FAM135B (family with sequence similarity 135 member B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: FAM135B (family with sequence similarity 135 member B) Homo sapiens
Analyze
Symbol: FAM135B
Name: family with sequence similarity 135 member B
RGD ID: 1606292
HGNC Page HGNC
Description: Predicted to be involved in cellular lipid metabolic process; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; disodium selenite.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8ORFK32; family with sequence similarity 135, member B; hypothetical protein LOC51059; MGC126009; MGC126010; MGC33221
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8138,130,023 - 138,497,261 (-)EnsemblGRCh38hg38GRCh38
GRCh388138,130,023 - 138,497,730 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378139,142,266 - 139,509,973 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368139,211,448 - 139,578,247 (-)NCBINCBI36hg18NCBI36
Celera8135,311,551 - 135,677,962 (-)NCBI
Cytogenetic Map8q24.23NCBI
HuRef8134,457,070 - 134,694,745 (-)NCBIHuRef
CHM1_18139,182,500 - 139,549,298 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12477932   PMID:14702039   PMID:16169070   PMID:20125193   PMID:21873635   PMID:22228203   PMID:24024966   PMID:24705354   PMID:26186194   PMID:28514442  
PMID:30391288   PMID:33340561  


Genomics

Comparative Map Data
FAM135B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8138,130,023 - 138,497,261 (-)EnsemblGRCh38hg38GRCh38
GRCh388138,130,023 - 138,497,730 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378139,142,266 - 139,509,973 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368139,211,448 - 139,578,247 (-)NCBINCBI36hg18NCBI36
Celera8135,311,551 - 135,677,962 (-)NCBI
Cytogenetic Map8q24.23NCBI
HuRef8134,457,070 - 134,694,745 (-)NCBIHuRef
CHM1_18139,182,500 - 139,549,298 (-)NCBICHM1_1
Fam135b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391571,310,800 - 71,600,282 (-)NCBIGRCm39mm39
GRCm39 Ensembl1571,303,458 - 71,599,687 (-)Ensembl
GRCm381571,438,951 - 71,728,434 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1571,431,609 - 71,727,838 (-)EnsemblGRCm38mm10GRCm38
MGSCv371571,276,108 - 71,558,268 (-)NCBIGRCm37mm9NCBIm37
MGSCv361571,275,345 - 71,292,069 (-)NCBImm8
Celera1572,954,768 - 73,229,981 (-)NCBICelera
Cytogenetic Map15D3NCBI
Fam135b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27103,380,981 - 103,649,802 (-)NCBI
Rnor_6.0 Ensembl7112,673,465 - 112,833,083 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07112,672,511 - 112,937,776 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07112,604,194 - 112,872,626 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47109,158,450 - 109,318,691 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17109,192,677 - 109,352,921 (-)NCBI
Celera799,808,757 - 100,067,135 (-)NCBICelera
Cytogenetic Map7q34NCBI
Fam135b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546112,205,951 - 12,504,241 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546112,205,524 - 12,503,794 (-)NCBIChiLan1.0ChiLan1.0
FAM135B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18137,847,187 - 138,247,423 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8137,847,187 - 138,087,912 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08134,778,834 - 135,151,281 (-)NCBIMhudiblu_PPA_v0panPan3
FAM135B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11333,400,850 - 33,579,223 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1333,403,397 - 33,579,220 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1333,379,377 - 33,656,866 (-)NCBI
ROS_Cfam_1.01333,774,452 - 34,054,746 (-)NCBI
UMICH_Zoey_3.11333,500,101 - 33,777,633 (-)NCBI
UNSW_CanFamBas_1.01333,589,628 - 33,867,323 (-)NCBI
UU_Cfam_GSD_1.01333,994,553 - 34,272,205 (-)NCBI
Fam135b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053034,633,364 - 4,928,788 (+)NCBI
SpeTri2.0NW_00493647012,059,465 - 12,354,887 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM135B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl44,373,944 - 4,658,020 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.144,373,945 - 4,663,259 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.244,164,793 - 4,341,327 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAM135B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18132,404,424 - 132,759,423 (-)NCBI
ChlSab1.1 Ensembl8132,406,992 - 132,758,579 (-)Ensembl
Fam135b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473517,721,605 - 18,047,892 (+)NCBI

Position Markers
D11S1346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,959,374 - 10,959,638UniSTSGRCh37
Build 361110,915,950 - 10,916,214RGDNCBI36
Celera1111,081,021 - 11,081,285RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,593,525 - 134,595,168UniSTS
HuRef1110,632,274 - 10,632,538UniSTS
Marshfield Genetic Map1117.19UniSTS
Marshfield Genetic Map1117.19RGD
Genethon Genetic Map1119.5UniSTS
deCODE Assembly Map1117.52UniSTS
Whitehead-YAC Contig Map11 UniSTS
D8S1837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,232,149 - 139,232,387UniSTSGRCh37
Build 368139,301,331 - 139,301,569RGDNCBI36
Celera8135,400,814 - 135,401,060RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,546,729 - 134,546,979UniSTS
Marshfield Genetic Map8156.59RGD
Marshfield Genetic Map8156.59UniSTS
Genethon Genetic Map8155.5UniSTS
deCODE Assembly Map8152.44UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,183,666 - 139,183,869UniSTSGRCh37
Build 368139,252,848 - 139,253,051RGDNCBI36
Celera8135,352,937 - 135,353,140RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,498,458 - 134,498,661UniSTS
Whitehead-RH Map8698.5UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,228,218 - 139,228,452UniSTSGRCh37
Build 368139,297,400 - 139,297,634RGDNCBI36
Celera8135,396,894 - 135,397,128RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,542,799 - 134,543,033UniSTS
Whitehead-RH Map8693.6UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,172,549 - 139,172,758UniSTSGRCh37
Build 368139,241,731 - 139,241,940RGDNCBI36
Celera8135,341,826 - 135,342,035RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,487,345 - 134,487,554UniSTS
WI-14780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,142,278 - 139,142,427UniSTSGRCh37
Build 368139,211,460 - 139,211,609RGDNCBI36
Celera8135,311,563 - 135,311,712RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,457,082 - 134,457,231UniSTS
GeneMap99-GB4 RH Map8532.59UniSTS
Whitehead-RH Map8694.6UniSTS
RH92137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,320,151 - 139,320,291UniSTSGRCh37
Build 368139,389,333 - 139,389,473RGDNCBI36
Celera8135,488,768 - 135,488,908RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,634,717 - 134,634,857UniSTS
GeneMap99-GB4 RH Map8532.7UniSTS
RH102297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,144,782 - 139,144,941UniSTSGRCh37
Build 368139,213,964 - 139,214,123RGDNCBI36
Celera8135,314,067 - 135,314,226RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,459,586 - 134,459,745UniSTS
GeneMap99-GB4 RH Map8533.31UniSTS
RH122444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,476,274 - 139,476,617UniSTSGRCh37
Build 368139,545,456 - 139,545,799RGDNCBI36
Celera8135,645,170 - 135,645,513RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,790,726 - 134,791,069UniSTS
TNG Radiation Hybrid Map868762.0UniSTS
G60072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,228,218 - 139,228,450UniSTSGRCh37
Build 368139,297,400 - 139,297,632RGDNCBI36
Celera8135,396,894 - 135,397,126RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,542,799 - 134,543,031UniSTS
TNG Radiation Hybrid Map868705.0UniSTS
G60352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,232,145 - 139,232,463UniSTSGRCh37
Build 368139,301,327 - 139,301,645RGDNCBI36
Celera8135,400,810 - 135,401,136RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,546,725 - 134,547,055UniSTS
TNG Radiation Hybrid Map868705.0UniSTS
TNG Radiation Hybrid Map1019365.0UniSTS
A008Z29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,143,495 - 139,143,612UniSTSGRCh37
Build 368139,212,677 - 139,212,794RGDNCBI36
Celera8135,312,780 - 135,312,897RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,458,299 - 134,458,416UniSTS
GeneMap99-GB4 RH Map8533.41UniSTS
SHGC-153545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,427,329 - 139,427,676UniSTSGRCh37
Build 368139,496,511 - 139,496,858RGDNCBI36
Celera8135,596,252 - 135,596,599RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,741,808 - 134,742,155UniSTS
TNG Radiation Hybrid Map868740.0UniSTS
AFM316xb1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,248,553 - 139,248,715UniSTSGRCh37
Build 368139,317,735 - 139,317,897RGDNCBI36
Celera8135,417,222 - 135,417,384RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,563,145 - 134,563,303UniSTS
Whitehead-RH Map8696.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
GAAT-P33065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,359,222 - 139,359,415UniSTSGRCh37
Build 368139,428,404 - 139,428,597RGDNCBI36
Celera8135,528,151 - 135,528,344RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,673,713 - 134,673,906UniSTS
Whitehead-RH Map8693.8UniSTS
Whitehead-YAC Contig Map8 UniSTS
UniSTS:43709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,380,062 - 139,380,175UniSTSGRCh37
Build 368139,449,244 - 139,449,357RGDNCBI36
Celera8135,548,991 - 135,549,104RGD
HuRef8134,694,559 - 134,694,672UniSTS
SGC33004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,204,558 - 139,204,707UniSTSGRCh37
Build 368139,273,740 - 139,273,889RGDNCBI36
Celera8135,373,835 - 135,373,984RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,519,357 - 134,519,506UniSTS
TNG Radiation Hybrid Map868691.0UniSTS
GeneMap99-GB4 RH Map8533.41UniSTS
Whitehead-RH Map8698.5UniSTS
RH11902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,155,149 - 139,155,351UniSTSGRCh37
Build 368139,224,331 - 139,224,533RGDNCBI36
Celera8135,324,426 - 135,324,628RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,469,945 - 134,470,147UniSTS
GeneMap99-GB4 RH Map8533.2UniSTS
NCBI RH Map81536.3UniSTS
WI-16113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,239,989 - 139,240,138UniSTSGRCh37
Build 368139,309,171 - 139,309,320RGDNCBI36
Celera8135,408,659 - 135,408,808RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,554,577 - 134,554,726UniSTS
GeneMap99-GB4 RH Map8532.99UniSTS
Whitehead-RH Map8694.2UniSTS
NCBI RH Map81578.4UniSTS
RH16518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,204,424 - 139,204,550UniSTSGRCh37
Build 368139,273,606 - 139,273,732RGDNCBI36
Celera8135,373,701 - 135,373,827RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,519,223 - 134,519,349UniSTS
GeneMap99-GB4 RH Map8532.66UniSTS
NCBI RH Map81541.0UniSTS
CHLC.GAAT11A02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378139,359,245 - 139,359,414UniSTSGRCh37
Build 368139,428,427 - 139,428,596RGDNCBI36
Celera8135,528,174 - 135,528,343RGD
Cytogenetic Map8q24.23UniSTS
HuRef8134,673,736 - 134,673,905UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4293
Count of miRNA genes:1349
Interacting mature miRNAs:1766
Transcripts:ENST00000160713, ENST00000276737, ENST00000395295, ENST00000395297, ENST00000467365, ENST00000482951, ENST00000517849, ENST00000520283, ENST00000520380, ENST00000520954, ENST00000523049
Prediction methods:Microtar, 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
High
Medium 2 2 1 61 136 1
Low 826 7 487 15 40 15 423 408 3016 76 325 42 1 48 359
Below cutoff 1427 2122 1021 463 745 305 3453 1610 594 206 723 1156 159 1 1086 2212

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001362965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB196635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX110118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H05729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000160713   ⟹   ENSP00000160713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,250,924 - 138,425,515 (-)Ensembl
RefSeq Acc Id: ENST00000276737   ⟹   ENSP00000276737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,132,593 - 138,496,822 (-)Ensembl
RefSeq Acc Id: ENST00000395295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,143,022 - 138,148,835 (-)Ensembl
RefSeq Acc Id: ENST00000395297   ⟹   ENSP00000378710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,130,023 - 138,497,261 (-)Ensembl
RefSeq Acc Id: ENST00000467365   ⟹   ENSP00000430088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,142,860 - 138,152,404 (-)Ensembl
RefSeq Acc Id: ENST00000482951   ⟹   ENSP00000429874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,132,282 - 138,477,421 (-)Ensembl
RefSeq Acc Id: ENST00000517849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,265,819 - 138,477,440 (-)Ensembl
RefSeq Acc Id: ENST00000520283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,436,858 - 138,477,456 (-)Ensembl
RefSeq Acc Id: ENST00000520380   ⟹   ENSP00000428017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,308,984 - 138,459,565 (-)Ensembl
RefSeq Acc Id: ENST00000520954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,436,856 - 138,477,404 (-)Ensembl
RefSeq Acc Id: ENST00000523049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8138,450,497 - 138,477,428 (-)Ensembl
RefSeq Acc Id: NM_001362965   ⟹   NP_001349894
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,023 - 138,497,730 (-)NCBI
RefSeq Acc Id: NM_015912   ⟹   NP_056996
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,023 - 138,497,261 (-)NCBI
GRCh378139,142,266 - 139,509,065 (-)RGD
Build 368139,211,448 - 139,578,247 (-)NCBI Archive
Celera8135,311,551 - 135,677,962 (-)RGD
HuRef8134,457,070 - 134,694,745 (-)ENTREZGENE
CHM1_18139,182,500 - 139,549,298 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517056   ⟹   XP_011515358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517058   ⟹   XP_011515360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517059   ⟹   XP_011515361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,425,515 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517060   ⟹   XP_011515362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517061   ⟹   XP_011515363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,496,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517062   ⟹   XP_011515364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,496,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517063   ⟹   XP_011515365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517064   ⟹   XP_011515366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,128 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517065   ⟹   XP_011515367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,367,995 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517068   ⟹   XP_011515370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,367,976 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517069   ⟹   XP_011515371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,244,035 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517070   ⟹   XP_011515372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,141,268 - 138,478,133 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517072   ⟹   XP_011515374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,217,774 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517073   ⟹   XP_011515375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,198,481 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517074   ⟹   XP_011515376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,197,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013471   ⟹   XP_016868960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,129 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745531
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,131 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745532
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,130,127 - 138,478,132 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001349894 (Get FASTA)   NCBI Sequence Viewer  
  NP_056996 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515358 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515360 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515361 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515362 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515363 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515364 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515365 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515366 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515367 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515370 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515371 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515372 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515374 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515375 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515376 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868960 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD20030 (Get FASTA)   NCBI Sequence Viewer  
  AAH37288 (Get FASTA)   NCBI Sequence Viewer  
  AAI06913 (Get FASTA)   NCBI Sequence Viewer  
  AAI06914 (Get FASTA)   NCBI Sequence Viewer  
  BAE53437 (Get FASTA)   NCBI Sequence Viewer  
  CAG33428 (Get FASTA)   NCBI Sequence Viewer  
  EAW92189 (Get FASTA)   NCBI Sequence Viewer  
  EAW92190 (Get FASTA)   NCBI Sequence Viewer  
  EAW92191 (Get FASTA)   NCBI Sequence Viewer  
  Q49AJ0 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_056996   ⟸   NM_015912
- UniProtKB: Q49AJ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515364   ⟸   XM_011517062
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515363   ⟸   XM_011517061
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515365   ⟸   XM_011517063
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515362   ⟸   XM_011517060
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515360   ⟸   XM_011517058
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515366   ⟸   XM_011517064
- Peptide Label: isoform X2
- UniProtKB: Q49AJ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515358   ⟸   XM_011517056
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515361   ⟸   XM_011517059
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515367   ⟸   XM_011517065
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515370   ⟸   XM_011517068
- Peptide Label: isoform X5
- UniProtKB: Q49AJ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515371   ⟸   XM_011517069
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515374   ⟸   XM_011517072
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011515375   ⟸   XM_011517073
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011515376   ⟸   XM_011517074
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011515372   ⟸   XM_011517070
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016868960   ⟸   XM_017013471
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001349894   ⟸   NM_001362965
RefSeq Acc Id: ENSP00000160713   ⟸   ENST00000160713
RefSeq Acc Id: ENSP00000430088   ⟸   ENST00000467365
RefSeq Acc Id: ENSP00000428017   ⟸   ENST00000520380
RefSeq Acc Id: ENSP00000429874   ⟸   ENST00000482951
RefSeq Acc Id: ENSP00000276737   ⟸   ENST00000276737
RefSeq Acc Id: ENSP00000378710   ⟸   ENST00000395297

Promoters
RGD ID:7214237
Promoter ID:EPDNEW_H12864
Type:multiple initiation site
Name:FAM135B_3
Description:family with sequence similarity 135 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12865  EPDNEW_H12866  EPDNEW_H12867  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,432,851 - 138,432,911EPDNEW
RGD ID:7214239
Promoter ID:EPDNEW_H12865
Type:initiation region
Name:FAM135B_4
Description:family with sequence similarity 135 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12864  EPDNEW_H12866  EPDNEW_H12867  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,477,428 - 138,477,488EPDNEW
RGD ID:7214241
Promoter ID:EPDNEW_H12866
Type:initiation region
Name:FAM135B_2
Description:family with sequence similarity 135 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12864  EPDNEW_H12865  EPDNEW_H12867  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,496,845 - 138,496,905EPDNEW
RGD ID:7214243
Promoter ID:EPDNEW_H12867
Type:initiation region
Name:FAM135B_1
Description:family with sequence similarity 135 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12864  EPDNEW_H12865  EPDNEW_H12866  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388138,497,261 - 138,497,321EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_015912.3(FAM135B):c.3624C>T (p.Ser1208=) single nucleotide variant Malignant melanoma [RCV000068163] Chr8:138143026 [GRCh38]
Chr8:139155269 [GRCh37]
Chr8:139224451 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.3487G>A (p.Glu1163Lys) single nucleotide variant Malignant melanoma [RCV000068164] Chr8:138146012 [GRCh38]
Chr8:139158255 [GRCh37]
Chr8:139227437 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.3378C>T (p.Phe1126=) single nucleotide variant Malignant melanoma [RCV000068165] Chr8:138148590 [GRCh38]
Chr8:139160833 [GRCh37]
Chr8:139230015 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.2543C>T (p.Pro848Leu) single nucleotide variant Malignant melanoma [RCV000068166] Chr8:138151932 [GRCh38]
Chr8:139164175 [GRCh37]
Chr8:139233357 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.540C>T (p.Ile180=) single nucleotide variant Malignant melanoma [RCV000068167] Chr8:138250843 [GRCh38]
Chr8:139263086 [GRCh37]
Chr8:139332268 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.3498C>T (p.Leu1166=) single nucleotide variant Malignant melanoma [RCV000061760] Chr8:138146001 [GRCh38]
Chr8:139158244 [GRCh37]
Chr8:139227426 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.2716G>A (p.Gly906Ser) single nucleotide variant Malignant melanoma [RCV000061761] Chr8:138151759 [GRCh38]
Chr8:139164002 [GRCh37]
Chr8:139233184 [NCBI36]
Chr8:8q24.23
not provided
NM_015912.3(FAM135B):c.1104-3579T>C single nucleotide variant Lung cancer [RCV000107163] Chr8:138171628 [GRCh38]
Chr8:139183871 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.873+7032G>T single nucleotide variant Lung cancer [RCV000107164] Chr8:138188226 [GRCh38]
Chr8:139200469 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.670-4311A>T single nucleotide variant Lung cancer [RCV000107165] Chr8:138201980 [GRCh38]
Chr8:139214223 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.670-13412C>A single nucleotide variant Lung cancer [RCV000107166] Chr8:138211081 [GRCh38]
Chr8:139223324 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.369-1380T>C single nucleotide variant Lung cancer [RCV000107167] Chr8:138252394 [GRCh38]
Chr8:139264637 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.298-2842C>A single nucleotide variant Lung cancer [RCV000107168] Chr8:138259601 [GRCh38]
Chr8:139271844 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.158-7793A>T single nucleotide variant Lung cancer [RCV000107169] Chr8:138273635 [GRCh38]
Chr8:139285878 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.158-17948G>A single nucleotide variant Lung cancer [RCV000107170] Chr8:138283790 [GRCh38]
Chr8:139296033 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.157+21225T>A single nucleotide variant Lung cancer [RCV000107171] Chr8:138289616 [GRCh38]
Chr8:139301859 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.-19-6639C>A single nucleotide variant Lung cancer [RCV000107173] Chr8:138374641 [GRCh38]
Chr8:139386884 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_015912.3(FAM135B):c.-19-61173C>A single nucleotide variant Lung cancer [RCV000107174] Chr8:138429175 [GRCh38]
Chr8:139441418 [GRCh37]
Chr8:8q24.23
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.23(chr8:139253063-139882428)x3 copy number gain See cases [RCV000510656] Chr8:139253063..139882428 [GRCh37]
Chr8:8q24.23
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8q24.23(chr8:139297034-139897291)x3 copy number gain See cases [RCV000510802] Chr8:139297034..139897291 [GRCh37]
Chr8:8q24.23
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.23(chr8:139253063-139881535)x3 copy number gain not provided [RCV000682990] Chr8:139253063..139881535 [GRCh37]
Chr8:8q24.23
uncertain significance
GRCh37/hg19 8q24.23(chr8:139140569-139344142)x3 copy number gain not provided [RCV000682942] Chr8:139140569..139344142 [GRCh37]
Chr8:8q24.23
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8q24.23(chr8:138788813-139253805)x3 copy number gain not provided [RCV000747883] Chr8:138788813..139253805 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_015912.4(FAM135B):c.873+10G>A single nucleotide variant not provided [RCV000963063] Chr8:138195248 [GRCh38]
Chr8:139207491 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_015912.4(FAM135B):c.1158T>C (p.Thr386=) single nucleotide variant not provided [RCV000947137] Chr8:138167995 [GRCh38]
Chr8:139180238 [GRCh37]
Chr8:8q24.23
benign
NM_015912.4(FAM135B):c.1762G>A (p.Asp588Asn) single nucleotide variant not provided [RCV000963914] Chr8:138152713 [GRCh38]
Chr8:139164956 [GRCh37]
Chr8:8q24.23
benign
NM_015912.4(FAM135B):c.3424G>A (p.Val1142Ile) single nucleotide variant not provided [RCV000891517] Chr8:138148544 [GRCh38]
Chr8:139160787 [GRCh37]
Chr8:8q24.23
benign
NM_015912.4(FAM135B):c.1733G>A (p.Ser578Asn) single nucleotide variant not provided [RCV000891518] Chr8:138152742 [GRCh38]
Chr8:139164985 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23(chr8:138243362-139543690)x3 copy number gain not provided [RCV001259032] Chr8:138243362..139543690 [GRCh37]
Chr8:8q24.23
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139203019-140284954)x3 copy number gain not provided [RCV001259033] Chr8:139203019..140284954 [GRCh37]
Chr8:8q24.23-24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28029 AgrOrtholog
COSMIC FAM135B COSMIC
Ensembl Genes ENSG00000147724 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000160713 UniProtKB/TrEMBL
  ENSP00000276737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378710 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428017 UniProtKB/TrEMBL
  ENSP00000429874 UniProtKB/TrEMBL
  ENSP00000430088 UniProtKB/TrEMBL
Ensembl Transcript ENST00000160713 UniProtKB/TrEMBL
  ENST00000276737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395297 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000467365 UniProtKB/TrEMBL
  ENST00000482951 UniProtKB/TrEMBL
  ENST00000520380 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot
GTEx ENSG00000147724 GTEx
HGNC ID HGNC:28029 ENTREZGENE
Human Proteome Map FAM135B Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot
  DUF3657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF676_lipase-like UniProtKB/Swiss-Prot
  Lipase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51059 UniProtKB/Swiss-Prot
NCBI Gene 51059 ENTREZGENE
PANTHER PTHR12482 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF676 UniProtKB/Swiss-Prot
PharmGKB PA162386277 PharmGKB
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot
UniProt E5RFQ7_HUMAN UniProtKB/TrEMBL
  E5RH68_HUMAN UniProtKB/TrEMBL
  F135B_HUMAN UniProtKB/Swiss-Prot
  H0YBQ7_HUMAN UniProtKB/TrEMBL
  J3QSR3_HUMAN UniProtKB/TrEMBL
  Q49AJ0 ENTREZGENE
UniProt Secondary B5MDB3 UniProtKB/Swiss-Prot
  O95879 UniProtKB/Swiss-Prot
  Q2WGJ7 UniProtKB/Swiss-Prot
  Q3KP46 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM135B  family with sequence similarity 135 member B    family with sequence similarity 135, member B  Symbol and/or name change 5135510 APPROVED