F13B (coagulation factor XIII B chain) - Rat Genome Database

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Gene: F13B (coagulation factor XIII B chain) Homo sapiens
Analyze
Symbol: F13B
Name: coagulation factor XIII B chain
RGD ID: 1323246
HGNC Page HGNC
Description: Predicted to be involved in blood coagulation. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: coagulation factor XIII, B polypeptide; fibrin-stabilizing factor B subunit; FXIIIB; protein-glutamine gamma-glutamyltransferase B chain; TGase; transglutaminase B chain
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 Ensembl1197,038,741 - 197,067,260 (-)EnsemblGRCh38hg38GRCh38
GRCh381197,038,741 - 197,067,264 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371197,007,871 - 197,036,390 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,274,944 - 195,303,020 (-)NCBINCBI36hg18NCBI36
Build 341193,739,977 - 193,768,021NCBI
Celera1170,133,795 - 170,161,866 (-)NCBI
Cytogenetic Map1q31.3NCBI
HuRef1168,165,553 - 168,193,910 (-)NCBIHuRef
CHM1_11198,430,602 - 198,458,850 (-)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

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:1359667   PMID:1549502   PMID:2271707   PMID:2334637   PMID:2339067   PMID:2413926   PMID:2491853   PMID:2563250   PMID:2866798   PMID:2877457   PMID:3021194   PMID:3471677  
PMID:7873582   PMID:8324218   PMID:8466897   PMID:8756701   PMID:8797098   PMID:8847818   PMID:8905624   PMID:8922891   PMID:9037894   PMID:9531593   PMID:10391209   PMID:11313256  
PMID:11816711   PMID:12456499   PMID:12477932   PMID:14702039   PMID:14718574   PMID:15634282   PMID:15892856   PMID:16241947   PMID:16335952   PMID:16712791   PMID:16945500   PMID:17515963  
PMID:17691819   PMID:17702963   PMID:18006701   PMID:18029348   PMID:18541031   PMID:18652485   PMID:18848323   PMID:19604232   PMID:19646949   PMID:19729601   PMID:19826759   PMID:19913121  
PMID:19937244   PMID:19948975   PMID:20079358   PMID:20237496   PMID:20452482   PMID:20588308   PMID:20628086   PMID:20673868   PMID:21044367   PMID:21640452   PMID:22329719   PMID:22398040  
PMID:22704111   PMID:23407795   PMID:24476525   PMID:24503678   PMID:24925725   PMID:25569091   PMID:26088309   PMID:26159793   PMID:26802299   PMID:27561317   PMID:27821352   PMID:28865246  
PMID:29484525   PMID:30915671   PMID:33540604  


Genomics

Comparative Map Data
F13B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1197,038,741 - 197,067,260 (-)EnsemblGRCh38hg38GRCh38
GRCh381197,038,741 - 197,067,264 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371197,007,871 - 197,036,390 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,274,944 - 195,303,020 (-)NCBINCBI36hg18NCBI36
Build 341193,739,977 - 193,768,021NCBI
Celera1170,133,795 - 170,161,866 (-)NCBI
Cytogenetic Map1q31.3NCBI
HuRef1168,165,553 - 168,193,910 (-)NCBIHuRef
CHM1_11198,430,602 - 198,458,850 (-)NCBICHM1_1
F13b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391139,429,285 - 139,451,496 (+)NCBIGRCm39mm39
GRCm39 Ensembl1139,429,440 - 139,451,490 (+)Ensembl
GRCm381139,501,547 - 139,523,758 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1139,501,702 - 139,523,752 (+)EnsemblGRCm38mm10GRCm38
MGSCv371141,398,284 - 141,420,333 (+)NCBIGRCm37mm9NCBIm37
MGSCv361141,318,138 - 141,340,167 (+)NCBImm8
Celera1142,138,905 - 142,161,049 (+)NCBICelera
Cytogenetic Map1FNCBI
cM Map161.57NCBI
F13b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21351,130,851 - 51,156,383 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1356,598,957 - 56,623,124 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01356,598,891 - 56,623,132 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01361,616,993 - 61,641,168 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41352,867,851 - 52,889,426 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11352,881,574 - 52,902,300 (+)NCBI
Celera1351,393,593 - 51,416,193 (+)NCBICelera
Cytogenetic Map13q13NCBI
F13b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540633,632,144 - 33,660,535 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540633,633,911 - 33,660,506 (-)NCBIChiLan1.0ChiLan1.0
F13B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11176,938,155 - 176,965,609 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1176,937,158 - 176,965,773 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01172,623,336 - 172,651,945 (-)NCBIMhudiblu_PPA_v0panPan3
F13B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.175,674,458 - 5,700,928 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl75,674,416 - 5,700,905 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha75,303,651 - 5,331,440 (+)NCBI
ROS_Cfam_1.075,370,630 - 5,398,422 (+)NCBI
UMICH_Zoey_3.175,305,382 - 5,333,161 (+)NCBI
UNSW_CanFamBas_1.075,406,384 - 5,434,127 (+)NCBI
UU_Cfam_GSD_1.075,439,496 - 5,467,295 (+)NCBI
F13b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934477,477,966 - 77,500,748 (+)NCBI
SpeTri2.0NW_0049365676,712,666 - 6,735,539 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F13B
(Sus scrofa - pig)
No map positions available.
F13B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12532,357,540 - 32,390,349 (+)NCBI
ChlSab1.1 Ensembl2532,357,993 - 32,389,973 (+)Ensembl
Vero_WHO_p1.0NW_02366605533,265,712 - 33,296,197 (+)NCBI
F13b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247983,231,592 - 3,261,500 (+)NCBI

Position Markers
AL033973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,030,673 - 197,030,806UniSTSGRCh37
Build 361195,297,296 - 195,297,429RGDNCBI36
Celera1170,156,142 - 170,156,275RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,188,186 - 168,188,319UniSTS
AL009648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,026,137 - 197,026,305UniSTSGRCh37
Build 361195,292,760 - 195,292,928RGDNCBI36
Celera1170,151,606 - 170,151,774RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,183,650 - 168,183,818UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:107
Count of miRNA genes:98
Interacting mature miRNAs:103
Transcripts:ENST00000367412, ENST00000490002
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 adipose tissue appendage
High
Medium 1 1 379 379 379
Low 8 5 56 56 7 57 3 3 5 310 4 3 1
Below cutoff 288 360 176 31 383 13 407 223 328 35 238 233 21 111 258

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000367412   ⟹   ENSP00000356382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1197,038,741 - 197,067,260 (-)Ensembl
RefSeq Acc Id: ENST00000490002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1197,040,145 - 197,050,845 (-)Ensembl
RefSeq Acc Id: ENST00000649282   ⟹   ENSP00000497116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1197,038,741 - 197,055,823 (-)Ensembl
RefSeq Acc Id: NM_001994   ⟹   NP_001985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,038,741 - 197,067,260 (-)NCBI
GRCh371197,007,877 - 197,036,568 (-)NCBI
Build 361195,274,944 - 195,303,020 (-)NCBI Archive
HuRef1168,165,553 - 168,193,910 (-)ENTREZGENE
CHM1_11198,430,602 - 198,458,850 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509283   ⟹   XP_011507585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,038,741 - 197,067,264 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509284   ⟹   XP_011507586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,038,741 - 197,067,264 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509286   ⟹   XP_011507588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,038,741 - 197,067,254 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001985   ⟸   NM_001994
- Peptide Label: precursor
- UniProtKB: P05160 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011507586   ⟸   XM_011509284
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011507585   ⟸   XM_011509283
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507588   ⟸   XM_011509286
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000497116   ⟸   ENST00000649282
RefSeq Acc Id: ENSP00000356382   ⟸   ENST00000367412
Protein Domains
Sushi

Promoters
RGD ID:6858470
Promoter ID:EPDNEW_H2400
Type:multiple initiation site
Name:F13B_1
Description:coagulation factor XIII B chain
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
GRCh381197,067,260 - 197,067,320EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
F13B, 1-BP DEL, IVS1AS, A, -2 deletion Factor XIII, b subunit, deficiency of [RCV000017982] Chr1:1q31-q32.1 pathogenic
F13B, 3-BP INS, AAC insertion Factor XIII, b subunit, deficiency of [RCV000017985] Chr1:1q31-q32.1 pathogenic
NM_001994.2(F13B):c.1498del (p.Glu500fs) deletion Factor XIII, b subunit, deficiency of [RCV000017986] Chr1:197052691 [GRCh38]
Chr1:197021821 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000017983] Chr1:197055720 [GRCh38]
Chr1:197024850 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.2(F13B):c.344G>A (p.Arg115His) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000301691]|Venous thrombosis, susceptibility to [RCV000017984]|not specified [RCV000253350] Chr1:197061891 [GRCh38]
Chr1:197031021 [GRCh37]
Chr1:1q31.3
risk factor|benign
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_001994.2(F13B):c.325delA (p.Ile110Phefs) deletion Malignant melanoma [RCV000060034] Chr1:197061910 [GRCh38]
Chr1:197031040 [GRCh37]
Chr1:195297663 [NCBI36]
Chr1:1q31.3
not provided
NM_001994.2(F13B):c.1739-8_1739-6del microsatellite Factor XIII, b subunit, deficiency of [RCV000362196]|not provided [RCV000881320] Chr1:197040741..197040743 [GRCh38]
Chr1:197009871..197009873 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_001994.3(F13B):c.242G>A (p.Trp81Ter) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001332072] Chr1:197062880 [GRCh38]
Chr1:197032010 [GRCh37]
Chr1:1q31.3
pathogenic
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1
pathogenic
GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1 copy number loss See cases [RCV000135432] Chr1:195514309..197896494 [GRCh38]
Chr1:195483439..197865624 [GRCh37]
Chr1:193750062..196132247 [NCBI36]
Chr1:1q31.3
pathogenic
NM_001994.2(F13B):c.354C>T (p.Cys118=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000406711] Chr1:197061881 [GRCh38]
Chr1:197031011 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000406546]|not provided [RCV000969415] Chr1:197050728 [GRCh38]
Chr1:197019858 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_001994.2(F13B):c.1089A>C (p.Ala363=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000388281] Chr1:197057095 [GRCh38]
Chr1:197026225 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1815C>T (p.His605=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000393565] Chr1:197040659 [GRCh38]
Chr1:197009789 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1670A>G (p.His557Arg) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000303774] Chr1:197050765 [GRCh38]
Chr1:197019895 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1060T>C (p.Tyr354His) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000293917] Chr1:197057124 [GRCh38]
Chr1:197026254 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1320A>G (p.Glu440=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000263641] Chr1:197055749 [GRCh38]
Chr1:197024879 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.570G>A (p.Lys190=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000287142] Chr1:197060957 [GRCh38]
Chr1:197030087 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.877C>T (p.Arg293Cys) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000290506] Chr1:197057394 [GRCh38]
Chr1:197026524 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1145A>G (p.Lys382Arg) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000260264] Chr1:197057039 [GRCh38]
Chr1:197026169 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1961C>T (p.Ser654Phe) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000292321] Chr1:197039403 [GRCh38]
Chr1:197008533 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.986-4T>C single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000384798] Chr1:197057202 [GRCh38]
Chr1:197026332 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1285T>C (p.Tyr429His) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000319049] Chr1:197055784 [GRCh38]
Chr1:197024914 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1902G>A (p.Met634Ile) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000347150] Chr1:197040572 [GRCh38]
Chr1:197009702 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1025T>C (p.Ile342Thr) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000330278]|not provided [RCV000953162] Chr1:197057159 [GRCh38]
Chr1:197026289 [GRCh37]
Chr1:1q31.3
benign|uncertain significance
NM_001994.2(F13B):c.1098C>T (p.Ser366=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000334219] Chr1:197057086 [GRCh38]
Chr1:197026216 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.796G>C (p.Val266Leu) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000345531] Chr1:197060375 [GRCh38]
Chr1:197029505 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1163A>T (p.Glu388Val) single nucleotide variant Factor XIII deficiency [RCV001270109]|Factor XIII, b subunit, deficiency of [RCV000355152] Chr1:197057021 [GRCh38]
Chr1:197026151 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.1806T>C (p.Asn602=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000307541]|not specified [RCV000248564] Chr1:197040668 [GRCh38]
Chr1:197009798 [GRCh37]
Chr1:1q31.3
benign
NM_001994.2(F13B):c.1556-13C>A single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000358609]|not specified [RCV000243830] Chr1:197050892 [GRCh38]
Chr1:197020022 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_001994.2(F13B):c.456A>G (p.Thr152=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000341515]|not specified [RCV000245968] Chr1:197061071 [GRCh38]
Chr1:197030201 [GRCh37]
Chr1:1q31.3
benign
NM_001994.2(F13B):c.645_647del (p.Leu216del) deletion Factor XIII, b subunit, deficiency of [RCV000401366] Chr1:197060524..197060526 [GRCh38]
Chr1:197029654..197029656 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.-30T>A single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000337961] Chr1:197067253 [GRCh38]
Chr1:197036383 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.*162C>A single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000295928] Chr1:197039216 [GRCh38]
Chr1:197008346 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.2(F13B):c.*89G>C single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000393535] Chr1:197039289 [GRCh38]
Chr1:197008419 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_001994.2(F13B):c.*143G>A single nucleotide variant Factor XIII, b subunit, deficiency of [RCV000350793] Chr1:197039235 [GRCh38]
Chr1:197008365 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_001994.2(F13B):c.1223C>G (p.Ala408Gly) single nucleotide variant not provided [RCV000594751] Chr1:197055846 [GRCh38]
Chr1:197024976 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001099631] Chr1:197040597 [GRCh38]
Chr1:197009727 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1 copy number loss not provided [RCV000684683] Chr1:195089818..197443021 [GRCh37]
Chr1:1q31.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q31.3(chr1:196620593-197009798)x3 copy number gain not provided [RCV000736810] Chr1:196620593..197009798 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196620593-197165014)x3 copy number gain not provided [RCV000736811] Chr1:196620593..197165014 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196713725-197141320)x3 copy number gain not provided [RCV000736815] Chr1:196713725..197141320 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196713725-197168178)x3 copy number gain not provided [RCV000736816] Chr1:196713725..197168178 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q31.3(chr1:196621221-197009798)x3 copy number gain not provided [RCV000749299] Chr1:196621221..197009798 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196621221-197141320)x3 copy number gain not provided [RCV000749300] Chr1:196621221..197141320 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196622041-197012194)x3 copy number gain not provided [RCV000749301] Chr1:196622041..197012194 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196711067-197009798)x3 copy number gain not provided [RCV000749306] Chr1:196711067..197009798 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196712596-197009798)x3 copy number gain not provided [RCV000749310] Chr1:196712596..197009798 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q31.3(chr1:196713725-197009798)x3 copy number gain not provided [RCV000749314] Chr1:196713725..197009798 [GRCh37]
Chr1:1q31.3
benign
NM_001994.3(F13B):c.765C>T (p.Cys255=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001097930]|not provided [RCV000969416] Chr1:197060406 [GRCh38]
Chr1:197029536 [GRCh37]
Chr1:1q31.3
benign|uncertain significance
NM_001994.2(F13B):c.299_300insAAC (p.Tyr100Ter) insertion Coagulation factor deficiency syndrome [RCV000851768] Chr1:197061935..197061936 [GRCh38]
Chr1:197031065..197031066 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.3(F13B):c.874T>G (p.Tyr292Asp) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001097928] Chr1:197057397 [GRCh38]
Chr1:197026527 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.1106T>C (p.Leu369Pro) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001096186] Chr1:197057078 [GRCh38]
Chr1:197026208 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.96T>C (p.Asn32=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001099719] Chr1:197063026 [GRCh38]
Chr1:197032156 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.889A>C (p.Ile297Leu) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001097927] Chr1:197057382 [GRCh38]
Chr1:197026512 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001099630] Chr1:197040539 [GRCh38]
Chr1:197009669 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.224C>T (p.Thr75Met) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001099718] Chr1:197062898 [GRCh38]
Chr1:197032028 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1 copy number loss not provided [RCV000847068] Chr1:196315481..200200856 [GRCh37]
Chr1:1q31.3-32.1
uncertain significance
NM_001994.3(F13B):c.1257C>A (p.Ser419=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001101607] Chr1:197055812 [GRCh38]
Chr1:197024942 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.1228G>A (p.Gly410Arg) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001101608] Chr1:197055841 [GRCh38]
Chr1:197024971 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
NM_001994.3(F13B):c.1586T>C (p.Leu529Pro) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001101605]|not provided [RCV000890666] Chr1:197050849 [GRCh38]
Chr1:197019979 [GRCh37]
Chr1:1q31.3
benign|uncertain significance
NM_001994.3(F13B):c.1049A>G (p.His350Arg) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001096187]|not provided [RCV000890667] Chr1:197057135 [GRCh38]
Chr1:197026265 [GRCh37]
Chr1:1q31.3
benign|uncertain significance
NM_001994.3(F13B):c.815A>G (p.Asn272Ser) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001097929] Chr1:197057456 [GRCh38]
Chr1:197026586 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.-23C>A single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001101702] Chr1:197067246 [GRCh38]
Chr1:197036376 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.675T>A (p.His225Gln) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001097931] Chr1:197060496 [GRCh38]
Chr1:197029626 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_001994.3(F13B):c.1317C>T (p.Cys439=) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001101606] Chr1:197055752 [GRCh38]
Chr1:197024882 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_001994.3(F13B):c.1803del (p.Asp601fs) deletion Factor XIII, b subunit, deficiency of [RCV001336418] Chr1:197040671 [GRCh38]
Chr1:197009801 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) duplication Factor XIII, b subunit, deficiency of [RCV001336417] Chr1:197057028..197057029 [GRCh38]
Chr1:197026158..197026159 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.3(F13B):c.1942C>T (p.Pro648Ser) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001336419] Chr1:197040532 [GRCh38]
Chr1:197009662 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.1594C>T (p.His532Tyr) single nucleotide variant not provided [RCV001509111] Chr1:197050841 [GRCh38]
Chr1:197019971 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.162dup (p.Leu55fs) duplication not provided [RCV001380741] Chr1:197062959..197062960 [GRCh38]
Chr1:197032089..197032090 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_196918585)_(197742062_?)del deletion Retinitis pigmentosa 12 [RCV001390231] Chr1:196918585..197742062 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.3(F13B):c.1693G>A (p.Ala565Thr) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420396] Chr1:197050742 [GRCh38]
Chr1:197019872 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.881A>T (p.His294Leu) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420397] Chr1:197057390 [GRCh38]
Chr1:197026520 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.779G>T (p.Trp260Leu) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420398] Chr1:197060392 [GRCh38]
Chr1:197029522 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.625A>G (p.Thr209Ala) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420399] Chr1:197060902 [GRCh38]
Chr1:197030032 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420400] Chr1:197060962 [GRCh38]
Chr1:197030092 [GRCh37]
Chr1:1q31.3
pathogenic
NM_001994.3(F13B):c.521A>T (p.Asp174Val) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420401] Chr1:197061006 [GRCh38]
Chr1:197030136 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001994.3(F13B):c.431C>T (p.Pro144Leu) single nucleotide variant Factor XIII, b subunit, deficiency of [RCV001420402] Chr1:197061804 [GRCh38]
Chr1:197030934 [GRCh37]
Chr1:1q31.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3534 AgrOrtholog
COSMIC F13B COSMIC
Ensembl Genes ENSG00000143278 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000356382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497116 UniProtKB/TrEMBL
Ensembl Transcript ENST00000367412 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000649282 UniProtKB/TrEMBL
GTEx ENSG00000143278 GTEx
HGNC ID HGNC:3534 ENTREZGENE
Human Proteome Map F13B Human Proteome Map
InterPro Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2165 UniProtKB/Swiss-Prot
NCBI Gene 2165 ENTREZGENE
OMIM 134580 OMIM
  613235 OMIM
Pfam Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27944 PharmGKB
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IS66_HUMAN UniProtKB/TrEMBL
  F13B_HUMAN UniProtKB/Swiss-Prot
  L8E7P0_HUMAN UniProtKB/TrEMBL
  P05160 ENTREZGENE
UniProt Secondary A8K3E5 UniProtKB/Swiss-Prot
  Q5VYL5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 F13B  coagulation factor XIII B chain    coagulation factor XIII, B polypeptide  Symbol and/or name change 5135510 APPROVED