![]() |
![]() |
Create Name: | |
Description: |
![]() |
Save what matters to you |
{{ loginError }} |
Sign in with your RGD account |
Create New Account | Recover Password |
Analyze GeneStrainQTL List |
![]() Gene Annotator (Functional Annotation) unavailable |
![]() Gene Annotator (Annotation Distribution) unavailable |
![]() Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
![]() InterViewer (Protein-Protein Interactions) unavailable |
![]() Gviewer (Genome Viewer) unavailable |
![]() Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
![]() Gene Annotator (Annotation Comparison) unavailable |
![]() OLGA (Gene List Generator) unavailable |
![]() |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
![]() MOET (Multi-Ontology Enrichement) unavailable |
![]() GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 2-hydroxypropanoic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of FAM166B mRNA | CTD | PMID:30851411 | aflatoxin B1 | decreases methylation | EXP | | 6480464 | Aflatoxin B1 results in decreased methylation of FAM166B intron | CTD | PMID:30157460 | bis(2-ethylhexyl) phthalate | decreases expression | EXP | | 6480464 | Diethylhexyl Phthalate results in decreased expression of FAM166B mRNA | CTD | PMID:31163220 | butanal | increases expression | EXP | | 6480464 | butyraldehyde results in increased expression of FAM166B mRNA | CTD | PMID:26079696 | carbon nanotube | decreases expression | ISO | RGD:1616424 | 6480464 | Nanotubes, Carbon analog results in decreased expression of FAM166B mRNA, Nanotubes, Carbon results in decreased expression of FAM166B mRNA | CTD | PMID:25554681 | dibenz[a,h]anthracene | decreases expression | ISO | RGD:1616424 | 6480464 | 1 more ... | CTD | PMID:26377693 | dorsomorphin | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FAM166B mRNA | CTD | PMID:27188386 | pentanal | increases expression | EXP | | 6480464 | pentanal results in increased expression of FAM166B mRNA | CTD | PMID:26079696 | pirinixic acid | increases expression | ISO | RGD:1616424 | 6480464 | pirinixic acid results in increased expression of FAM166B mRNA | CTD | PMID:20813756 | rac-lactic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of FAM166B mRNA | CTD | PMID:30851411 | SB 431542 | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FAM166B mRNA | CTD | PMID:27188386 | titanium dioxide | affects expression | ISO | RGD:1616424 | 6480464 | titanium dioxide affects the expression of FAM166B mRNA | CTD | PMID:23557971 | torcetrapib | increases expression | EXP | | 6480464 | torcetrapib results in increased expression of FAM166B mRNA | CTD | PMID:23228038 | valproic acid | increases methylation | EXP | | 6480464 | Valproic Acid results in increased methylation of FAM166B gene | CTD | PMID:29154799 | valproic acid | decreases expression | EXP | | 6480464 | Valproic Acid results in decreased expression of FAM166B mRNA | CTD | PMID:23179753, PMID:26272509 | valproic acid | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FAM166B mRNA | CTD | PMID:27188386 | |
|
|
|
|
|
1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
FAM166B (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fam166b (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fam166b (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fam166b (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FAM166B (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FAM166B (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fam166b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FAM166B (Sus scrofa - pig) |
|
WI-14686 |
|
|||||||||||||||||||||||||||||||||||||||||||||
HSC03D022 |
|
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. |
RefSeq Transcripts | NM_001099951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001164310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001287238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001287239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011518028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AI383111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL133476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC129999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC146928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC146933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC171840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC171851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB241755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001099951 ⟹ NP_001093421 | |||||||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||||||||||||
Position: |
|
|||||||||||||||||||||||||||||||||||||||
Sequence: |
AGCCCTGGACACGGTACACACAGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGhide sequence |
RefSeq Acc Id: | NM_001164310 ⟹ NP_001157782 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
AGCCCTGGACACGGTACACACAGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGhide sequence |
RefSeq Acc Id: | NM_001287238 ⟹ NP_001274167 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
|
|||||||||||||||||||
Sequence: |
AGCCCTGGACACGGTACACACAGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGhide sequence |
RefSeq Acc Id: | NM_001287239 ⟹ NP_001274168 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
|
|||||||||||||||||||
Sequence: |
AGCCCTGGACACGGTACACACAGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGhide sequence |
RefSeq Acc Id: | XM_011518028 ⟹ XP_011516330 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
|
|||||||||
Sequence: |
CCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGGCTCCCCATGGCTGTGGCCAGCACCTTCAThide sequence |
Protein RefSeqs | NP_001093421 | (Get FASTA) | NCBI Sequence Viewer |
NP_001157782 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001274167 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001274168 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011516330 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A8MTA8 | (Get FASTA) | NCBI Sequence Viewer |
AAI30000 | (Get FASTA) | NCBI Sequence Viewer | |
AAI46929 | (Get FASTA) | NCBI Sequence Viewer | |
AAI46934 | (Get FASTA) | NCBI Sequence Viewer | |
AAI71840 | (Get FASTA) | NCBI Sequence Viewer | |
AAI71851 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001093421 ⟸ NM_001099951 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A8MTA8 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIhide sequence |
RefSeq Acc Id: | NP_001157782 ⟸ NM_001164310 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A8MTA8 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIhide sequence |
RefSeq Acc Id: | NP_001274168 ⟸ NM_001287239 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A8MTA8 (UniProtKB/Swiss-Prot), B7ZW26 (UniProtKB/TrEMBL), B7ZW33 (UniProtKB/TrEMBL) |
- Sequence: |
MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIhide sequence |
RefSeq Acc Id: | NP_001274167 ⟸ NM_001287238 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B7ZW26 (UniProtKB/TrEMBL) |
- Sequence: |
MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIhide sequence |
RefSeq Acc Id: | XP_011516330 ⟸ XM_011518028 |
- Peptide Label: | isoform X1 |
- Sequence: |
MAGQGDSGEWESLCCRYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIRPPRShide sequence |
RGD ID: | 6816600 | |||||||||
Promoter ID: | HG_SPT:61813 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | K562 | |||||||||
Transcripts: | AA441812, AA576476, AI016405, AI292343, AI383111, AI393723, AI423515, AI932283, CA315062, CA449961, CB241755 | |||||||||
Position: |
|
RGD ID: | 7214999 | |||||||||
Promoter ID: | EPDNEW_H13245 | |||||||||
Type: | initiation region | |||||||||
Name: | FAM166B_2 | |||||||||
Description: | family with sequence similarity 166 member B | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001135999.1(RUSC2):c.3006C>T (p.Ile1002=) | single nucleotide variant | Malignant melanoma [RCV000068650] | Chr9:35557936 [GRCh38] Chr9:35557933 [GRCh37] Chr9:35547933 [NCBI36] Chr9:9p13.3 |
not provided |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 | copy number gain | See cases [RCV000133829] | Chr9:33225730..38529813 [GRCh38] Chr9:33225728..38529810 [GRCh37] Chr9:33215728..38519810 [NCBI36] Chr9:9p13.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 | copy number loss | See cases [RCV000134762] | Chr9:33572681..36782015 [GRCh38] Chr9:33572679..36782012 [GRCh37] Chr9:33562679..36772012 [NCBI36] Chr9:9p13.3-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) | copy number gain | See cases [RCV000140448] | Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 | copy number gain | See cases [RCV000141663] | Chr9:31426827..68257015 [GRCh38] Chr9:31426825..68330127 [GRCh37] Chr9:31416825..67819947 [NCBI36] Chr9:9p21.1-q21.11 |
pathogenic |
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 | copy number gain | See cases [RCV000142317] | Chr9:28975663..38787483 [GRCh38] Chr9:28975661..38787480 [GRCh37] Chr9:28965661..38777480 [NCBI36] Chr9:9p21.1-13.1 |
likely pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 | copy number gain | See cases [RCV000510986] | Chr9:17132123..35567051 [GRCh37] Chr9:9p22.2-13.3 |
pathogenic |
NC_000009.11:g.(?_34458984)_(35809462_?)dup | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] | Chr9:34458984..35809462 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
NC_000009.11:g.(?_34645556)_(36277059_?)dup | duplication | Anauxetic dysplasia [RCV000708053] | Chr9:34645559..36277062 [GRCh38] Chr9:34645556..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_34458984)_(36277059_?)dup | duplication | Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] | Chr9:34458984..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_34458984)_(35809462_?)del | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] | Chr9:34458984..35809462 [GRCh37] Chr9:9p13.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 | copy number gain | not provided [RCV000849826] | Chr9:34542635..68210033 [GRCh37] Chr9:9p13.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:34242 | AgrOrtholog |
COSMIC | FAM166B | COSMIC |
Ensembl Genes | ENSG00000215187 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000382646 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000412746 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000480923 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSP00000492818 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000399742 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000447837 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000619051 | ENTREZGENE, UniProtKB/TrEMBL | |
ENST00000639789 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000215187 | GTEx |
HGNC ID | HGNC:34242 | ENTREZGENE |
Human Proteome Map | FAM166B | Human Proteome Map |
InterPro | UPF0573/UPF0605 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:730112 | UniProtKB/Swiss-Prot |
NCBI Gene | 730112 | ENTREZGENE |
Pfam | DUF2475 | UniProtKB/Swiss-Prot |
PharmGKB | PA162387040 | PharmGKB |
UniGene | Hs.98959 | ENTREZGENE |
UniProt | A0A087WXD4_HUMAN | UniProtKB/TrEMBL |
A8MTA8 | ENTREZGENE | |
B7ZW26 | ENTREZGENE, UniProtKB/TrEMBL | |
B7ZW33 | ENTREZGENE, UniProtKB/TrEMBL | |
F166B_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A1L3B2 | UniProtKB/Swiss-Prot |
B7ZBJ0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | FAM166B | family with sequence similarity 166 member B | family with sequence similarity 166, member B | Symbol and/or name change | 5135510 | APPROVED |
![]() |
More on FAM166B | |
![]() |
Alliance Gene |
![]() |
NCBI Gene |
![]() |
Ensembl Gene |
![]() |
JBrowse: hg19 hg38 |
![]() |
HGNC Report |
![]() |
NCBI Genome Data Viewer |
RGD Object Information | |
RGD ID: | 2293907 |
Created: | 2008-06-20 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
![]() |
![]() |
![]() |
![]() |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.