FAM120B (family with sequence similarity 120 member B) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: FAM120B (family with sequence similarity 120 member B) Homo sapiens
Analyze
Symbol: FAM120B
Name: family with sequence similarity 120 member B
RGD ID: 1321130
HGNC Page HGNC:21109
Description: Predicted to be involved in fat cell differentiation and peroxisome proliferator activated receptor signaling pathway. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CCPG; constitutive coactivator of peroxisome proliferator-activated receptor gamma; constitutive coactivator of PPAR-gamma; constitutive coactivator of PPARG; dJ894D12.1; family with sequence similarity 120B; FLJ55614; KIAA0183; KIAA1838; PGCC1; PPARG constitutive coactivator 1; PPARgamma constitutive coactivator 1; SAN1; senataxin-associated nuclease 1
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
GRCh386170,290,703 - 170,407,067 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6170,290,703 - 170,407,067 (+)EnsemblGRCh38hg38GRCh38
GRCh376170,599,791 - 170,716,155 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366170,457,769 - 170,556,162 (+)NCBINCBI36Build 36hg18NCBI36
Build 346170,533,475 - 170,631,868NCBI
Celera6171,413,409 - 171,510,239 (+)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6168,122,561 - 168,220,196 (+)NCBIHuRef
CHM1_16170,878,064 - 170,976,125 (+)NCBICHM1_1
T2T-CHM13v2.06171,649,394 - 171,778,062 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11347906   PMID:12477932   PMID:14585507   PMID:14702039   PMID:16189514   PMID:17353931   PMID:17595322   PMID:20379614   PMID:21145461   PMID:21873635   PMID:21980299   PMID:21988832  
PMID:24163370   PMID:26186194   PMID:26972000   PMID:28514442   PMID:29467282   PMID:29968717   PMID:31091453   PMID:32296183   PMID:33187986   PMID:33729478   PMID:33961781   PMID:34339838  
PMID:34728620   PMID:35256949   PMID:35563538   PMID:36114006   PMID:36168628   PMID:36215168   PMID:36849460   PMID:37499664  


Genomics

Comparative Map Data
FAM120B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386170,290,703 - 170,407,067 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6170,290,703 - 170,407,067 (+)EnsemblGRCh38hg38GRCh38
GRCh376170,599,791 - 170,716,155 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366170,457,769 - 170,556,162 (+)NCBINCBI36Build 36hg18NCBI36
Build 346170,533,475 - 170,631,868NCBI
Celera6171,413,409 - 171,510,239 (+)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6168,122,561 - 168,220,196 (+)NCBIHuRef
CHM1_16170,878,064 - 170,976,125 (+)NCBICHM1_1
T2T-CHM13v2.06171,649,394 - 171,778,062 (+)NCBIT2T-CHM13v2.0
Fam120b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391715,616,464 - 15,653,843 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1715,616,464 - 15,653,845 (+)EnsemblGRCm39 Ensembl
GRCm381715,396,202 - 15,433,581 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1715,396,202 - 15,433,583 (+)EnsemblGRCm38mm10GRCm38
MGSCv371715,533,166 - 15,570,545 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361715,101,209 - 15,138,544 (+)NCBIMGSCv36mm8
Celera1716,183,831 - 16,221,210 (+)NCBICelera
Cytogenetic Map17A2NCBI
cM Map178.95NCBI
Fam120b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8164,993,104 - 65,058,160 (+)NCBIGRCr8
mRatBN7.2156,320,015 - 56,385,064 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl156,339,129 - 56,385,061 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx161,191,163 - 61,237,363 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0169,854,662 - 69,900,910 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0163,101,134 - 63,147,334 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0157,345,559 - 57,392,114 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl157,345,577 - 57,392,113 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01242,134,623 - 242,181,177 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4154,267,141 - 54,311,423 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1154,270,090 - 54,316,002 (+)NCBI
Celera152,548,278 - 52,593,638 (+)NCBICelera
Cytogenetic Map1q12NCBI
Fam120b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554113,387,368 - 3,457,123 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554113,386,801 - 3,478,141 (-)NCBIChiLan1.0ChiLan1.0
FAM120B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25190,569,755 - 190,674,956 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16188,482,661 - 188,579,485 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06168,464,682 - 168,563,784 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16173,561,251 - 173,658,625 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6173,545,329 - 173,658,879 (+)Ensemblpanpan1.1panPan2
FAM120B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11272,292,419 - 72,377,839 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1272,306,154 - 72,381,786 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1272,050,495 - 72,140,451 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01273,272,398 - 73,362,935 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1273,272,442 - 73,362,921 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11272,546,237 - 72,636,153 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01272,368,052 - 72,458,269 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01272,758,788 - 72,849,190 (+)NCBIUU_Cfam_GSD_1.0
Fam120b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946151,299,865 - 151,369,419 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004937098145,094 - 212,301 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004937098144,870 - 212,620 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM120B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl196,218 - 186,769 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11121,143 - 186,783 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21228,756 - 268,387 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM120B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11397,827,304 - 97,912,176 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1397,829,758 - 97,912,116 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604069,830,694 - 69,918,827 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam120b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248506,165,175 - 6,253,695 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248506,156,155 - 6,253,609 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM120B
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q27(chr6:168524169-170612001)x1 copy number loss See cases [RCV000050982] Chr6:168524169..170612001 [GRCh38]
Chr6:168924849..170921089 [GRCh37]
Chr6:168667698..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169441378-170612001)x1 copy number loss See cases [RCV000050605] Chr6:169441378..170612001 [GRCh38]
Chr6:169841473..170921089 [GRCh37]
Chr6:169583398..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169641704-170612001)x1 copy number loss See cases [RCV000051219] Chr6:169641704..170612001 [GRCh38]
Chr6:170041800..170921089 [GRCh37]
Chr6:169783725..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167838308-170581020)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|See cases [RCV000052228] Chr6:167838308..170581020 [GRCh38]
Chr6:168238988..170890108 [GRCh37]
Chr6:167981837..170732033 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167924952-170602152)x1 copy number loss See cases [RCV000052229] Chr6:167924952..170602152 [GRCh38]
Chr6:168325632..170911240 [GRCh37]
Chr6:168068481..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:168180473-170583214)x1 copy number loss See cases [RCV000052230] Chr6:168180473..170583214 [GRCh38]
Chr6:168581153..170892302 [GRCh37]
Chr6:168324002..170734227 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169021176-170602152)x1 copy number loss See cases [RCV000052243] Chr6:169021176..170602152 [GRCh38]
Chr6:169421271..170911240 [GRCh37]
Chr6:169163196..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170230802-170358419)x1 copy number loss See cases [RCV000135889] Chr6:170230802..170358419 [GRCh38]
Chr6:170540592..170667507 [GRCh37]
Chr6:170382517..170509432 [NCBI36]
Chr6:6q27		 benign
GRCh38/hg38 6q27(chr6:170257060-170714507)x1 copy number loss See cases [RCV000137422] Chr6:170257060..170714507 [GRCh38]
Chr6:170566148..171023595 [GRCh37]
Chr6:170408073..170865520 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:167145050-170714507)x1 copy number loss See cases [RCV000137523] Chr6:167145050..170714507 [GRCh38]
Chr6:167558538..171023595 [GRCh37]
Chr6:167478528..170865520 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:168802993-170714507)x1 copy number loss See cases [RCV000137643] Chr6:168802993..170714507 [GRCh38]
Chr6:169203088..171023595 [GRCh37]
Chr6:168945013..170865520 [NCBI36]
Chr6:6q27		 likely pathogenic
NM_032448.2(FAM120B):c.2140G>A (p.Glu714Lys) single nucleotide variant Malignant melanoma [RCV000067220] Chr6:170348273 [GRCh38]
Chr6:170657361 [GRCh37]
Chr6:170499286 [NCBI36]
Chr6:6q27		 not provided
GRCh38/hg38 6q27(chr6:169688809-170583214)x1 copy number loss See cases [RCV000136831] Chr6:169688809..170583214 [GRCh38]
Chr6:170088905..170892302 [GRCh37]
Chr6:169830830..170734227 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170210927-170714507)x1 copy number loss See cases [RCV000137398] Chr6:170210927..170714507 [GRCh38]
Chr6:170526161..171023595 [GRCh37]
Chr6:170368086..170865520 [NCBI36]
Chr6:6q27		 likely pathogenic|uncertain significance
GRCh38/hg38 6q27(chr6:168881467-170602152)x1 copy number loss See cases [RCV000137746] Chr6:168881467..170602152 [GRCh38]
Chr6:169281562..170911240 [GRCh37]
Chr6:169023487..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170282502-170499171)x1 copy number loss See cases [RCV000138722] Chr6:170282502..170499171 [GRCh38]
Chr6:170591590..170808259 [GRCh37]
Chr6:170433515..170650184 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:167896913-170714507)x1 copy number loss See cases [RCV000140812] Chr6:167896913..170714507 [GRCh38]
Chr6:168297593..171023595 [GRCh37]
Chr6:168040442..170865520 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170187559-170610394)x3 copy number gain See cases [RCV000141988] Chr6:170187559..170610394 [GRCh38]
Chr6:170502783..170919482 [GRCh37]
Chr6:170344708..170761407 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:167760366-170610394)x1 copy number loss See cases [RCV000143582] Chr6:167760366..170610394 [GRCh38]
Chr6:168161046..170919482 [GRCh37]
Chr6:167903895..170761407 [NCBI36]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q27(chr6:170713690-170890384)x3 copy number gain Premature ovarian failure [RCV000225169] Chr6:170713690..170890384 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:167770398-170919482)x1 copy number loss See cases [RCV002285064] Chr6:167770398..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:169131334-170919482)x3 copy number gain See cases [RCV000446893] Chr6:169131334..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:168923404-170919482)x1 copy number loss See cases [RCV000448842] Chr6:168923404..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27		 uncertain significance
NM_032448.3(FAM120B):c.101A>T (p.Tyr34Phe) single nucleotide variant not specified [RCV004299147] Chr6:170317491 [GRCh38]
Chr6:170626579 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.2612G>A (p.Arg871Lys) single nucleotide variant not specified [RCV004296693] Chr6:170395499 [GRCh38]
Chr6:170704587 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:170331096-170894127)x3 copy number gain not provided [RCV000682752] Chr6:170331096..170894127 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:167388817-170919482)x1 copy number loss not provided [RCV000682747] Chr6:167388817..170919482 [GRCh37]
Chr6:6q27		 pathogenic
Single allele duplication not provided [RCV000677950] Chr6:170591590..171025515 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NC_000006.12:g.170299941_170556913dup duplication Primary amenorrhea [RCV000754426] Chr6:170299941..170556913 [GRCh38]
Chr6:170609029..170866001 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:169854753-170919470)x1 copy number loss not provided [RCV000746261] Chr6:169854753..170919470 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:167440417-170919482)x1 copy number loss not provided [RCV001005882] Chr6:167440417..170919482 [GRCh37]
Chr6:6q27		 pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27		 likely pathogenic
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:168311806-170881789) copy number loss not provided [RCV000767674] Chr6:168311806..170881789 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170331096-170919482)x1 copy number loss not provided [RCV001005886] Chr6:170331096..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:170356782-170618134)x3 copy number gain not provided [RCV001005887] Chr6:170356782..170618134 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 copy number loss not provided [RCV002472604] Chr6:163181847..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:170136337-170919482)x1 copy number loss not provided [RCV001005885] Chr6:170136337..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:169830713-171022896)x1 copy number loss Intellectual developmental disorder with seizures and language delay [RCV001801212] Chr6:169830713..171022896 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168051206-170919482)x1 copy number loss not provided [RCV001827651] Chr6:168051206..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162212864-170919482) copy number gain not specified [RCV002053652] Chr6:162212864..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:170230181-170919482) copy number loss not specified [RCV002053661] Chr6:170230181..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:170262214-170919482) copy number loss not specified [RCV002053662] Chr6:170262214..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:161047873-170919482) copy number loss not specified [RCV002053651] Chr6:161047873..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482) copy number loss not specified [RCV002053653] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:168939661-170919482)x1 copy number loss not provided [RCV001836576] Chr6:168939661..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163290087-170919482) copy number loss not specified [RCV002053655] Chr6:163290087..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:167317903-170919482) copy number loss not specified [RCV002053659] Chr6:167317903..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:168552894-170919482)x1 copy number loss See cases [RCV002292396] Chr6:168552894..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170657577-170919482)x1 copy number loss See cases [RCV002292702] Chr6:170657577..170919482 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:168643852-170919482) copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV002280750] Chr6:168643852..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 copy number loss not provided [RCV002293168] Chr6:163836226..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_032448.3(FAM120B):c.2498G>A (p.Arg833Gln) single nucleotide variant not specified [RCV004198895] Chr6:170391020 [GRCh38]
Chr6:170700108 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.277G>A (p.Val93Met) single nucleotide variant not specified [RCV004088897] Chr6:170317667 [GRCh38]
Chr6:170626755 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.697A>G (p.Ile233Val) single nucleotide variant not specified [RCV004235351] Chr6:170318087 [GRCh38]
Chr6:170627175 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1505A>G (p.His502Arg) single nucleotide variant not specified [RCV004218033] Chr6:170318895 [GRCh38]
Chr6:170627983 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.2479T>G (p.Leu827Val) single nucleotide variant not specified [RCV004199332] Chr6:170388482 [GRCh38]
Chr6:170697570 [GRCh37]
Chr6:6q27		 likely benign
NM_032448.3(FAM120B):c.583G>A (p.Glu195Lys) single nucleotide variant not specified [RCV004191936] Chr6:170317973 [GRCh38]
Chr6:170627061 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1364C>T (p.Ser455Phe) single nucleotide variant not specified [RCV004146441] Chr6:170318754 [GRCh38]
Chr6:170627842 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.819A>C (p.Lys273Asn) single nucleotide variant not specified [RCV004153975] Chr6:170318209 [GRCh38]
Chr6:170627297 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1357A>G (p.Thr453Ala) single nucleotide variant not specified [RCV004166083] Chr6:170318747 [GRCh38]
Chr6:170627835 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1526C>T (p.Pro509Leu) single nucleotide variant not specified [RCV004089879] Chr6:170318916 [GRCh38]
Chr6:170628004 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.475G>A (p.Ala159Thr) single nucleotide variant not specified [RCV004118508] Chr6:170317865 [GRCh38]
Chr6:170626953 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1537G>C (p.Asp513His) single nucleotide variant not specified [RCV004120490] Chr6:170318927 [GRCh38]
Chr6:170628015 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.760A>G (p.Lys254Glu) single nucleotide variant not specified [RCV004241959] Chr6:170318150 [GRCh38]
Chr6:170627238 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1006G>A (p.Glu336Lys) single nucleotide variant not specified [RCV004075758] Chr6:170318396 [GRCh38]
Chr6:170627484 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.487G>A (p.Val163Ile) single nucleotide variant not specified [RCV004148660] Chr6:170317877 [GRCh38]
Chr6:170626965 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1687G>A (p.Glu563Lys) single nucleotide variant not specified [RCV004075460] Chr6:170319077 [GRCh38]
Chr6:170628165 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1067G>T (p.Cys356Phe) single nucleotide variant not specified [RCV004094330] Chr6:170318457 [GRCh38]
Chr6:170627545 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1627G>C (p.Glu543Gln) single nucleotide variant not specified [RCV004299664] Chr6:170319017 [GRCh38]
Chr6:170628105 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1209G>A (p.Met403Ile) single nucleotide variant not specified [RCV004275149] Chr6:170318599 [GRCh38]
Chr6:170627687 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1544T>C (p.Ile515Thr) single nucleotide variant not specified [RCV004354161] Chr6:170318934 [GRCh38]
Chr6:170628022 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.644T>C (p.Leu215Pro) single nucleotide variant not specified [RCV004361963] Chr6:170318034 [GRCh38]
Chr6:170627122 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.959G>A (p.Gly320Asp) single nucleotide variant not specified [RCV004336267] Chr6:170318349 [GRCh38]
Chr6:170627437 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:167091844-170919482)x1 copy number loss not provided [RCV003482936] Chr6:167091844..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170466312-170919482)x1 copy number loss not provided [RCV003482941] Chr6:170466312..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170441452-170808613)x1 copy number loss not provided [RCV003482940] Chr6:170441452..170808613 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q27(chr6:170158867-170919482)x1 copy number loss not specified [RCV003986633] Chr6:170158867..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 copy number loss not specified [RCV003986639] Chr6:162079329..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 copy number loss not provided [RCV003885515] Chr6:162124972..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_032448.3(FAM120B):c.1327T>C (p.Ser443Pro) single nucleotide variant not provided [RCV003885715] Chr6:170318717 [GRCh38]
Chr6:170627805 [GRCh37]
Chr6:6q27		 likely benign
NM_032448.3(FAM120B):c.218A>G (p.Asp73Gly) single nucleotide variant not specified [RCV004378609] Chr6:170317608 [GRCh38]
Chr6:170626696 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.2560C>T (p.Arg854Cys) single nucleotide variant not specified [RCV004378611] Chr6:170391082 [GRCh38]
Chr6:170700170 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1370C>A (p.Pro457His) single nucleotide variant not specified [RCV004378606] Chr6:170318760 [GRCh38]
Chr6:170627848 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1943A>C (p.Lys648Thr) single nucleotide variant not specified [RCV004378608] Chr6:170330476 [GRCh38]
Chr6:170639564 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1108G>A (p.Asp370Asn) single nucleotide variant not specified [RCV004378603] Chr6:170318498 [GRCh38]
Chr6:170627586 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1280T>C (p.Met427Thr) single nucleotide variant not specified [RCV004378605] Chr6:170318670 [GRCh38]
Chr6:170627758 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1810A>G (p.Ser604Gly) single nucleotide variant not specified [RCV004378607] Chr6:170323154 [GRCh38]
Chr6:170632242 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.506A>G (p.Gln169Arg) single nucleotide variant not specified [RCV004378614] Chr6:170317896 [GRCh38]
Chr6:170626984 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1003G>A (p.Ala335Thr) single nucleotide variant not specified [RCV004378602] Chr6:170318393 [GRCh38]
Chr6:170627481 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1259A>T (p.Glu420Val) single nucleotide variant not specified [RCV004378604] Chr6:170318649 [GRCh38]
Chr6:170627737 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.2604G>C (p.Arg868Ser) single nucleotide variant not specified [RCV004378612] Chr6:170395491 [GRCh38]
Chr6:170704579 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.38C>T (p.Thr13Ile) single nucleotide variant not specified [RCV004378613] Chr6:170317428 [GRCh38]
Chr6:170626516 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:170014772-170714507)x1 copy number loss See cases [RCV000139129] Chr6:170014772..170714507 [GRCh38]
Chr6:170329996..171023595 [GRCh37]
Chr6:170171921..170865520 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:168581259-170610394)x1 copy number loss See cases [RCV000140451] Chr6:168581259..170610394 [GRCh38]
Chr6:168981939..170919482 [GRCh37]
Chr6:168724788..170761407 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167963618-170597678)x1 copy number loss See cases [RCV000139526] Chr6:167963618..170597678 [GRCh38]
Chr6:168364298..170906766 [GRCh37]
Chr6:168107147..170748691 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:168827897-170919482)x1 copy number loss See cases [RCV000447973] Chr6:168827897..170919482 [GRCh37]
Chr6:6q27		 pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:170653923-170919482)x3 copy number gain not provided [RCV000845860] Chr6:170653923..170919482 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:167580012-170919482)x1 copy number loss not provided [RCV001258925] Chr6:167580012..170919482 [GRCh37]
Chr6:6q27		 pathogenic
NM_032448.3(FAM120B):c.1153C>T (p.Pro385Ser) single nucleotide variant not specified [RCV004121215] Chr6:170318543 [GRCh38]
Chr6:170627631 [GRCh37]
Chr6:6q27		 likely benign
NM_032448.3(FAM120B):c.137T>C (p.Met46Thr) single nucleotide variant not specified [RCV004084903] Chr6:170317527 [GRCh38]
Chr6:170626615 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1934T>C (p.Leu645Pro) single nucleotide variant not specified [RCV004251026] Chr6:170330467 [GRCh38]
Chr6:170639555 [GRCh37]
Chr6:6q27		 likely benign
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 copy number loss not provided [RCV003334287] Chr6:160952761..170892276 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_032448.3(FAM120B):c.1854G>C (p.Gln618His) single nucleotide variant not specified [RCV004334972] Chr6:170323198 [GRCh38]
Chr6:170632286 [GRCh37]
Chr6:6q27		 uncertain significance
NM_032448.3(FAM120B):c.1530A>G (p.Ile510Met) single nucleotide variant not specified [RCV004339743] Chr6:170318920 [GRCh38]
Chr6:170628008 [GRCh37]
Chr6:6q27		 likely benign
NM_032448.3(FAM120B):c.1111T>C (p.Ser371Pro) single nucleotide variant not specified [RCV004353576] Chr6:170318501 [GRCh38]
Chr6:170627589 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 copy number loss See cases [RCV004442824] Chr6:152853218..170914297 [GRCh37]
Chr6:6q25.2-27		 pathogenic
NM_032448.3(FAM120B):c.2392G>C (p.Asp798His) single nucleotide variant not specified [RCV004378610] Chr6:170388395 [GRCh38]
Chr6:170697483 [GRCh37]
Chr6:6q27		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1791
Count of miRNA genes:687
Interacting mature miRNAs:775
Transcripts:ENST00000252510, ENST00000476287, ENST00000496635, ENST00000537664, ENST00000540480
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D6S1330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,666,143 - 170,666,243UniSTSGRCh37
Build 366170,508,068 - 170,508,168RGDNCBI36
Celera6171,463,706 - 171,463,806RGD
Cytogenetic Map6q27UniSTS
HuRef6168,172,865 - 168,172,965UniSTS
Whitehead-YAC Contig Map6 UniSTS
WIAF-2186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,713,925 - 170,714,054UniSTSGRCh37
Build 366170,555,850 - 170,555,979RGDNCBI36
Celera6171,509,927 - 171,510,056RGD
Cytogenetic Map6q27UniSTS
HuRef6168,219,884 - 168,220,013UniSTS
GeneMap99-GB4 RH Map6645.75UniSTS
NCBI RH Map61683.0UniSTS
D6S1887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,672,692 - 170,672,815UniSTSGRCh37
Build 366170,514,617 - 170,514,740RGDNCBI36
Celera6171,470,259 - 171,470,382RGD
Cytogenetic Map6q27UniSTS
HuRef6168,179,430 - 168,179,553UniSTS
GeneMap99-GB4 RH Map6649.36UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH79752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,622,377 - 170,622,504UniSTSGRCh37
Build 366170,464,302 - 170,464,429RGDNCBI36
Celera6171,419,942 - 171,420,069RGD
Cytogenetic Map6q27UniSTS
HuRef6168,129,093 - 168,129,220UniSTS
G48238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,640,224 - 170,640,369UniSTSGRCh37
Build 366170,482,149 - 170,482,294RGDNCBI36
Celera6171,437,789 - 171,437,934RGD
Cytogenetic Map6q27UniSTS
HuRef6168,146,948 - 168,147,093UniSTS
TNG Radiation Hybrid Map684450.0UniSTS
SHGC-144156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,619,746 - 170,620,017UniSTSGRCh37
Build 366170,461,671 - 170,461,942RGDNCBI36
Celera6171,417,311 - 171,417,582RGD
Cytogenetic Map6q27UniSTS
HuRef6168,126,463 - 168,126,734UniSTS
TNG Radiation Hybrid Map684436.0UniSTS
D6S374E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,714,444 - 170,714,519UniSTSGRCh37
Build 366170,556,369 - 170,556,444RGDNCBI36
Celera6171,510,446 - 171,510,521RGD
Cytogenetic Map6q27UniSTS
HuRef6168,220,403 - 168,220,478UniSTS
AL031508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,697,034 - 170,697,187UniSTSGRCh37
Build 366170,538,959 - 170,539,112RGDNCBI36
Celera6171,494,358 - 171,494,511RGD
Cytogenetic Map6q27UniSTS
HuRef6168,203,774 - 168,203,927UniSTS
D6S1244E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,712,618 - 170,712,762UniSTSGRCh37
Build 366170,554,543 - 170,554,687RGDNCBI36
Celera6171,508,620 - 171,508,764RGD
Cytogenetic Map6q27UniSTS
HuRef6168,218,577 - 168,218,721UniSTS
GeneMap99-GB4 RH Map6643.86UniSTS


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 2148 1590 1306 246 1268 90 3833 1241 2532 284 1419 1556 172 1 1157 2294 5 2
Low 291 1399 420 378 681 375 524 956 1202 135 41 57 3 47 494 1
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC239411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY266458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ873695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000476287   ⟹   ENSP00000417970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,306,758 - 170,407,067 (+)Ensembl
RefSeq Acc Id: ENST00000496635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,404,179 - 170,405,078 (+)Ensembl
RefSeq Acc Id: ENST00000537664   ⟹   ENSP00000440125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,295,321 - 170,405,076 (+)Ensembl
RefSeq Acc Id: ENST00000625626   ⟹   ENSP00000485793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,306,758 - 170,405,642 (+)Ensembl
RefSeq Acc Id: ENST00000630384   ⟹   ENSP00000485745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6170,290,703 - 170,405,348 (+)Ensembl
RefSeq Acc Id: NM_001286379   ⟹   NP_001273308
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,290,703 - 170,407,067 (+)NCBI
HuRef6168,106,533 - 168,222,118 (+)NCBI
CHM1_16170,860,367 - 170,978,047 (+)NCBI
T2T-CHM13v2.06171,649,394 - 171,778,062 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286380   ⟹   NP_001273309
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,295,321 - 170,407,067 (+)NCBI
HuRef6168,106,533 - 168,222,118 (+)NCBI
CHM1_16170,866,629 - 170,978,047 (+)NCBI
T2T-CHM13v2.06171,654,012 - 171,778,062 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286381   ⟹   NP_001273310
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,407,067 (+)NCBI
HuRef6168,106,533 - 168,222,118 (+)NCBI
CHM1_16170,878,030 - 170,978,047 (+)NCBI
T2T-CHM13v2.06171,665,446 - 171,778,062 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032448   ⟹   NP_115824
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,407,067 (+)NCBI
GRCh376170,615,812 - 170,716,155 (+)NCBI
Build 366170,457,769 - 170,556,162 (+)NCBI Archive
Celera6171,413,409 - 171,510,239 (+)RGD
HuRef6168,106,533 - 168,222,118 (+)NCBI
CHM1_16170,878,030 - 170,978,047 (+)NCBI
T2T-CHM13v2.06171,665,446 - 171,778,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536185   ⟹   XP_011534487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,388,493 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011358   ⟹   XP_016866847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,372,219 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011359   ⟹   XP_016866848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,375,723 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011360   ⟹   XP_016866849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,375,723 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446569   ⟹   XP_024302337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,407,067 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446570   ⟹   XP_024302338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,372,219 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419414   ⟹   XP_047275370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,375,649 (+)NCBI
RefSeq Acc Id: XM_047419415   ⟹   XP_047275371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,388,493 (+)NCBI
RefSeq Acc Id: XM_054356552   ⟹   XP_054212527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,778,062 (+)NCBI
RefSeq Acc Id: XM_054356553   ⟹   XP_054212528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,732,197 (+)NCBI
RefSeq Acc Id: XM_054356554   ⟹   XP_054212529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,734,338 (+)NCBI
RefSeq Acc Id: XM_054356555   ⟹   XP_054212530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,732,197 (+)NCBI
RefSeq Acc Id: XM_054356556   ⟹   XP_054212531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,734,412 (+)NCBI
RefSeq Acc Id: XM_054356557   ⟹   XP_054212532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,734,412 (+)NCBI
RefSeq Acc Id: XM_054356558   ⟹   XP_054212533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,747,182 (+)NCBI
RefSeq Acc Id: XM_054356559   ⟹   XP_054212534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,747,182 (+)NCBI
RefSeq Acc Id: XR_002956306
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,388,374 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007059342
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,388,367 (+)NCBI
RefSeq Acc Id: XR_007059343
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,758 - 170,375,653 (+)NCBI
RefSeq Acc Id: XR_008487444
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,747,063 (+)NCBI
RefSeq Acc Id: XR_008487445
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,747,056 (+)NCBI
RefSeq Acc Id: XR_008487446
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,665,446 - 171,734,342 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001273308 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273309 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273310 (Get FASTA)   NCBI Sequence Viewer  
  NP_115824 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534487 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866847 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866848 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866849 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302337 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302338 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275370 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275371 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184660 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184662 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184663 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184664 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212532 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212533 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212534 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12177 (Get FASTA)   NCBI Sequence Viewer  
  AAP31032 (Get FASTA)   NCBI Sequence Viewer  
  ABH09086 (Get FASTA)   NCBI Sequence Viewer  
  BAB47467 (Get FASTA)   NCBI Sequence Viewer  
  BAG57665 (Get FASTA)   NCBI Sequence Viewer  
  BAG59317 (Get FASTA)   NCBI Sequence Viewer  
  BAG59396 (Get FASTA)   NCBI Sequence Viewer  
  BAG61736 (Get FASTA)   NCBI Sequence Viewer  
  EAW47424 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000417970
  ENSP00000417970.1
  ENSP00000440125
  ENSP00000440125.1
  ENSP00000477556.2
  ENSP00000479118.1
  ENSP00000481344.1
  ENSP00000482544.2
  ENSP00000485745
  ENSP00000485745.1
  ENSP00000485793
  ENSP00000485793.1
GenBank Protein Q96EK7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_115824   ⟸   NM_032448
- Peptide Label: isoform c
- UniProtKB: Q86V68 (UniProtKB/Swiss-Prot),   B4DL34 (UniProtKB/Swiss-Prot),   Q96JI9 (UniProtKB/Swiss-Prot),   Q96EK7 (UniProtKB/Swiss-Prot),   B4DG54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273308   ⟸   NM_001286379
- Peptide Label: isoform a
- UniProtKB: A0A0D9SEJ5 (UniProtKB/TrEMBL),   B4DG54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273309   ⟸   NM_001286380
- Peptide Label: isoform b
- UniProtKB: B4DSS4 (UniProtKB/TrEMBL),   F5GY05 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273310   ⟸   NM_001286381
- Peptide Label: isoform d
- UniProtKB: Q96EK7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534487   ⟸   XM_011536185
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016866848   ⟸   XM_017011359
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016866849   ⟸   XM_017011360
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016866847   ⟸   XM_017011358
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024302337   ⟸   XM_024446569
- Peptide Label: isoform X1
- UniProtKB: B4DG54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302338   ⟸   XM_024446570
- Peptide Label: isoform X2
- UniProtKB: B4DG54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000485793   ⟸   ENST00000625626
RefSeq Acc Id: ENSP00000440125   ⟸   ENST00000537664
RefSeq Acc Id: ENSP00000485745   ⟸   ENST00000630384
RefSeq Acc Id: ENSP00000417970   ⟸   ENST00000476287
RefSeq Acc Id: XP_047275371   ⟸   XM_047419415
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047275370   ⟸   XM_047419414
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054212527   ⟸   XM_054356552
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212534   ⟸   XM_054356559
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054212533   ⟸   XM_054356558
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054212531   ⟸   XM_054356556
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054212532   ⟸   XM_054356557
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054212529   ⟸   XM_054356554
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054212528   ⟸   XM_054356553
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212530   ⟸   XM_054356555
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96EK7-F1-model_v2 AlphaFold Q96EK7 1-910 view protein structure

Promoters
RGD ID:7209709
Promoter ID:EPDNEW_H10601
Type:initiation region
Name:FAM120B_1
Description:family with sequence similarity 120B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386170,306,762 - 170,306,822EPDNEW
RGD ID:6804655
Promoter ID:HG_KWN:55863
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:OTTHUMT00000043259,   OTTHUMT00000043261,   UC003QXO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366170,457,544 - 170,458,044 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21109 AgrOrtholog
COSMIC FAM120B COSMIC
Ensembl Genes ENSG00000112584 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275333 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000476287 ENTREZGENE
  ENST00000476287.4 UniProtKB/Swiss-Prot
  ENST00000537664 ENTREZGENE
  ENST00000537664.5 UniProtKB/TrEMBL
  ENST00000616072.2 UniProtKB/Swiss-Prot
  ENST00000617082.4 UniProtKB/Swiss-Prot
  ENST00000619268.4 UniProtKB/TrEMBL
  ENST00000622189.4 UniProtKB/TrEMBL
  ENST00000625626 ENTREZGENE
  ENST00000625626.1 UniProtKB/Swiss-Prot
  ENST00000630384 ENTREZGENE
  ENST00000630384.2 UniProtKB/TrEMBL
Gene3D-CATH 5'-nuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112584 GTEx
  ENSG00000275333 GTEx
HGNC ID HGNC:21109 ENTREZGENE
Human Proteome Map FAM120B Human Proteome Map
InterPro Coact_PPARg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84498 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84498 ENTREZGENE
OMIM 612266 OMIM
PANTHER CONSTITUTIVE COACTIVATOR OF PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15976 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134920525 PharmGKB
Superfamily-SCOP SSF88723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SEJ5 ENTREZGENE, UniProtKB/TrEMBL
  B4DG54 ENTREZGENE, UniProtKB/TrEMBL
  B4DL34 ENTREZGENE
  B4DSS4 ENTREZGENE, UniProtKB/TrEMBL
  F120B_HUMAN UniProtKB/Swiss-Prot
  F5GY05 ENTREZGENE, UniProtKB/TrEMBL
  Q86V68 ENTREZGENE
  Q96EK7 ENTREZGENE
  Q96JI9 ENTREZGENE
UniProt Secondary B4DL34 UniProtKB/Swiss-Prot
  Q86V68 UniProtKB/Swiss-Prot
  Q96JI9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-26 FAM120B  family with sequence similarity 120 member B  FAM120B  family with sequence similarity 120B  Symbol and/or name change 19259463 PROVISIONAL