCV004383525] Chr22:40021938 [GRCh38]
Chr22:40417942 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1469G>A (p.Ser490Asn) single nucleotide variant not specified [RCV004625639] Chr22:40029531 [GRCh38]
Chr22:40425535 [GRCh37]
Chr22:22q13.1		 uncertain significance
NC_000022.10:g.(?_39306081)_(41904073_?)dup duplication Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004579118] Chr22:39306081..41904073 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NM_138435.4(FAM83F):c.127G>A (p.Glu43Lys) single nucleotide variant not specified [RCV004625640] Chr22:39995169 [GRCh38]
Chr22:40391173 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.988G>C (p.Val330Leu) single nucleotide variant not specified [RCV004625641] Chr22:40021498 [GRCh38]
Chr22:40417502 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_138435.4(FAM83F):c.1358C>A (p.Pro453His) single nucleotide variant not specified [RCV004625642] Chr22:40021868 [GRCh38]
Chr22:40417872 [GRCh37]
Chr22:22q13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7200
Count of miRNA genes:1394
Interacting mature miRNAs:1885
Transcripts:ENST00000333407, ENST00000473717, ENST00000488874
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407271767GWAS920743_Hbody height QTL GWAS920743 (human)3e-08body height (VT:0001253)body height (CMO:0000106)224003434740034348Human
407023536GWAS672512_Hprostate carcinoma QTL GWAS672512 (human)0.000004prostate carcinoma224004096940040970Human
407023537GWAS672513_Hprostate carcinoma QTL GWAS672513 (human)0.0000004prostate carcinoma224004096940040970Human
407293552GWAS942528_HUterine leiomyoma, breast carcinoma QTL GWAS942528 (human)1e-10Uterine leiomyoma, breast carcinoma224002997040029971Human
407195919GWAS844895_Harginine measurement QTL GWAS844895 (human)0.000009arginine measurement224002002140020022Human

Markers in Region
D22S1197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,419,332 - 40,419,499UniSTSGRCh37
Build 362238,749,278 - 38,749,445RGDNCBI36
Celera2224,221,378 - 24,221,545RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,382,596 - 23,382,763UniSTS
D22S630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,425,269 - 40,425,472UniSTSGRCh37
Build 362238,755,215 - 38,755,418RGDNCBI36
Celera2224,227,311 - 24,227,514RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,388,525 - 23,388,728UniSTS
Whitehead-RH Map22148.0UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,424,998 - 40,425,211UniSTSGRCh37
Build 362238,754,944 - 38,755,157RGDNCBI36
Celera2224,227,044 - 24,227,253RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,388,262 - 23,388,467UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,425,040 - 40,425,227UniSTSGRCh37
Build 362238,754,986 - 38,755,173RGDNCBI36
Celera2224,227,086 - 24,227,269RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,388,304 - 23,388,483UniSTS
Whitehead-YAC Contig Map22 UniSTS
AL021673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,394,171 - 40,394,298UniSTSGRCh37
Build 362238,724,117 - 38,724,244RGDNCBI36
Celera2224,196,216 - 24,196,343RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,357,111 - 23,357,238UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2424 2767 2212 4823 1652 2221 6 556 1381 397 2206 6581 5884 30 3642 1 799 1704 1554 174 1

Sequence


Ensembl Acc Id: ENST00000333407   ⟹   ENSP00000330432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,994,954 - 40,043,534 (+)Ensembl
Ensembl Acc Id: ENST00000473717   ⟹   ENSP00000476600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,009,688 - 40,030,031 (+)Ensembl
Ensembl Acc Id: ENST00000488874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,995,362 - 39,999,125 (+)Ensembl
RefSeq Acc Id: NM_138435   ⟹   NP_612444
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,994,954 - 40,043,534 (+)NCBI
GRCh372240,390,953 - 40,426,043 (+)RGD
Build 362238,720,899 - 38,755,989 (+)NCBI Archive
Celera2224,192,998 - 24,228,085 (+)RGD
HuRef2223,353,893 - 23,389,299 (+)RGD
CHM1_12240,350,160 - 40,385,346 (+)NCBI
T2T-CHM13v2.02240,465,916 - 40,515,097 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_612444 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH11204 (Get FASTA)   NCBI Sequence Viewer  
  AAH31099 (Get FASTA)   NCBI Sequence Viewer  
  EAW60365 (Get FASTA)   NCBI Sequence Viewer  
  EAW60366 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000330432
  ENSP00000330432.5
  ENSP00000476600.1
GenBank Protein Q8NEG4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_612444   ⟸   NM_138435
- UniProtKB: Q96FD6 (UniProtKB/Swiss-Prot),   Q8NEG4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000330432   ⟸   ENST00000333407
Ensembl Acc Id: ENSP00000476600   ⟸   ENST00000473717

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NEG4-F1-model_v2 AlphaFold Q8NEG4 1-500 view protein structure

Promoters
RGD ID:6799980
Promoter ID:HG_KWN:42909
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_138435,   OTTHUMT00000321289
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,720,241 - 38,720,741 (+)MPROMDB
RGD ID:6799981
Promoter ID:HG_KWN:42910
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat
Transcripts:OTTHUMT00000319623
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,734,816 - 38,735,917 (+)MPROMDB
RGD ID:13604186
Promoter ID:EPDNEW_H28277
Type:initiation region
Name:FAM83F_1
Description:family with sequence similarity 83 member F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28278  EPDNEW_H28279  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,994,954 - 39,995,014EPDNEW
RGD ID:13604188
Promoter ID:EPDNEW_H28278
Type:initiation region
Name:FAM83F_3
Description:family with sequence similarity 83 member F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28277  EPDNEW_H28279  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,995,457 - 39,995,517EPDNEW
RGD ID:13604190
Promoter ID:EPDNEW_H28279
Type:initiation region
Name:FAM83F_2
Description:family with sequence similarity 83 member F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28277  EPDNEW_H28278  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,009,699 - 40,009,759EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25148 AgrOrtholog
COSMIC FAM83F COSMIC
Ensembl Genes ENSG00000133477 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333407 ENTREZGENE
  ENST00000333407.11 UniProtKB/Swiss-Prot
  ENST00000473717.1 UniProtKB/Swiss-Prot
Gene3D-CATH Endonuclease Chain A UniProtKB/Swiss-Prot
GTEx ENSG00000133477 GTEx
HGNC ID HGNC:25148 ENTREZGENE
Human Proteome Map FAM83F Human Proteome Map
InterPro FAM83 UniProtKB/Swiss-Prot
  FAM83_N UniProtKB/Swiss-Prot
KEGG Report hsa:113828 UniProtKB/Swiss-Prot
NCBI Gene 113828 ENTREZGENE
PANTHER PROTEIN FAM83B-RELATED UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/Swiss-Prot
Pfam FAM83 UniProtKB/Swiss-Prot
PharmGKB PA142671853 PharmGKB
Superfamily-SCOP Phospholipase D/nuclease UniProtKB/Swiss-Prot
UniProt FA83F_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96FD6 ENTREZGENE
UniProt Secondary Q96FD6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM83F  family with sequence similarity 83 member F    family with sequence similarity 83, member F  Symbol and/or name change 5135510 APPROVED