TNFRSF13C (TNF receptor superfamily member 13C) - Rat Genome Database

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Gene: TNFRSF13C (TNF receptor superfamily member 13C) Homo sapiens
Analyze
Symbol: TNFRSF13C
Name: TNF receptor superfamily member 13C
RGD ID: 1354073
HGNC Page HGNC
Description: Predicted to enable signaling receptor activity. Predicted to be involved in positive regulation of lymphocyte activation. Predicted to act upstream of or within B cell homeostasis; positive regulation of germinal center formation; and positive regulation of interferon-gamma production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Implicated in common variable immunodeficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B cell-activating factor receptor; B-cell-activating factor receptor; BAFF receptor; BAFF-R; BAFFR; BLyS receptor 3; BROMIX; CD268; CVID4; MGC138235; prolixin; tumor necrosis factor receptor superfamily member 13C; tumor necrosis factor receptor superfamily, member 13C
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 Ensembl2241,922,032 - 41,926,806 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,922,032 - 41,926,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,318,036 - 42,322,810 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,650,982 - 40,652,728 (-)NCBINCBI36hg18NCBI36
Build 342240,645,535 - 40,647,282NCBI
Celera2226,127,271 - 26,129,056 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,286,634 - 25,288,419 (-)NCBIHuRef
CHM1_12242,281,235 - 42,283,020 (-)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10359578   PMID:11076863   PMID:11509692   PMID:11591325   PMID:11747837   PMID:11869903   PMID:12374279   PMID:12456020   PMID:12471121   PMID:12477932   PMID:12715002   PMID:12721620  
PMID:12755599   PMID:14512299   PMID:15485634   PMID:15585864   PMID:15644327   PMID:16160919   PMID:16226112   PMID:16320342   PMID:16769579   PMID:16840730   PMID:16914324   PMID:16919470  
PMID:16931038   PMID:16931039   PMID:17119117   PMID:17154264   PMID:17963166   PMID:18025170   PMID:18051214   PMID:18775026   PMID:19074885   PMID:19207947   PMID:19573080   PMID:19666484  
PMID:19698991   PMID:19726767   PMID:19731825   PMID:19773279   PMID:20025535   PMID:20230666   PMID:20237496   PMID:20460528   PMID:20554963   PMID:20568250   PMID:20945608   PMID:20974656  
PMID:21041452   PMID:21099364   PMID:21123970   PMID:21483105   PMID:21515993   PMID:21607696   PMID:21687682   PMID:21744373   PMID:21871426   PMID:21873635   PMID:22028296   PMID:22124120  
PMID:22699762   PMID:23272079   PMID:23276925   PMID:23493554   PMID:24602383   PMID:24809296   PMID:24825858   PMID:25056061   PMID:25301447   PMID:25454804   PMID:25569260   PMID:26097183  
PMID:26122175   PMID:26214745   PMID:26327569   PMID:26613719   PMID:26749059   PMID:27436754   PMID:27468724   PMID:28028945   PMID:28249164   PMID:28441631   PMID:28573703   PMID:28800164  
PMID:28834574   PMID:29087261   PMID:29309290   PMID:30467093   PMID:32172995   PMID:32506205   PMID:32523317   PMID:32576236   PMID:34201032  


Genomics

Comparative Map Data
TNFRSF13C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,922,032 - 41,926,806 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,922,032 - 41,926,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,318,036 - 42,322,810 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,650,982 - 40,652,728 (-)NCBINCBI36hg18NCBI36
Build 342240,645,535 - 40,647,282NCBI
Celera2226,127,271 - 26,129,056 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,286,634 - 25,288,419 (-)NCBIHuRef
CHM1_12242,281,235 - 42,283,020 (-)NCBICHM1_1
Tnfrsf13c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,105,943 - 82,108,581 (-)NCBIGRCm39mm39
GRCm39 Ensembl1582,105,944 - 82,108,570 (-)Ensembl
GRCm381582,221,742 - 82,224,380 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,221,743 - 82,224,369 (-)EnsemblGRCm38mm10GRCm38
MGSCv371582,052,174 - 82,054,766 (-)NCBIGRCm37mm9NCBIm37
MGSCv361582,048,999 - 82,051,591 (-)NCBImm8
Celera1584,345,398 - 84,346,929 (-)NCBICelera
Cytogenetic Map15E1NCBI
Tnfrsf13c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,736,046 - 113,738,523 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,736,055 - 113,738,517 (-)Ensembl
Rnor_6.07123,453,799 - 123,456,289 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,453,788 - 123,456,268 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,438,591 - 123,439,975 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,596,571 - 120,597,836 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7110,051,209 - 110,053,699 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tnfrsf13c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541327,341,977 - 27,344,009 (-)NCBIChiLan1.0ChiLan1.0
TNFRSF13C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v02222,816,504 - 22,819,584 (-)NCBIMhudiblu_PPA_v0panPan3
TNFRSF13C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,430,960 - 23,434,972 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,433,052 - 23,438,946 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,365,041 - 23,369,055 (+)NCBI
ROS_Cfam_1.01024,175,948 - 24,179,962 (+)NCBI
UMICH_Zoey_3.11023,892,942 - 23,896,956 (+)NCBI
UNSW_CanFamBas_1.01024,214,176 - 24,218,207 (+)NCBI
UU_Cfam_GSD_1.01024,388,325 - 24,392,339 (+)NCBI
Tnfrsf13c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,088,464 - 7,089,921 (+)NCBI
SpeTri2.0NW_00493649298,878 - 101,920 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFRSF13C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,699,877 - 6,703,659 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,699,812 - 6,703,403 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TNFRSF13C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,457,381 - 24,459,438 (-)NCBI
Vero_WHO_p1.0NW_023666045100,952,971 - 100,954,833 (+)NCBI
Tnfrsf13c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,797,453 - 6,799,437 (+)NCBI

Position Markers
UniSTS:480937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,321,321 - 42,322,782UniSTSGRCh37
Celera2226,127,556 - 26,129,017UniSTS
HuRef2225,286,919 - 25,288,380UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:289
Count of miRNA genes:264
Interacting mature miRNAs:272
Transcripts:ENST00000291232
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 pharyngeal arch
High
Medium 156 276 35 3 1258 1 21 14 8 8 24 75 13 19 2
Low 794 829 614 282 661 129 2232 239 2369 175 972 917 168 1 425 1142 3
Below cutoff 1415 1810 1036 311 32 307 2033 1885 1352 199 458 607 6 763 1560 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB222990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF373846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX772914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX800072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN552707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HA635640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC049947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC069087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC083955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC086503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG327310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH836170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000291232   ⟹   ENSP00000291232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,922,032 - 41,926,806 (-)Ensembl
RefSeq Acc Id: NM_052945   ⟹   NP_443177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,922,032 - 41,926,806 (-)NCBI
GRCh372242,321,036 - 42,322,821 (-)ENTREZGENE
Build 362240,650,982 - 40,652,728 (-)NCBI Archive
HuRef2225,286,634 - 25,288,419 (-)ENTREZGENE
CHM1_12242,281,235 - 42,283,020 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443177   ⟸   NM_052945
- UniProtKB: Q96RJ3 (UniProtKB/Swiss-Prot),   Q5H8V1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000291232   ⟸   ENST00000291232
Protein Domains
BaffR-Tall_bind

Promoters
RGD ID:6800415
Promoter ID:HG_KWN:43030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000322046,   UC010GYP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,652,646 - 40,653,647 (-)MPROMDB
RGD ID:13604292
Promoter ID:EPDNEW_H28330
Type:initiation region
Name:TNFRSF13C_1
Description:TNF receptor superfamily member 13C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,926,806 - 41,926,866EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
TNFRSF13C, 24-BP DEL, NT89 deletion Common variable immunodeficiency 4 [RCV000004713] Chr22:22q13.1-q13.31 pathogenic
NM_052945.3(TNFRSF13C):c.122C>T (p.Pro41Leu) single nucleotide variant Common variable immunodeficiency 4 [RCV000576165] Chr22:41926652 [GRCh38]
Chr22:42322656 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 copy number gain See cases [RCV000142720] Chr22:41764466..41998153 [GRCh38]
Chr22:42160470..42394157 [GRCh37]
Chr22:40490416..40724103 [NCBI36]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.137-7del deletion Common variable immunodeficiency 4 [RCV001482798]|not provided [RCV000549760] Chr22:41926338 [GRCh38]
Chr22:42322342 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_052945.3(TNFRSF13C):c.252G>A (p.Leu84=) single nucleotide variant Common Variable Immune Deficiency, Recessive [RCV000281136] Chr22:41926216 [GRCh38]
Chr22:42322220 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.*120T>C single nucleotide variant Common variable immunodeficiency 4 [RCV000273820] Chr22:41925247 [GRCh38]
Chr22:42321251 [GRCh37]
Chr22:22q13.2
benign
NM_052945.3(TNFRSF13C):c.192C>T (p.Gly64=) single nucleotide variant Common variable immunodeficiency 4 [RCV000948136] Chr22:41926276 [GRCh38]
Chr22:42322280 [GRCh37]
Chr22:22q13.2
benign|likely benign|uncertain significance
NM_052945.3(TNFRSF13C):c.255G>C (p.Leu85=) single nucleotide variant Common variable immunodeficiency 4 [RCV000375212]|not provided [RCV000934543] Chr22:41926213 [GRCh38]
Chr22:42322217 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) single nucleotide variant Common variable immunodeficiency 4 [RCV000648324] Chr22:41926712 [GRCh38]
Chr22:42322716 [GRCh37]
Chr22:22q13.2
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052945.3(TNFRSF13C):c.*113G>A single nucleotide variant Common variable immunodeficiency 4 [RCV000333562] Chr22:41925254 [GRCh38]
Chr22:42321258 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) single nucleotide variant Common variable immunodeficiency 2 [RCV001197550]|Common variable immunodeficiency 4 [RCV000539736]|not specified [RCV000506848] Chr22:41926151 [GRCh38]
Chr22:42322155 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052945.3(TNFRSF13C):c.288G>A (p.Val96=) single nucleotide variant Common variable immunodeficiency 4 [RCV000315905] Chr22:41926180 [GRCh38]
Chr22:42322184 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.347C>T (p.Ala116Val) single nucleotide variant Common variable immunodeficiency 4 [RCV000369528] Chr22:41926121 [GRCh38]
Chr22:42322125 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.-10C>A single nucleotide variant Common variable immunodeficiency 4 [RCV000341859] Chr22:41926783 [GRCh38]
Chr22:42322787 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.165G>A (p.Thr55=) single nucleotide variant Common variable immunodeficiency 4 [RCV000376880] Chr22:41926303 [GRCh38]
Chr22:42322307 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) single nucleotide variant Common variable immunodeficiency 4 [RCV000999851]|not provided [RCV000658943] Chr22:41925447 [GRCh38]
Chr22:42321451 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052945.3(TNFRSF13C):c.191G>T (p.Gly64Val) single nucleotide variant Common variable immunodeficiency 4 [RCV000999907]|not provided [RCV000514373] Chr22:41926277 [GRCh38]
Chr22:42322281 [GRCh37]
Chr22:22q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_052945.3(TNFRSF13C):c.60C>T (p.Val20=) single nucleotide variant Common variable immunodeficiency 4 [RCV000549954]|not specified [RCV000507563] Chr22:41926714 [GRCh38]
Chr22:42322718 [GRCh37]
Chr22:22q13.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.181G>A (p.Glu61Lys) single nucleotide variant Common variable immunodeficiency 4 [RCV000576214] Chr22:41926287 [GRCh38]
Chr22:42322291 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_052945.3(TNFRSF13C):c.264A>G (p.Ala88=) single nucleotide variant Common variable immunodeficiency 4 [RCV000525301] Chr22:41926204 [GRCh38]
Chr22:42322208 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.229C>T (p.Leu77=) single nucleotide variant Common variable immunodeficiency 4 [RCV001001643] Chr22:41926239 [GRCh38]
Chr22:42322243 [GRCh37]
Chr22:22q13.2
benign
NM_052945.3(TNFRSF13C):c.191_192delinsTT (p.Gly64Val) indel Common variable immunodeficiency 4 [RCV000538153] Chr22:41926276..41926277 [GRCh38]
Chr22:42322280..42322281 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.132A>G (p.Lys44=) single nucleotide variant Common variable immunodeficiency 4 [RCV000648329] Chr22:41926642 [GRCh38]
Chr22:42322646 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.213G>A (p.Ala71=) single nucleotide variant Common variable immunodeficiency 4 [RCV000648328] Chr22:41926255 [GRCh38]
Chr22:42322259 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity
NM_052945.3(TNFRSF13C):c.367+10G>T single nucleotide variant Common variable immunodeficiency 4 [RCV000648326] Chr22:41926091 [GRCh38]
Chr22:42322095 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.282C>T (p.Val94=) single nucleotide variant Common variable immunodeficiency 4 [RCV000648325] Chr22:41926186 [GRCh38]
Chr22:42322190 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_052945.3(TNFRSF13C):c.-6G>A single nucleotide variant not provided [RCV000658944] Chr22:41926779 [GRCh38]
Chr22:42322783 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_052945.3(TNFRSF13C):c.478A>G (p.Ser160Gly) single nucleotide variant Common variable immunodeficiency 4 [RCV000698012] Chr22:41925444 [GRCh38]
Chr22:42321448 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_052945.3(TNFRSF13C):c.375G>A (p.Glu125=) single nucleotide variant Common variable immunodeficiency 4 [RCV000902721] Chr22:41925547 [GRCh38]
Chr22:42321551 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity
NM_052945.4(TNFRSF13C):c.311_322del (p.Arg104_Arg107del) deletion Common variable immunodeficiency 4 [RCV001051839] Chr22:41926146..41926157 [GRCh38]
Chr22:42322150..42322161 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.199G>A (p.Ala67Thr) single nucleotide variant Common variable immunodeficiency 4 [RCV001036651] Chr22:41926269 [GRCh38]
Chr22:42322273 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.405G>A (p.Pro135=) single nucleotide variant Common variable immunodeficiency 4 [RCV000915071] Chr22:41925517 [GRCh38]
Chr22:42321521 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.82C>T (p.Leu28=) single nucleotide variant Common variable immunodeficiency 4 [RCV001409987]|not provided [RCV000939056] Chr22:41926692 [GRCh38]
Chr22:42322696 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.102C>T (p.Ala34=) single nucleotide variant Common variable immunodeficiency 4 [RCV000968902] Chr22:41926672 [GRCh38]
Chr22:42322676 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.246C>T (p.Pro82=) single nucleotide variant Common variable immunodeficiency 4 [RCV000967637] Chr22:41926222 [GRCh38]
Chr22:42322226 [GRCh37]
Chr22:22q13.2
benign|conflicting interpretations of pathogenicity
NM_052945.3(TNFRSF13C):c.534_543delinsAATAGCAGG (p.Ala179fs) indel Common variable immunodeficiency 4 [RCV000817251] Chr22:41925379..41925388 [GRCh38]
Chr22:42321383..42321392 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.485C>T (p.Pro162Leu) single nucleotide variant Common variable immunodeficiency 4 [RCV000816123] Chr22:41925437 [GRCh38]
Chr22:42321441 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.325C>T (p.Arg109Cys) single nucleotide variant Common variable immunodeficiency 4 [RCV000813859] Chr22:41926143 [GRCh38]
Chr22:42322147 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.173A>T (p.Gln58Leu) single nucleotide variant Common variable immunodeficiency 4 [RCV000802509] Chr22:41926295 [GRCh38]
Chr22:42322299 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_052945.4(TNFRSF13C):c.278T>C (p.Leu93Pro) single nucleotide variant Common variable immunodeficiency 4 [RCV001046056] Chr22:41926190 [GRCh38]
Chr22:42322194 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.11:g.(?_41925347)_(41926793_?)dup duplication Common variable immunodeficiency 4 [RCV001031932] Chr22:42321351..42322797 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val) single nucleotide variant Common variable immunodeficiency 4 [RCV001145341] Chr22:41926124 [GRCh38]
Chr22:42322128 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.257_268del (p.Gly86_Leu89del) deletion Common variable immunodeficiency 4 [RCV001223069] Chr22:41926200..41926211 [GRCh38]
Chr22:42322204..42322215 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.37G>T (p.Ala13Ser) single nucleotide variant Common variable immunodeficiency 4 [RCV001222123] Chr22:41926737 [GRCh38]
Chr22:42322741 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_052945.4(TNFRSF13C):c.*253C>T single nucleotide variant Common variable immunodeficiency 4 [RCV001149649] Chr22:41925114 [GRCh38]
Chr22:42321118 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.447G>A (p.Gly149=) single nucleotide variant Common variable immunodeficiency 4 [RCV001442225]|not provided [RCV000931155] Chr22:41925475 [GRCh38]
Chr22:42321479 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.3(TNFRSF13C):c.351C>G (p.Pro117=) single nucleotide variant Common variable immunodeficiency 4 [RCV000979213] Chr22:41926117 [GRCh38]
Chr22:42322121 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.368-15C>A single nucleotide variant Common variable immunodeficiency 4 [RCV001145340] Chr22:41925569 [GRCh38]
Chr22:42321573 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.3(TNFRSF13C):c.436C>T (p.Pro146Ser) single nucleotide variant Common variable immunodeficiency 4 [RCV000889803] Chr22:41925486 [GRCh38]
Chr22:42321490 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity
NM_052945.4(TNFRSF13C):c.*107G>C single nucleotide variant Common variable immunodeficiency 4 [RCV001149650] Chr22:41925260 [GRCh38]
Chr22:42321264 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.368-13C>G single nucleotide variant Common variable immunodeficiency 4 [RCV001149651] Chr22:41925567 [GRCh38]
Chr22:42321571 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=) single nucleotide variant Common variable immunodeficiency 4 [RCV001145342] Chr22:41926161 [GRCh38]
Chr22:42322165 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_052945.4(TNFRSF13C):c.190G>A (p.Gly64Ser) single nucleotide variant Common variable immunodeficiency 4 [RCV001063510] Chr22:41926278 [GRCh38]
Chr22:42322282 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3 copy number gain not provided [RCV001258784] Chr22:42158393..42409550 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_052945.4(TNFRSF13C):c.224C>A (p.Pro75His) single nucleotide variant Common variable immunodeficiency 4 [RCV001361591] Chr22:41926244 [GRCh38]
Chr22:42322248 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.367+16A>G single nucleotide variant Common variable immunodeficiency 4 [RCV001433703] Chr22:41926085 [GRCh38]
Chr22:42322089 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.11G>A (p.Gly4Glu) single nucleotide variant Common variable immunodeficiency 4 [RCV001369488] Chr22:41926763 [GRCh38]
Chr22:42322767 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.538G>A (p.Gly180Ser) single nucleotide variant Common variable immunodeficiency 4 [RCV001373584] Chr22:41925384 [GRCh38]
Chr22:42321388 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.275_286del (p.88ALVL[1]) deletion Common variable immunodeficiency 4 [RCV001339105] Chr22:41926182..41926193 [GRCh38]
Chr22:42322186..42322197 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.226G>T (p.Gly76Trp) single nucleotide variant Common variable immunodeficiency 4 [RCV001370526] Chr22:41926242 [GRCh38]
Chr22:42322246 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.89G>A (p.Arg30His) single nucleotide variant Common variable immunodeficiency 4 [RCV001318142] Chr22:41926685 [GRCh38]
Chr22:42322689 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.264_265insATGGTCCTGGCG (p.Leu89_Val90insMetValLeuAla) insertion Common variable immunodeficiency 4 [RCV001369182] Chr22:41926203..41926204 [GRCh38]
Chr22:42322207..42322208 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.264_275dup (p.88ALVL[3]) duplication Common variable immunodeficiency 4 [RCV001307124] Chr22:41926192..41926193 [GRCh38]
Chr22:42322196..42322197 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.10:g.(?_42321351)_(42322797_?)dup duplication Common variable immunodeficiency 4 [RCV001315137] Chr22:42321351..42322797 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_052945.4(TNFRSF13C):c.368-10C>G single nucleotide variant Common variable immunodeficiency 4 [RCV001428127] Chr22:41925564 [GRCh38]
Chr22:42321568 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.126G>A (p.Arg42=) single nucleotide variant Common variable immunodeficiency 4 [RCV001492518] Chr22:41926648 [GRCh38]
Chr22:42322652 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.507C>T (p.Gly169=) single nucleotide variant Common variable immunodeficiency 4 [RCV001480733] Chr22:41925415 [GRCh38]
Chr22:42321419 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.240C>T (p.Gly80=) single nucleotide variant Common variable immunodeficiency 4 [RCV001446205] Chr22:41926228 [GRCh38]
Chr22:42322232 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.33G>A (p.Arg11=) single nucleotide variant Common variable immunodeficiency 4 [RCV001444443] Chr22:41926741 [GRCh38]
Chr22:42322745 [GRCh37]
Chr22:22q13.2
likely benign
NM_052945.4(TNFRSF13C):c.276G>C (p.Ala92=) single nucleotide variant Common variable immunodeficiency 4 [RCV001436474] Chr22:41926192 [GRCh38]
Chr22:42322196 [GRCh37]
Chr22:22q13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17755 AgrOrtholog
COSMIC TNFRSF13C COSMIC
Ensembl Genes ENSG00000159958 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000291232 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000291232 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000159958 GTEx
HGNC ID HGNC:17755 ENTREZGENE
Human Proteome Map TNFRSF13C Human Proteome Map
InterPro TNFR_13C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_13C/17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_13C_TALL-1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:115650 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 115650 ENTREZGENE
OMIM 606269 OMIM
  613494 OMIM
PANTHER PTHR20437 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR20437:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BaffR-Tall_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38466 PharmGKB
PRINTS TNFACTORR13C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C8ZLJ6_HUMAN UniProtKB/TrEMBL
  Q5H8V1 ENTREZGENE, UniProtKB/TrEMBL
  Q96RJ3 ENTREZGENE
  S6FW99_HUMAN UniProtKB/TrEMBL
  TR13C_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 TNFRSF13C  TNF receptor superfamily member 13C    tumor necrosis factor receptor superfamily member 13C  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFRSF13C  tumor necrosis factor receptor superfamily member 13C    tumor necrosis factor receptor superfamily, member 13C  Symbol and/or name change 5135510 APPROVED
2011-08-16 TNFRSF13C  tumor necrosis factor receptor superfamily, member 13C  TNFRSF13C  tumor necrosis factor receptor superfamily, member 13C  Symbol and/or name change 5135510 APPROVED