FAM214B (family with sequence similarity 214 member B) - Rat Genome Database
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Gene: FAM214B (family with sequence similarity 214 member B) Homo sapiens
Analyze
Symbol: FAM214B
Name: family with sequence similarity 214 member B
RGD ID: 1322605
Description: Localizes to nucleus; INTERACTS WITH 15-acetyldeoxynivalenol; 17beta-estradiol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bA182N22.6; family with sequence similarity 214, member B; FLJ11560; hypothetical protein LOC80256; KIAA1539; P1.11659_5; RP11-182N22.6; uncharacterized protein KIAA1539
Orthologs:
Mus musculus (house mouse) : Fam214b (family with sequence similarity 214, member B)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fam214b (family with sequence similarity 214, member B)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fam214b (family with sequence similarity 214 member B)
Pan paniscus (bonobo/pygmy chimpanzee) : FAM214B (family with sequence similarity 214 member B)
Canis lupus familiaris (dog) : FAM214B (family with sequence similarity 214 member B)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fam214b (family with sequence similarity 214 member B)
Sus scrofa (pig) : FAM214B (family with sequence similarity 214 member B)
Chlorocebus sabaeus (African green monkey) : FAM214B (family with sequence similarity 214 member B)
Heterocephalus glaber (naked mole-rat) : Fam214b (family with sequence similarity 214 member B)
more info ...
Related Pseudogenes: FAM214BP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,104,112 - 35,116,341 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,104,117 - 35,116,341 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,104,118 - 35,116,338 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,094,118 - 35,105,893 (-)NCBINCBI36hg18NCBI36
Build 34935,094,119 - 35,105,893NCBI
Celera935,036,093 - 35,047,864 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,059,587 - 35,071,369 (-)NCBIHuRef
CHM1_1935,103,979 - 35,115,841 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:10819331   PMID:11076863   PMID:11230166   PMID:11256614   PMID:14702039   PMID:15489336   PMID:16189514   PMID:16344560   PMID:16381901   PMID:21516116   PMID:21832049   PMID:25416956  
PMID:27107014   PMID:29892012   PMID:30021884   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
FAM214B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,104,112 - 35,116,341 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,104,117 - 35,116,341 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,104,118 - 35,116,338 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,094,118 - 35,105,893 (-)NCBINCBI36hg18NCBI36
Build 34935,094,119 - 35,105,893NCBI
Celera935,036,093 - 35,047,864 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,059,587 - 35,071,369 (-)NCBIHuRef
CHM1_1935,103,979 - 35,115,841 (-)NCBICHM1_1
Fam214b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,032,414 - 43,046,220 (-)NCBI
GRCm38443,032,414 - 43,046,220 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,032,414 - 43,046,220 (-)EnsemblGRCm38mm10GRCm38
MGSCv37443,045,382 - 43,059,075 (-)NCBIGRCm37mm9NCBIm37
MGSCv36443,053,610 - 43,067,303 (-)NCBImm8
Celera443,062,569 - 43,076,324 (-)NCBICelera
Cytogenetic Map4A5NCBI
Fam214b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0558,477,894 - 58,484,900 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,477,894 - 58,484,900 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,003,430 - 63,010,436 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,523,800 - 59,530,806 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,523,978 - 59,530,985 (-)NCBI
Celera555,850,317 - 55,857,270 (-)NCBICelera
Cytogenetic Map5q22NCBI
Fam214b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,071,615 - 1,077,960 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,066,661 - 1,077,960 (+)NCBIChiLan1.0ChiLan1.0
FAM214B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1935,760,019 - 35,772,033 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,760,019 - 35,771,911 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0934,954,618 - 34,966,860 (-)NCBIMhudiblu_PPA_v0panPan3
FAM214B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1151,681,329 - 51,683,969 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11151,680,308 - 51,692,340 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Fam214b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365243,133,288 - 3,144,726 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM214B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,895,621 - 235,907,110 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,895,613 - 235,907,142 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21263,421,079 - 263,432,942 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM214B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1245,505,278 - 45,512,759 (+)Ensembl
ChlSab1.11245,500,473 - 45,512,647 (+)NCBI
Fam214b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624915299,408 - 327,330 (-)NCBI

Position Markers
RH78365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,104,254 - 35,104,373UniSTSGRCh37
GRCh373113,949,286 - 113,949,405UniSTSGRCh37
Build 363115,431,976 - 115,432,095RGDNCBI36
Celera935,036,229 - 35,036,348UniSTS
Celera3112,357,289 - 112,357,408RGD
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,059,723 - 35,059,842UniSTS
HuRef3111,322,932 - 111,323,051UniSTS
GeneMap99-GB4 RH Map9137.71UniSTS
NCBI RH Map9447.9UniSTS
G20553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,949,208 - 113,949,367UniSTSGRCh37
GRCh37935,104,166 - 35,104,335UniSTSGRCh37
Build 363115,431,898 - 115,432,057RGDNCBI36
Celera3112,357,211 - 112,357,370RGD
Celera935,036,141 - 35,036,310UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p13.1UniSTS
HuRef3111,322,854 - 111,323,013UniSTS
HuRef935,059,635 - 35,059,804UniSTS
A005W26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,104,166 - 35,104,335UniSTSGRCh37
GRCh373113,949,208 - 113,949,367UniSTSGRCh37
Build 363115,431,898 - 115,432,057RGDNCBI36
Celera935,036,141 - 35,036,310UniSTS
Celera3112,357,211 - 112,357,370RGD
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,059,635 - 35,059,804UniSTS
HuRef3111,322,854 - 111,323,013UniSTS
GeneMap99-GB4 RH Map9153.95UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5642
Count of miRNA genes:830
Interacting mature miRNAs:1016
Transcripts:ENST00000322813, ENST00000378554, ENST00000378557, ENST00000378561, ENST00000378566, ENST00000488109, ENST00000603301, ENST00000605104, ENST00000605244, ENST00000605392
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1204 2140 975 83 1093 44 2625 689 2233 180 710 1279 47 670 1699 1
Low 1233 849 751 539 856 421 1730 1508 1501 239 747 333 126 1 534 1089 4
Below cutoff 1 1 2 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL598661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX882323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA804086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322813   ⟹   ENSP00000319897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,121 - 35,115,896 (-)Ensembl
RefSeq Acc Id: ENST00000378557   ⟹   ENSP00000367819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,142 - 35,111,423 (-)Ensembl
RefSeq Acc Id: ENST00000378561   ⟹   ENSP00000367823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,123 - 35,111,574 (-)Ensembl
RefSeq Acc Id: ENST00000378566   ⟹   ENSP00000367829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,112 - 35,115,850 (-)Ensembl
RefSeq Acc Id: ENST00000488109   ⟹   ENSP00000475120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,121 - 35,112,392 (-)Ensembl
RefSeq Acc Id: ENST00000603301   ⟹   ENSP00000474335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,121 - 35,111,588 (-)Ensembl
RefSeq Acc Id: ENST00000605104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,108,235 - 35,115,862 (-)Ensembl
RefSeq Acc Id: ENST00000605244   ⟹   ENSP00000474833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,104,121 - 35,116,341 (-)Ensembl
RefSeq Acc Id: ENST00000605392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,108,345 - 35,115,862 (-)Ensembl
RefSeq Acc Id: NM_001317991   ⟹   NP_001304920
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,117 - 35,111,452 (-)NCBI
CHM1_1935,103,979 - 35,111,233 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025182   ⟹   NP_079458
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,117 - 35,115,862 (-)NCBI
GRCh37935,104,118 - 35,116,338 (-)NCBI
Build 36935,094,118 - 35,105,893 (-)NCBI Archive
Celera935,036,093 - 35,047,864 (-)RGD
HuRef935,059,587 - 35,071,369 (-)ENTREZGENE
CHM1_1935,103,979 - 35,115,780 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134455
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,117 - 35,115,862 (-)NCBI
CHM1_1935,103,979 - 35,115,841 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251588   ⟹   XP_005251645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,121 - 35,115,911 (-)NCBI
GRCh37935,104,118 - 35,116,338 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251590   ⟹   XP_005251647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,121 - 35,111,610 (-)NCBI
GRCh37935,104,118 - 35,116,338 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251591   ⟹   XP_005251648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,121 - 35,116,341 (-)NCBI
GRCh37935,104,118 - 35,116,338 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518037   ⟹   XP_011516339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,121 - 35,112,392 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447689   ⟹   XP_024303457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,104,121 - 35,116,093 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079458   ⟸   NM_025182
- UniProtKB: Q7L5A3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251648   ⟸   XM_005251591
- Peptide Label: isoform X1
- UniProtKB: Q7L5A3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251645   ⟸   XM_005251588
- Peptide Label: isoform X1
- UniProtKB: Q7L5A3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251647   ⟸   XM_005251590
- Peptide Label: isoform X1
- UniProtKB: Q7L5A3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516339   ⟸   XM_011518037
- Peptide Label: isoform X1
- UniProtKB: Q7L5A3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304920   ⟸   NM_001317991
- UniProtKB: Q7L5A3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303457   ⟸   XM_024447689
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000319897   ⟸   ENST00000322813
RefSeq Acc Id: ENSP00000367823   ⟸   ENST00000378561
RefSeq Acc Id: ENSP00000367829   ⟸   ENST00000378566
RefSeq Acc Id: ENSP00000367819   ⟸   ENST00000378557
RefSeq Acc Id: ENSP00000474335   ⟸   ENST00000603301
RefSeq Acc Id: ENSP00000474833   ⟸   ENST00000605244
RefSeq Acc Id: ENSP00000475120   ⟸   ENST00000488109

Promoters
RGD ID:6807843
Promoter ID:HG_KWN:63063
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355521,   OTTHUMT00000207591,   UC003ZWL.1,   UC003ZWM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,099,406 - 35,101,817 (-)MPROMDB
RGD ID:6807844
Promoter ID:HG_KWN:63064
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378554,   ENST00000408010,   NM_025182,   OTTHUMT00000052266,   UC003ZWN.1,   UC003ZWP.1,   UC010MKK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,105,756 - 35,106,607 (-)MPROMDB
RGD ID:7214983
Promoter ID:EPDNEW_H13237
Type:initiation region
Name:FAM214B_2
Description:family with sequence similarity 214 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13238  EPDNEW_H13239  EPDNEW_H13240  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,111,452 - 35,111,512EPDNEW
RGD ID:7214985
Promoter ID:EPDNEW_H13238
Type:initiation region
Name:FAM214B_4
Description:family with sequence similarity 214 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13237  EPDNEW_H13239  EPDNEW_H13240  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,111,585 - 35,111,645EPDNEW
RGD ID:7214987
Promoter ID:EPDNEW_H13239
Type:initiation region
Name:FAM214B_3
Description:family with sequence similarity 214 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13237  EPDNEW_H13238  EPDNEW_H13240  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,112,392 - 35,112,452EPDNEW
RGD ID:7214989
Promoter ID:EPDNEW_H13240
Type:initiation region
Name:FAM214B_1
Description:family with sequence similarity 214 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13237  EPDNEW_H13238  EPDNEW_H13239  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,115,850 - 35,115,910EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain 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 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 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(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain 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
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) 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-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 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 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
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely 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 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
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-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
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
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-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
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
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-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25666 AgrOrtholog
COSMIC FAM214B COSMIC
Ensembl Genes ENSG00000005238 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000319897 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367819 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367823 UniProtKB/Swiss-Prot
  ENSP00000367829 UniProtKB/Swiss-Prot
  ENSP00000474335 UniProtKB/Swiss-Prot
  ENSP00000474833 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475120 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322813 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378557 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378561 UniProtKB/Swiss-Prot
  ENST00000378566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000488109 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000603301 UniProtKB/Swiss-Prot
  ENST00000605244 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000005238 GTEx
HGNC ID HGNC:25666 ENTREZGENE
Human Proteome Map FAM214B Human Proteome Map
InterPro DUF4210 UniProtKB/Swiss-Prot
  FAM214/SPAC3H8.04_C UniProtKB/Swiss-Prot
KEGG Report hsa:80256 UniProtKB/Swiss-Prot
NCBI Gene 80256 ENTREZGENE
Pfam Chromosome_seg UniProtKB/Swiss-Prot
  DUF4210 UniProtKB/Swiss-Prot
PharmGKB PA134880815 PharmGKB
SMART DUF4210 UniProtKB/Swiss-Prot
UniGene Hs.301696 ENTREZGENE
UniProt F214B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B1AML4 UniProtKB/Swiss-Prot
  B1AML5 UniProtKB/Swiss-Prot
  D3DRN5 UniProtKB/Swiss-Prot
  O60377 UniProtKB/Swiss-Prot
  Q9BQ60 UniProtKB/Swiss-Prot
  Q9HAI9 UniProtKB/Swiss-Prot
  Q9P1Y9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM214B  family with sequence similarity 214 member B    family with sequence similarity 214, member B  Symbol and/or name change 5135510 APPROVED
2011-12-06 FAM214B  family with sequence similarity 214, member B  KIAA1539  KIAA1539  Symbol and/or name change 5135510 APPROVED