FAM117B (family with sequence similarity 117 member B) - Rat Genome Database

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Gene: FAM117B (family with sequence similarity 117 member B) Homo sapiens
Analyze
Symbol: FAM117B
Name: family with sequence similarity 117 member B
RGD ID: 1317004
HGNC Page HGNC:14440
Description: ASSOCIATED WITH autoimmune lymphoproliferative syndrome type 2B; Autoimmune Lymphoproliferative Syndrome, Type V; common variable immunodeficiency 1; INTERACTS WITH all-trans-retinoic acid; aristolochic acid A; arsane
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ALS2CR13; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein; DKFZp686H01244; family with sequence similarity 117, member B; FLJ38771; hypothetical protein LOC150864
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
GRCh382202,634,969 - 202,769,757 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,634,969 - 202,769,757 (+)EnsemblGRCh38hg38GRCh38
GRCh372203,499,692 - 203,634,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362203,208,456 - 203,342,725 (+)NCBINCBI36Build 36hg18NCBI36
Celera2197,252,014 - 197,387,230 (+)NCBICelera
Cytogenetic Map2q33.2NCBI
HuRef2195,346,934 - 195,481,383 (+)NCBIHuRef
CHM1_12203,506,619 - 203,641,107 (+)NCBICHM1_1
T2T-CHM13v2.02203,116,388 - 203,251,211 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hexadecanoic acid  (EXP)
hydrogen cyanide  (ISO)
hydroquinone  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
isoprenaline  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nefazodone  (ISO)
nickel sulfate  (EXP)
ozone  (ISO)
paracetamol  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium cyanide  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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:11586298   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15778465   PMID:18029348   PMID:19322201   PMID:21873635   PMID:22658674   PMID:23382044   PMID:23443559   PMID:23602568  
PMID:24097068   PMID:25416956   PMID:25814554   PMID:26186194   PMID:26496610   PMID:27173435   PMID:28514442   PMID:28611215   PMID:29507755   PMID:30773093   PMID:31024071   PMID:31515488  
PMID:31980649   PMID:32296183   PMID:32393512   PMID:32707033   PMID:32814053   PMID:33961781   PMID:35271311   PMID:36719368   PMID:36931259   PMID:37499664  


Genomics

Comparative Map Data
FAM117B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,634,969 - 202,769,757 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,634,969 - 202,769,757 (+)EnsemblGRCh38hg38GRCh38
GRCh372203,499,692 - 203,634,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362203,208,456 - 203,342,725 (+)NCBINCBI36Build 36hg18NCBI36
Celera2197,252,014 - 197,387,230 (+)NCBICelera
Cytogenetic Map2q33.2NCBI
HuRef2195,346,934 - 195,481,383 (+)NCBIHuRef
CHM1_12203,506,619 - 203,641,107 (+)NCBICHM1_1
T2T-CHM13v2.02203,116,388 - 203,251,211 (+)NCBIT2T-CHM13v2.0
Fam117b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,952,165 - 60,024,507 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl159,952,165 - 60,024,505 (+)EnsemblGRCm39 Ensembl
GRCm38159,913,006 - 59,985,348 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,913,006 - 59,985,346 (+)EnsemblGRCm38mm10GRCm38
MGSCv37159,969,850 - 60,042,190 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36159,857,552 - 59,929,893 (+)NCBIMGSCv36mm8
Celera160,428,884 - 60,500,816 (+)NCBICelera
Cytogenetic Map1C2NCBI
cM Map130.44NCBI
Fam117b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8968,834,334 - 68,902,543 (+)NCBIGRCr8
mRatBN7.2961,340,284 - 61,418,531 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl961,340,249 - 61,408,483 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx969,840,399 - 69,908,549 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0974,955,951 - 75,024,103 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0973,274,661 - 73,342,815 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0966,716,969 - 66,784,487 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl966,716,969 - 66,784,487 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0966,520,071 - 66,596,356 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4958,476,287 - 58,544,228 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1958,622,696 - 58,688,285 (+)NCBI
Celera958,775,417 - 58,842,774 (+)NCBICelera
Cytogenetic Map9q31NCBI
Fam117b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545712,107,141 - 12,180,614 (-)NCBIChiLan1.0ChiLan1.0
FAM117B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213105,265,851 - 105,400,190 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B105,280,848 - 105,415,187 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B89,896,400 - 90,030,724 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B208,043,335 - 208,177,158 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B208,042,146 - 208,173,180 (+)Ensemblpanpan1.1panPan2
FAM117B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13711,583,542 - 11,668,488 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3711,583,684 - 11,661,903 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3712,467,063 - 12,552,009 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03711,520,177 - 11,605,348 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3711,520,315 - 11,599,177 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13711,476,433 - 11,561,749 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03711,448,107 - 11,533,023 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03711,441,918 - 11,526,872 (+)NCBIUU_Cfam_GSD_1.0
Fam117b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303159,783,034 - 159,876,695 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367261,753,652 - 1,843,405 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367261,753,318 - 1,846,977 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM117B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15106,183,205 - 106,284,313 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115106,183,217 - 106,284,318 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215117,639,859 - 117,740,819 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAM117B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11088,370,979 - 88,513,138 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040110,878,963 - 111,018,660 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam117b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476513,701,345 - 13,782,952 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476513,661,928 - 13,782,962 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM117B
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1 copy number loss See cases [RCV000136892] Chr2:202631428..204929860 [GRCh38]
Chr2:203496151..205794583 [GRCh37]
Chr2:203204396..205502828 [NCBI36]
Chr2:2q33.2-33.3		 pathogenic
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.2(chr2:203583507-203628663)x3 copy number gain See cases [RCV000448235] Chr2:203583507..203628663 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q33.1-33.2(chr2:203065308-204366776)x3 copy number gain not provided [RCV000740848] Chr2:203065308..204366776 [GRCh37]
Chr2:2q33.1-33.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004034] Chr2:202772963..205218660 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004041] Chr2:203228906..203905293 [GRCh37]
Chr2:2q33.1-33.2		 likely pathogenic
GRCh37/hg19 2q33.1-33.2(chr2:203295762-203610801)x3 copy number gain not provided [RCV001005369] Chr2:203295762..203610801 [GRCh37]
Chr2:2q33.1-33.2		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
NC_000002.11:g.(?_201943606)_(204824322_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2		 pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_173511.4(FAM117B):c.964C>T (p.Pro322Ser) single nucleotide variant not specified [RCV004228755] Chr2:202755541 [GRCh38]
Chr2:203620264 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q33.2(chr2:203632510-203693302)x1 copy number loss not provided [RCV002474785] Chr2:203632510..203693302 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1340A>G (p.Asn447Ser) single nucleotide variant not specified [RCV004109779] Chr2:202759242 [GRCh38]
Chr2:203623965 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.635C>G (p.Ser212Cys) single nucleotide variant not specified [RCV004083332] Chr2:202695914 [GRCh38]
Chr2:203560637 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.562C>T (p.Pro188Ser) single nucleotide variant not specified [RCV004174443] Chr2:202635749 [GRCh38]
Chr2:203500472 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1630A>T (p.Thr544Ser) single nucleotide variant not specified [RCV004166596] Chr2:202765624 [GRCh38]
Chr2:203630347 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.677C>T (p.Ala226Val) single nucleotide variant not specified [RCV004186727] Chr2:202695956 [GRCh38]
Chr2:203560679 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.136C>G (p.Gln46Glu) single nucleotide variant not specified [RCV004157086] Chr2:202635323 [GRCh38]
Chr2:203500046 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.832G>A (p.Asp278Asn) single nucleotide variant not specified [RCV004082103] Chr2:202724995 [GRCh38]
Chr2:203589718 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.250G>A (p.Gly84Ser) single nucleotide variant not specified [RCV004201394] Chr2:202635437 [GRCh38]
Chr2:203500160 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.809G>A (p.Arg270His) single nucleotide variant not specified [RCV004121537] Chr2:202724972 [GRCh38]
Chr2:203589695 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.808C>T (p.Arg270Cys) single nucleotide variant not specified [RCV004071025] Chr2:202724971 [GRCh38]
Chr2:203589694 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.298A>G (p.Asn100Asp) single nucleotide variant not specified [RCV004093409] Chr2:202635485 [GRCh38]
Chr2:203500208 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.178G>A (p.Gly60Ser) single nucleotide variant not specified [RCV004145838] Chr2:202635365 [GRCh38]
Chr2:203500088 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1654G>A (p.Val552Met) single nucleotide variant not specified [RCV004073667] Chr2:202765648 [GRCh38]
Chr2:203630371 [GRCh37]
Chr2:2q33.2		 likely benign
NM_173511.4(FAM117B):c.539C>T (p.Ser180Phe) single nucleotide variant not specified [RCV004273493] Chr2:202635726 [GRCh38]
Chr2:203500449 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2		 uncertain significance
NM_173511.4(FAM117B):c.542C>T (p.Pro181Leu) single nucleotide variant not specified [RCV004265426] Chr2:202635729 [GRCh38]
Chr2:203500452 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.19C>T (p.Arg7Cys) single nucleotide variant not specified [RCV004282511] Chr2:202635206 [GRCh38]
Chr2:203499929 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.997C>G (p.Pro333Ala) single nucleotide variant not specified [RCV004267498] Chr2:202755574 [GRCh38]
Chr2:203620297 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1697G>T (p.Arg566Leu) single nucleotide variant not specified [RCV004298516] Chr2:202765691 [GRCh38]
Chr2:203630414 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1246A>G (p.Thr416Ala) single nucleotide variant not specified [RCV004299482] Chr2:202757354 [GRCh38]
Chr2:203622077 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.650G>A (p.Arg217His) single nucleotide variant not specified [RCV004273962] Chr2:202695929 [GRCh38]
Chr2:203560652 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.34A>G (p.Thr12Ala) single nucleotide variant not specified [RCV004272547] Chr2:202635221 [GRCh38]
Chr2:203499944 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_173511.4(FAM117B):c.55G>A (p.Gly19Ser) single nucleotide variant not specified [RCV004348387] Chr2:202635242 [GRCh38]
Chr2:203499965 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.373C>T (p.Pro125Ser) single nucleotide variant not specified [RCV004351177] Chr2:202635560 [GRCh38]
Chr2:203500283 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.257G>A (p.Arg86His) single nucleotide variant not specified [RCV004295032] Chr2:202635444 [GRCh38]
Chr2:203500167 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1268A>G (p.Asn423Ser) single nucleotide variant not specified [RCV004348897] Chr2:202757376 [GRCh38]
Chr2:203622099 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.458C>A (p.Pro153His) single nucleotide variant not specified [RCV004352657] Chr2:202635645 [GRCh38]
Chr2:203500368 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1295C>T (p.Ser432Leu) single nucleotide variant not specified [RCV004345458] Chr2:202757403 [GRCh38]
Chr2:203622126 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1716G>T (p.Met572Ile) single nucleotide variant not specified [RCV004378567] Chr2:202765710 [GRCh38]
Chr2:203630433 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.552C>G (p.Ser184Arg) single nucleotide variant not specified [RCV004378570] Chr2:202635739 [GRCh38]
Chr2:203500462 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.1100T>G (p.Leu367Arg) single nucleotide variant not specified [RCV004378566] Chr2:202755677 [GRCh38]
Chr2:203620400 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.338C>A (p.Thr113Lys) single nucleotide variant not specified [RCV004378568] Chr2:202635525 [GRCh38]
Chr2:203500248 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.359C>T (p.Thr120Met) single nucleotide variant not specified [RCV004378569] Chr2:202635546 [GRCh38]
Chr2:203500269 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_173511.4(FAM117B):c.757G>A (p.Glu253Lys) single nucleotide variant not specified [RCV004378572] Chr2:202724920 [GRCh38]
Chr2:203589643 [GRCh37]
Chr2:2q33.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2997
Count of miRNA genes:878
Interacting mature miRNAs:1018
Transcripts:ENST00000303116, ENST00000392238, ENST00000481658
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH102151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,634,105 - 203,634,232UniSTSGRCh37
Build 362203,342,350 - 203,342,477RGDNCBI36
Celera2197,386,855 - 197,386,982RGD
Cytogenetic Map2q33.2UniSTS
HuRef2195,481,008 - 195,481,135UniSTS
GeneMap99-GB4 RH Map2627.12UniSTS
G54491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,606,983 - 203,607,106UniSTSGRCh37
Build 362203,315,228 - 203,315,351RGDNCBI36
Celera2197,359,733 - 197,359,856RGD
Cytogenetic Map2q33.2UniSTS
HuRef2195,453,892 - 195,454,015UniSTS
G54492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,623,253 - 203,623,456UniSTSGRCh37
Build 362203,331,498 - 203,331,701RGDNCBI36
Celera2197,376,003 - 197,376,206RGD
Cytogenetic Map2q33.2UniSTS
HuRef2195,470,161 - 195,470,364UniSTS
G64430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,609,178 - 203,609,324UniSTSGRCh37
Build 362203,317,423 - 203,317,569RGDNCBI36
Celera2197,361,928 - 197,362,074RGD
Cytogenetic Map2q33.2UniSTS
HuRef2195,456,087 - 195,456,233UniSTS
RH16624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,536,297 - 203,536,477UniSTSGRCh37
Build 362203,244,542 - 203,244,722RGDNCBI36
Celera2197,289,043 - 197,289,223RGD
Cytogenetic Map2q33.2UniSTS
HuRef2195,383,010 - 195,383,190UniSTS
GeneMap99-GB4 RH Map2627.12UniSTS
NCBI RH Map21529.6UniSTS
SHGC-33812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,536,352 - 203,536,477UniSTSGRCh37
Build 362203,244,597 - 203,244,722RGDNCBI36
Celera2197,289,098 - 197,289,223RGD
Cytogenetic Map2q33.2UniSTS
HuRef2195,383,065 - 195,383,190UniSTS
TNG Radiation Hybrid Map2110395.0UniSTS
GeneMap99-GB4 RH Map2631.2UniSTS
Whitehead-RH Map2954.4UniSTS
NCBI RH Map21529.6UniSTS
GeneMap99-G3 RH Map28850.0UniSTS
ALS2CR13__4285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,630,406 - 203,631,257UniSTSGRCh37
Build 362203,338,651 - 203,339,502RGDNCBI36
Celera2197,383,156 - 197,384,007RGD
HuRef2195,477,313 - 195,478,160UniSTS
AF044685  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q22.31UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 173 117 267 49 403 35 781 32 423 118 456 217 18 52 336 3
Low 2257 2745 1443 560 1506 416 3506 2013 3282 299 992 1391 153 1151 2384 1
Below cutoff 2 122 13 13 39 13 68 148 3 1 1 68

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000392238   ⟹   ENSP00000376071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,634,969 - 202,769,757 (+)Ensembl
RefSeq Acc Id: ENST00000481658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,635,489 - 202,725,232 (+)Ensembl
RefSeq Acc Id: NM_173511   ⟹   NP_775782
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,634,969 - 202,769,757 (+)NCBI
GRCh372203,499,901 - 203,634,480 (+)RGD
Build 362203,208,456 - 203,342,725 (+)NCBI Archive
Celera2197,252,014 - 197,387,230 (+)RGD
HuRef2195,346,934 - 195,481,383 (+)RGD
CHM1_12203,506,619 - 203,641,107 (+)NCBI
T2T-CHM13v2.02203,116,388 - 203,251,211 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_775782   ⟸   NM_173511
- UniProtKB: Q8N8W1 (UniProtKB/Swiss-Prot),   Q585T9 (UniProtKB/Swiss-Prot),   Q53QZ5 (UniProtKB/Swiss-Prot),   Q96Q34 (UniProtKB/Swiss-Prot),   Q6P1L5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000376071   ⟸   ENST00000392238

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6P1L5-F1-model_v2 AlphaFold Q6P1L5 1-589 view protein structure

Promoters
RGD ID:6797456
Promoter ID:HG_KWN:36772
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000261012,   ENST00000303116,   OTTHUMT00000335890
Position:
Human AssemblyChrPosition (strand)Source
Build 362203,207,666 - 203,208,927 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14440 AgrOrtholog
COSMIC FAM117B COSMIC
Ensembl Genes ENSG00000138439 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000392238 ENTREZGENE
  ENST00000392238.3 UniProtKB/Swiss-Prot
GTEx ENSG00000138439 GTEx
HGNC ID HGNC:14440 ENTREZGENE
Human Proteome Map FAM117B Human Proteome Map
InterPro Glcci1/FAM117 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:150864 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 150864 ENTREZGENE
PANTHER PTHR14972 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14972:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM117 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164719514 PharmGKB
UniProt F117B_HUMAN UniProtKB/Swiss-Prot
  Q53QZ5 ENTREZGENE
  Q585T9 ENTREZGENE
  Q6P1L5 ENTREZGENE
  Q7Z3M2_HUMAN UniProtKB/TrEMBL
  Q8N8W1 ENTREZGENE
  Q96Q34 ENTREZGENE
UniProt Secondary Q53QZ5 UniProtKB/Swiss-Prot
  Q585T9 UniProtKB/Swiss-Prot
  Q8N8W1 UniProtKB/Swiss-Prot
  Q96Q34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM117B  family with sequence similarity 117 member B    family with sequence similarity 117, member B  Symbol and/or name change 5135510 APPROVED