SERPINB12 (serpin family B member 12) - Rat Genome Database

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Gene: SERPINB12 (serpin family B member 12) Homo sapiens
Analyze
Symbol: SERPINB12
Name: serpin family B member 12
RGD ID: 1343942
HGNC Page HGNC:14220
Description: Enables serine-type endopeptidase inhibitor activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC119247; MGC119248; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12; serpin B12; serpin peptidase inhibitor, clade B (ovalbumin), member 12; YUKOPIN
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
GRCh381863,519,110 - 63,569,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1863,542,369 - 63,569,329 (+)EnsemblGRCh38hg38GRCh38
GRCh371861,209,602 - 61,236,562 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361859,374,373 - 59,385,224 (+)NCBINCBI36Build 36hg18NCBI36
Build 341859,374,372 - 59,385,224NCBI
Celera1857,943,890 - 57,954,746 (+)NCBICelera
Cytogenetic Map18q21.33NCBI
HuRef1857,923,215 - 57,934,075 (+)NCBIHuRef
CHM1_11861,219,374 - 61,230,454 (+)NCBICHM1_1
T2T-CHM13v2.01863,724,229 - 63,774,441 (+)NCBIT2T-CHM13v2.0
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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11604408   PMID:12477932   PMID:19380743   PMID:20360068   PMID:21145461   PMID:21800051   PMID:21873635   PMID:23376485   PMID:24163370   PMID:24172014   PMID:24332808   PMID:24457600  
PMID:24711643   PMID:24981860   PMID:25037231   PMID:25963833   PMID:26220980   PMID:26496610   PMID:26497600   PMID:26618866   PMID:26725010   PMID:27512140   PMID:27591049   PMID:28065597  
PMID:28685749   PMID:28973437   PMID:28977666   PMID:29117863   PMID:29128334   PMID:29178343   PMID:29408378   PMID:29467282   PMID:29507755   PMID:29563501   PMID:30026490   PMID:30045019  
PMID:30404004   PMID:30442662   PMID:30619335   PMID:30948266   PMID:31010829   PMID:31026779   PMID:31059266   PMID:31180492   PMID:31586073   PMID:31653522   PMID:32235678   PMID:32687490  
PMID:32801337   PMID:32941674   PMID:32989256   PMID:33961781   PMID:34445801   PMID:34728620   PMID:34732716   PMID:35013218   PMID:35271311   PMID:35338135   PMID:35474131   PMID:35568845  
PMID:35803934   PMID:35831895   PMID:35864588   PMID:35941108   PMID:35944360   PMID:35993436   PMID:36057605   PMID:36147463   PMID:36215168   PMID:36244648   PMID:36261009   PMID:36526897  
PMID:36560452   PMID:36574265   PMID:36636478   PMID:36898370   PMID:37689310   PMID:38113892  


Genomics

Comparative Map Data
SERPINB12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381863,519,110 - 63,569,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1863,542,369 - 63,569,329 (+)EnsemblGRCh38hg38GRCh38
GRCh371861,209,602 - 61,236,562 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361859,374,373 - 59,385,224 (+)NCBINCBI36Build 36hg18NCBI36
Build 341859,374,372 - 59,385,224NCBI
Celera1857,943,890 - 57,954,746 (+)NCBICelera
Cytogenetic Map18q21.33NCBI
HuRef1857,923,215 - 57,934,075 (+)NCBIHuRef
CHM1_11861,219,374 - 61,230,454 (+)NCBICHM1_1
T2T-CHM13v2.01863,724,229 - 63,774,441 (+)NCBIT2T-CHM13v2.0
Serpinb12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391106,862,179 - 106,884,810 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1106,862,179 - 106,884,810 (+)EnsemblGRCm39 Ensembl
GRCm381106,934,449 - 106,957,080 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1106,934,449 - 106,957,080 (+)EnsemblGRCm38mm10GRCm38
MGSCv371108,831,026 - 108,853,655 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361108,761,996 - 108,784,625 (+)NCBIMGSCv36mm8
Celera1109,783,814 - 109,805,887 (+)NCBICelera
Cytogenetic Map1E2.1NCBI
cM Map150.34NCBI
Serpinb12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81323,567,023 - 23,598,329 (+)NCBIGRCr8
mRatBN7.21323,052,384 - 23,083,691 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1323,052,448 - 23,083,691 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1323,374,783 - 23,406,019 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01324,659,242 - 24,690,484 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01323,344,967 - 23,376,203 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01326,970,824 - 26,999,709 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1326,970,660 - 26,998,357 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01331,616,215 - 31,619,910 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01332,119,751 - 32,147,132 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41313,106,080 - 13,137,360 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1322,909,857 - 22,938,862 (+)NCBICelera
Cytogenetic Map13p11NCBI
Serpinb12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540247,342,151 - 47,360,030 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540247,338,874 - 47,361,485 (+)NCBIChiLan1.0ChiLan1.0
SERPINB12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21781,029,581 - 81,081,205 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11866,722,192 - 66,773,816 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01856,915,588 - 56,926,603 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11860,227,478 - 60,238,721 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1860,190,661 - 60,240,704 (+)Ensemblpanpan1.1panPan2
SERPINB12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1113,516,993 - 13,539,834 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl113,518,850 - 13,539,956 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha114,476,959 - 14,501,163 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0113,371,247 - 13,395,525 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl113,374,489 - 13,395,606 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1113,409,543 - 13,433,747 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0113,338,833 - 13,363,115 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0113,587,695 - 13,611,747 (-)NCBIUU_Cfam_GSD_1.0
Serpinb12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494426,773,996 - 26,791,578 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364972,014,871 - 2,024,575 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINB12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1158,120,868 - 158,143,128 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11158,120,724 - 158,143,085 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SERPINB12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11816,193,673 - 16,208,866 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1816,194,694 - 16,206,029 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660609,483,861 - 9,496,030 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Serpinb12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247929,326,066 - 9,343,959 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247929,326,061 - 9,344,870 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SERPINB12
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.32-21.33(chr18:61092555-63621755)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]|See cases [RCV000053874] Chr18:61092555..63621755 [GRCh38]
Chr18:58759788..61288989 [GRCh37]
Chr18:56910768..59439969 [NCBI36]
Chr18:18q21.32-21.33
pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
NM_080474.1(SERPINB12):c.1004C>T (p.Pro335Leu) single nucleotide variant Malignant melanoma [RCV000071869] Chr18:63566797 [GRCh38]
Chr18:61234030 [GRCh37]
Chr18:59385010 [NCBI36]
Chr18:18q21.33
not provided
NM_080474.1(SERPINB12):c.243+38C>T single nucleotide variant Malignant melanoma [RCV000063402] Chr18:63558464 [GRCh38]
Chr18:61225697 [GRCh37]
Chr18:59376677 [NCBI36]
Chr18:18q21.33
not provided
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic|uncertain significance
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3 copy number gain See cases [RCV000139938] Chr18:63144445..64588458 [GRCh38]
Chr18:60811678..62255693 [GRCh37]
Chr18:58962658..60406673 [NCBI36]
Chr18:18q21.33-22.1
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 copy number gain See cases [RCV000143195] Chr18:59909593..72609801 [GRCh38]
Chr18:57576825..70277036 [GRCh37]
Chr18:55727805..68428016 [NCBI36]
Chr18:18q21.32-22.3
likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 copy number loss See cases [RCV000240432] Chr18:58014591..68158862 [GRCh37]
Chr18:18q21.32-22.2
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23
likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.33(chr18:61144239-61325868)x3 copy number gain See cases [RCV000447599] Chr18:61144239..61325868 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23
pathogenic
NM_001307928.2(SERPINB12):c.854A>T (p.Asn285Ile) single nucleotide variant Inborn genetic diseases [RCV003277542] Chr18:63565593 [GRCh38]
Chr18:61232826 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1
benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001307928.2(SERPINB12):c.229A>T (p.Ser77Cys) single nucleotide variant Inborn genetic diseases [RCV002901281] Chr18:63558412 [GRCh38]
Chr18:61225645 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001307928.2(SERPINB12):c.437T>C (p.Ile146Thr) single nucleotide variant Inborn genetic diseases [RCV003295337] Chr18:63559711 [GRCh38]
Chr18:61226944 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NC_000018.9:g.(?_59713089)_(61654512_?)del deletion Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001898809]|not provided [RCV001909119] Chr18:59713089..61654512 [GRCh37]
Chr18:18q21.33-22.1
pathogenic|no classifications from unflagged records
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
NC_000018.9:g.(?_59713089)_(61654512_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002029497] Chr18:59713089..61654512 [GRCh37]
Chr18:18q21.33-22.1
uncertain significance
NM_001307928.2(SERPINB12):c.757G>A (p.Gly253Ser) single nucleotide variant Inborn genetic diseases [RCV003276370] Chr18:63565496 [GRCh38]
Chr18:61232729 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001307928.2(SERPINB12):c.743G>T (p.Gly248Val) single nucleotide variant Inborn genetic diseases [RCV002687128] Chr18:63565482 [GRCh38]
Chr18:61232715 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.728T>C (p.Met243Thr) single nucleotide variant Inborn genetic diseases [RCV002732431] Chr18:63565467 [GRCh38]
Chr18:61232700 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.1226G>A (p.Arg409Lys) single nucleotide variant Inborn genetic diseases [RCV002883881] Chr18:63566959 [GRCh38]
Chr18:61234192 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.1007A>G (p.Asp336Gly) single nucleotide variant Inborn genetic diseases [RCV002902528] Chr18:63566740 [GRCh38]
Chr18:61233973 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.31T>G (p.Phe11Val) single nucleotide variant Inborn genetic diseases [RCV002758242] Chr18:63556190 [GRCh38]
Chr18:61223423 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.530A>C (p.Glu177Ala) single nucleotide variant Inborn genetic diseases [RCV002693976] Chr18:63561170 [GRCh38]
Chr18:61228403 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.799T>C (p.Tyr267His) single nucleotide variant Inborn genetic diseases [RCV002743196] Chr18:63565538 [GRCh38]
Chr18:61232771 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.142A>C (p.Ser48Arg) single nucleotide variant Inborn genetic diseases [RCV002849812] Chr18:63556301 [GRCh38]
Chr18:61223534 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.760T>A (p.Phe254Ile) single nucleotide variant Inborn genetic diseases [RCV002891316] Chr18:63565499 [GRCh38]
Chr18:61232732 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.71G>A (p.Arg24His) single nucleotide variant Inborn genetic diseases [RCV002673507] Chr18:63556230 [GRCh38]
Chr18:61223463 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.487G>A (p.Glu163Lys) single nucleotide variant Inborn genetic diseases [RCV002807785] Chr18:63561127 [GRCh38]
Chr18:61228360 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.373A>G (p.Arg125Gly) single nucleotide variant Inborn genetic diseases [RCV002919946] Chr18:63559647 [GRCh38]
Chr18:61226880 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.317A>G (p.Asn106Ser) single nucleotide variant Inborn genetic diseases [RCV002769898] Chr18:63559591 [GRCh38]
Chr18:61226824 [GRCh37]
Chr18:18q21.33
likely benign
NM_001307928.2(SERPINB12):c.797G>A (p.Arg266Lys) single nucleotide variant Inborn genetic diseases [RCV002921716] Chr18:63565536 [GRCh38]
Chr18:61232769 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.481A>C (p.Thr161Pro) single nucleotide variant Inborn genetic diseases [RCV002718797] Chr18:63561121 [GRCh38]
Chr18:61228354 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.1126G>A (p.Gly376Ser) single nucleotide variant Inborn genetic diseases [RCV003256241] Chr18:63566859 [GRCh38]
Chr18:61234092 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.731T>C (p.Met244Thr) single nucleotide variant Inborn genetic diseases [RCV003205547] Chr18:63565470 [GRCh38]
Chr18:61232703 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.785T>C (p.Ile262Thr) single nucleotide variant Inborn genetic diseases [RCV003212020] Chr18:63565524 [GRCh38]
Chr18:61232757 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.704C>T (p.Ala235Val) single nucleotide variant Inborn genetic diseases [RCV003183511] Chr18:63564119 [GRCh38]
Chr18:61231352 [GRCh37]
Chr18:18q21.33
uncertain significance
NM_001307928.2(SERPINB12):c.1061C>T (p.Ser354Phe) single nucleotide variant Inborn genetic diseases [RCV003173387] Chr18:63566794 [GRCh38]
Chr18:61234027 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:346
Count of miRNA genes:166
Interacting mature miRNAs:172
Transcripts:ENST00000269491, ENST00000382768
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.

Markers in Region
SERPINB12__5385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371861,233,841 - 61,234,438UniSTSGRCh37
Build 361859,384,821 - 59,385,418RGDNCBI36
Celera1857,954,343 - 57,954,940RGD
HuRef1857,933,672 - 57,934,269UniSTS


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 entire extraembryonic component
High
Medium 1 2 1270 2 1 80 5 3 1 682
Low 7 3 3 31 10 1 45 15 6 6 189 34 31 15 26 1
Below cutoff 544 697 277 119 301 45 915 659 706 34 462 368 81 422 682 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001307928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC036176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000269491   ⟹   ENSP00000269491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1863,542,369 - 63,569,329 (+)Ensembl
RefSeq Acc Id: ENST00000382768   ⟹   ENSP00000372218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1863,542,369 - 63,569,329 (+)Ensembl
RefSeq Acc Id: ENST00000680447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1863,562,862 - 63,567,363 (+)Ensembl
RefSeq Acc Id: NM_001307928   ⟹   NP_001294857
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,542,369 - 63,569,329 (+)NCBI
CHM1_11861,219,374 - 61,232,771 (+)NCBI
T2T-CHM13v2.01863,747,446 - 63,774,441 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080474   ⟹   NP_536722
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,556,160 - 63,569,327 (+)NCBI
GRCh371861,223,393 - 61,234,336 (+)NCBI
Build 361859,374,373 - 59,385,224 (+)NCBI Archive
Celera1857,943,890 - 57,954,746 (+)RGD
HuRef1857,923,215 - 57,934,075 (+)RGD
CHM1_11861,219,374 - 61,232,771 (+)NCBI
T2T-CHM13v2.01863,761,254 - 63,774,439 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266778   ⟹   XP_005266835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,519,110 - 63,569,329 (+)NCBI
GRCh371861,223,393 - 61,234,336 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526246   ⟹   XP_011524548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,542,369 - 63,569,329 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526248   ⟹   XP_011524550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,546,901 - 63,569,329 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526249   ⟹   XP_011524551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,549,504 - 63,569,329 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054319322   ⟹   XP_054175297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01863,724,229 - 63,774,441 (+)NCBI
RefSeq Acc Id: XM_054319323   ⟹   XP_054175298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01863,747,446 - 63,774,441 (+)NCBI
RefSeq Acc Id: XM_054319324   ⟹   XP_054175299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01863,751,981 - 63,774,441 (+)NCBI
RefSeq Acc Id: XM_054319325   ⟹   XP_054175300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01863,754,582 - 63,774,441 (+)NCBI
RefSeq Acc Id: NP_536722   ⟸   NM_080474
- Peptide Label: isoform 2
- UniProtKB: Q3SYB4 (UniProtKB/Swiss-Prot),   Q96P63 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266835   ⟸   XM_005266778
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524548   ⟸   XM_011526246
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524550   ⟸   XM_011526248
- Peptide Label: isoform X3
- UniProtKB: Q96P63 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011524551   ⟸   XM_011526249
- Peptide Label: isoform X3
- UniProtKB: Q96P63 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001294857   ⟸   NM_001307928
- Peptide Label: isoform 1
- UniProtKB: Q96P63 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000269491   ⟸   ENST00000269491
RefSeq Acc Id: ENSP00000372218   ⟸   ENST00000382768
RefSeq Acc Id: XP_054175297   ⟸   XM_054319322
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175298   ⟸   XM_054319323
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175299   ⟸   XM_054319324
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054175300   ⟸   XM_054319325
- Peptide Label: isoform X3
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96P63-F1-model_v2 AlphaFold Q96P63 1-405 view protein structure

Promoters
RGD ID:7237503
Promoter ID:EPDNEW_H24497
Type:initiation region
Name:SERPINB12_2
Description:serpin family B member 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24498  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,542,407 - 63,542,467EPDNEW
RGD ID:7237507
Promoter ID:EPDNEW_H24498
Type:multiple initiation site
Name:SERPINB12_1
Description:serpin family B member 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24497  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,546,901 - 63,546,961EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14220 AgrOrtholog
COSMIC SERPINB12 COSMIC
Ensembl Genes ENSG00000166634 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000269491 ENTREZGENE
  ENST00000269491.6 UniProtKB/Swiss-Prot
  ENST00000382768 ENTREZGENE
  ENST00000382768.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166634 GTEx
HGNC ID HGNC:14220 ENTREZGENE
Human Proteome Map SERPINB12 Human Proteome Map
InterPro Serpin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:89777 UniProtKB/Swiss-Prot
NCBI Gene 89777 ENTREZGENE
OMIM 615662 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERPIN B12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37859 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q3SYB4 ENTREZGENE
  Q3SYB5_HUMAN UniProtKB/TrEMBL
  Q96P63 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q3SYB4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINB12  serpin family B member 12    serpin peptidase inhibitor, clade B (ovalbumin), member 12  Symbol and/or name change 5135510 APPROVED