SERPINB1 (serpin family B member 1) - Rat Genome Database

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Gene: SERPINB1 (serpin family B member 1) Homo sapiens
Analyze
Symbol: SERPINB1
Name: serpin family B member 1
RGD ID: 1314687
HGNC Page HGNC
Description: Enables peptidase inhibitor activity. Involved in negative regulation of endopeptidase activity; negative regulation of interleukin-1 beta production; and type B pancreatic cell proliferation. Located in cytoplasmic ribonucleoprotein granule and extracellular region.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anti-elastase; EI; ELANH2; epididymis luminal protein 57; epididymis secretory protein Li 27; HEL-S-27; HEL57; LEI; leukocyte elastase inhibitor; M/NEI; MNEI; monocyte/neutrophil elastase inhibitor; peptidase inhibitor 2; PI-2; PI2; protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1; serpin B1; serpin peptidase inhibitor, clade B (ovalbumin), member 1
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 Ensembl62,832,332 - 2,841,959 (-)EnsemblGRCh38hg38GRCh38
GRCh3862,832,332 - 2,842,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3762,832,566 - 2,842,097 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3662,778,732 - 2,787,080 (-)NCBINCBI36hg18NCBI36
Build 3462,778,734 - 2,787,080NCBI
Celera64,062,686 - 4,071,034 (-)NCBI
Cytogenetic Map6p25.2NCBI
HuRef62,705,973 - 2,715,695 (-)NCBIHuRef
CHM1_162,835,084 - 2,844,765 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-(N,N-hexamethylene)amiloride  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
antimony(0)  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chromium atom  (EXP)
chrysene  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cortisol  (EXP,ISO)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
dexamethasone phosphate  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ferric oxide  (ISO)
flavone  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
isobutanol  (EXP)
ketamine  (ISO)
ketoconazole  (EXP)
menadione  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nicotine  (ISO)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
quercetin  (EXP)
quinoline  (EXP)
resveratrol  (ISO)
rifampicin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
triamcinolone acetonide  (EXP,ISO)
tributylstannane  (ISO)
trichloroethene  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1286667   PMID:1376927   PMID:7578269   PMID:7654387   PMID:8125298   PMID:8530031   PMID:9630619   PMID:9858835   PMID:10924364   PMID:11747453   PMID:12114510   PMID:12189154  
PMID:12477932   PMID:12665801   PMID:14574404   PMID:14744259   PMID:15489334   PMID:15952740   PMID:16305753   PMID:16341674   PMID:16502470   PMID:16569592   PMID:19056867   PMID:19213596  
PMID:19946248   PMID:19946888   PMID:20335295   PMID:20424473   PMID:20485444   PMID:20551380   PMID:20817705   PMID:21248149   PMID:21873635   PMID:21993616   PMID:22145905   PMID:22268729  
PMID:22421620   PMID:22664934   PMID:22833565   PMID:23002442   PMID:23269243   PMID:23376485   PMID:23533145   PMID:23580065   PMID:23673989   PMID:24105272   PMID:24172014   PMID:24852194  
PMID:24968089   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26701651   PMID:26799424   PMID:26963506   PMID:26993499   PMID:27068509   PMID:27107834   PMID:27559042   PMID:28005267  
PMID:28344315   PMID:28427999   PMID:28514442   PMID:28515276   PMID:28673495   PMID:29967939   PMID:30610107   PMID:30692621   PMID:30843084   PMID:31091453   PMID:31182584   PMID:31478661  
PMID:31980649   PMID:32903749  


Genomics

Comparative Map Data
SERPINB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl62,832,332 - 2,841,959 (-)EnsemblGRCh38hg38GRCh38
GRCh3862,832,332 - 2,842,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3762,832,566 - 2,842,097 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3662,778,732 - 2,787,080 (-)NCBINCBI36hg18NCBI36
Build 3462,778,734 - 2,787,080NCBI
Celera64,062,686 - 4,071,034 (-)NCBI
Cytogenetic Map6p25.2NCBI
HuRef62,705,973 - 2,715,695 (-)NCBIHuRef
CHM1_162,835,084 - 2,844,765 (-)NCBICHM1_1
Serpinb1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391333,026,075 - 33,037,189 (-)NCBIGRCm39mm39
GRCm39 Ensembl1333,026,075 - 33,035,168 (-)Ensembl
GRCm381332,842,092 - 32,853,206 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1332,842,092 - 32,851,185 (-)EnsemblGRCm38mm10GRCm38
MGSCv371332,933,961 - 32,943,054 (-)NCBIGRCm37mm9NCBIm37
MGSCv361332,849,591 - 32,858,650 (-)NCBImm8
Celera1333,052,332 - 33,062,299 (-)NCBICelera
Cytogenetic Map13A3.2NCBI
cM Map1313.75NCBI
Serpinb1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21731,590,695 - 31,599,102 (+)NCBI
Rnor_6.0 Ensembl1732,904,119 - 32,911,495 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01732,903,089 - 32,911,498 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01734,795,295 - 34,803,704 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41737,950,875 - 37,959,284 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11737,905,219 - 37,962,230 (+)NCBI
Celera1731,153,059 - 31,161,466 (+)NCBICelera
Cytogenetic Map17p12NCBI
Serpinb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546510,541,485 - 10,550,290 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546510,541,562 - 10,551,417 (+)NCBIChiLan1.0ChiLan1.0
SERPINB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.162,758,173 - 2,766,984 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl62,758,173 - 2,766,650 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v062,655,244 - 2,664,074 (-)NCBIMhudiblu_PPA_v0panPan3
SERPINB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,147,140 - 3,151,747 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl353,147,170 - 3,153,915 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha353,154,221 - 3,162,902 (-)NCBI
ROS_Cfam_1.0353,201,536 - 3,210,182 (-)NCBI
UMICH_Zoey_3.1353,077,400 - 3,086,040 (-)NCBI
UNSW_CanFamBas_1.0353,099,914 - 3,108,812 (-)NCBI
UU_Cfam_GSD_1.0354,432,360 - 4,441,097 (-)NCBI
Serpinb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494622,694,570 - 22,703,240 (+)NCBI
SpeTri2.0NW_0049366333,917,430 - 3,926,046 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl71,684,216 - 1,692,910 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.171,684,212 - 1,693,313 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.271,783,253 - 1,792,454 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SERPINB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11769,318,919 - 69,327,733 (+)NCBI
ChlSab1.1 Ensembl1769,319,302 - 69,328,865 (+)Ensembl
Vero_WHO_p1.0NW_0236660442,771,546 - 2,781,061 (-)NCBI
Serpinb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475621,993,777 - 22,003,715 (+)NCBI

Position Markers
GDB:435254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3762,833,736 - 2,833,963UniSTSGRCh37
Build 3662,778,735 - 2,778,962RGDNCBI36
Celera64,062,689 - 4,062,916RGD
Cytogenetic Map6p25UniSTS
HuRef62,707,143 - 2,707,370UniSTS
SHGC-34164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3762,833,265 - 2,833,414UniSTSGRCh37
Build 3662,778,264 - 2,778,413RGDNCBI36
Celera64,062,218 - 4,062,367RGD
Cytogenetic Map6p25UniSTS
HuRef62,706,672 - 2,706,821UniSTS
GeneMap99-G3 RH Map628.0UniSTS
RH35877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3762,832,676 - 2,832,813UniSTSGRCh37
Build 3662,777,675 - 2,777,812RGDNCBI36
Celera64,061,629 - 4,061,766RGD
Cytogenetic Map6p25UniSTS
HuRef62,706,083 - 2,706,220UniSTS
GeneMap99-GB4 RH Map618.1UniSTS
NCBI RH Map622.7UniSTS
RH17753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3762,833,858 - 2,834,100UniSTSGRCh37
Build 3662,778,857 - 2,779,099RGDNCBI36
Celera64,062,811 - 4,063,053RGD
Cytogenetic Map6p25UniSTS
HuRef62,707,265 - 2,707,507UniSTS
GeneMap99-GB4 RH Map618.04UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1151
Count of miRNA genes:625
Interacting mature miRNAs:703
Transcripts:ENST00000380739, ENST00000460260, ENST00000468511, ENST00000476896, ENST00000490094, ENST00000537185
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 58 2 63 3 3 2 3 2 3
Medium 2423 2687 1607 509 1776 352 4123 1766 1912 405 1218 1558 168 1204 2579 4 1
Low 11 246 117 113 86 113 227 410 1810 9 232 48 4 1 206 2 1
Below cutoff 4 2 25 2 16 12 5 7 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_030666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF053630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW451326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI521531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM785367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM823453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU942473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M93056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380739   ⟹   ENSP00000370115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl62,832,332 - 2,841,863 (-)Ensembl
RefSeq Acc Id: ENST00000460260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl62,838,549 - 2,841,862 (-)Ensembl
RefSeq Acc Id: ENST00000468511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl62,833,512 - 2,837,999 (-)Ensembl
RefSeq Acc Id: ENST00000476896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl62,836,108 - 2,841,848 (-)Ensembl
RefSeq Acc Id: ENST00000490094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl62,835,856 - 2,841,959 (-)Ensembl
RefSeq Acc Id: NM_030666   ⟹   NP_109591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,832,332 - 2,841,863 (-)NCBI
GRCh3762,832,566 - 2,842,283 (-)NCBI
Build 3662,778,732 - 2,787,080 (-)NCBI Archive
HuRef62,705,973 - 2,715,695 (-)NCBI
CHM1_162,835,084 - 2,844,765 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073111
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,832,332 - 2,841,863 (-)NCBI
GRCh3762,832,566 - 2,842,283 (-)NCBI
HuRef62,705,973 - 2,715,695 (-)NCBI
CHM1_162,835,084 - 2,844,765 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073112
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,832,332 - 2,841,863 (-)NCBI
HuRef62,705,973 - 2,715,695 (-)NCBI
CHM1_162,835,084 - 2,844,765 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514333   ⟹   XP_011512635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,832,332 - 2,842,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514334   ⟹   XP_011512636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,832,332 - 2,841,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514335   ⟹   XP_011512637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,832,332 - 2,841,968 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_109591   ⟸   NM_030666
- UniProtKB: P30740 (UniProtKB/Swiss-Prot),   V9HWH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512635   ⟸   XM_011514333
- Peptide Label: isoform X1
- UniProtKB: P30740 (UniProtKB/Swiss-Prot),   V9HWH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512637   ⟸   XM_011514335
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011512636   ⟸   XM_011514334
- Peptide Label: isoform X1
- UniProtKB: P30740 (UniProtKB/Swiss-Prot),   V9HWH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000370115   ⟸   ENST00000380739
Protein Domains
SERPIN

Promoters
RGD ID:6804771
Promoter ID:HG_KWN:52111
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000039636
Position:
Human AssemblyChrPosition (strand)Source
Build 3662,783,126 - 2,783,727 (-)MPROMDB
RGD ID:6814781
Promoter ID:HG_XEF:6676
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001031642,   NM_001081947,   NM_025429,   NM_173051,   NM_173052
Position:
Human AssemblyChrPosition (strand)Source
Build 3662,785,986 - 2,786,642 (-)MPROMDB
RGD ID:6804768
Promoter ID:HG_KWN:52112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000039635,   OTTHUMT00000039637,   OTTHUMT00000039638,   OTTHUMT00000039639,   UC003MUC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3662,786,851 - 2,787,351 (-)MPROMDB
RGD ID:6852558
Promoter ID:EP74091
Type:multiple initiation site
Name:HS_SERPINB1
Description:Serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), 1mber 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3662,787,093 - 2,787,153EPD
RGD ID:6871878
Promoter ID:EPDNEW_H9104
Type:initiation region
Name:SERPINB1_1
Description:serpin family B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9105  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,841,860 - 2,841,920EPDNEW
RGD ID:6871880
Promoter ID:EPDNEW_H9105
Type:initiation region
Name:SERPINB1_2
Description:serpin family B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9104  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3862,842,001 - 2,842,061EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1 copy number loss See cases [RCV000050686] Chr6:163083..6062800 [GRCh38]
Chr6:163083..6063033 [GRCh37]
Chr6:108083..6008032 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3 copy number gain See cases [RCV000051870] Chr6:144957..5239181 [GRCh38]
Chr6:144957..5239414 [GRCh37]
Chr6:89957..5184413 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1 copy number loss See cases [RCV000052159] Chr6:107682..4978781 [GRCh38]
Chr6:107682..4979015 [GRCh37]
Chr6:52682..4924014 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:162883-5979198)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|See cases [RCV000052160] Chr6:162883..5979198 [GRCh38]
Chr6:162883..5979431 [GRCh37]
Chr6:107883..5924430 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1 copy number loss See cases [RCV000052161] Chr6:163083..5875402 [GRCh38]
Chr6:163083..5875635 [GRCh37]
Chr6:108083..5820634 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 copy number loss See cases [RCV000052163] Chr6:164633..6284237 [GRCh38]
Chr6:164633..6284470 [GRCh37]
Chr6:109633..6229469 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1 copy number loss See cases [RCV000052164] Chr6:164633..5823601 [GRCh38]
Chr6:164633..5823834 [GRCh37]
Chr6:109633..5768833 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:1796838-2854327)x3 copy number gain See cases [RCV000053338] Chr6:1796838..2854327 [GRCh38]
Chr6:1797072..2854561 [GRCh37]
Chr6:1742071..2799560 [NCBI36]
Chr6:6p25.3-25.2
uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1
pathogenic
GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3 copy number gain See cases [RCV000134886] Chr6:2380066..3313353 [GRCh38]
Chr6:2380300..3313587 [GRCh37]
Chr6:2325299..3258586 [NCBI36]
Chr6:6p25.2
uncertain significance
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1 copy number loss See cases [RCV000137496] Chr6:152634..5315679 [GRCh38]
Chr6:152634..5315912 [GRCh37]
Chr6:97634..5260911 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1 copy number loss See cases [RCV000138184] Chr6:163083..3459607 [GRCh38]
Chr6:163083..3459841 [GRCh37]
Chr6:108083..3404840 [NCBI36]
Chr6:6p25.3-25.2
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3
likely benign
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 copy number gain See cases [RCV000138716] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1
likely pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 copy number loss See cases [RCV000138717] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2
likely pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 copy number loss See cases [RCV000142299] Chr6:156974..7122759 [GRCh38]
Chr6:156974..7122992 [GRCh37]
Chr6:101974..7067991 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1 copy number loss See cases [RCV000142304] Chr6:156974..4907692 [GRCh38]
Chr6:156974..4907926 [GRCh37]
Chr6:101974..4852925 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 copy number loss See cases [RCV000142916] Chr6:152634..6289804 [GRCh38]
Chr6:152634..6290037 [GRCh37]
Chr6:97634..6235036 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3 copy number gain See cases [RCV000143375] Chr6:156974..4946857 [GRCh38]
Chr6:156974..4947091 [GRCh37]
Chr6:101974..4892090 [NCBI36]
Chr6:6p25.3-25.1
uncertain significance
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1
likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3 copy number gain Brachydactyly type E1 [RCV000234962] Chr6:255350..3189972 [GRCh37]
Chr6:6p25.3-25.2
pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1
pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 copy number loss See cases [RCV000240475] Chr6:204009..6447311 [GRCh37]
Chr6:6p25.3-25.1
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1 copy number loss See cases [RCV000510370] Chr6:383951..4183288 [GRCh37]
Chr6:6p25.3-25.2
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:2209050-3009366)x3 copy number gain See cases [RCV000510705] Chr6:2209050..3009366 [GRCh37]
Chr6:6p25.3-25.2
likely benign
GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1 copy number loss See cases [RCV000511093] Chr6:156974..6417749 [GRCh37]
Chr6:6p25.3-25.1
pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1 copy number loss See cases [RCV000510749] Chr6:2109893..5962832 [GRCh37]
Chr6:6p25.3-25.1
pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1 copy number loss not provided [RCV000682627] Chr6:156974..3398920 [GRCh37]
Chr6:6p25.3-25.2
pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23
pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3
likely pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_030666.4(SERPINB1):c.245C>T (p.Ala82Val) single nucleotide variant not provided [RCV000968081] Chr6:2838610 [GRCh38]
Chr6:2838844 [GRCh37]
Chr6:6p25.2
benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_030666.4(SERPINB1):c.425-11dup duplication not provided [RCV000961142] Chr6:2836252..2836253 [GRCh38]
Chr6:2836486..2836487 [GRCh37]
Chr6:6p25.2
benign
NM_030666.4(SERPINB1):c.868C>T (p.Arg290Cys) single nucleotide variant not provided [RCV000975099] Chr6:2833880 [GRCh38]
Chr6:2834114 [GRCh37]
Chr6:6p25.2
benign
NM_030666.4(SERPINB1):c.39G>A (p.Leu13=) single nucleotide variant not provided [RCV000956358] Chr6:2840548 [GRCh38]
Chr6:2840782 [GRCh37]
Chr6:6p25.2
benign
GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3 copy number gain not provided [RCV001259379] Chr6:302183..3290583 [GRCh37]
Chr6:6p25.3-25.2
pathogenic
NC_000006.11:g.(?_2833842)_(3227777_?)dup duplication not provided [RCV001323032] Chr6:2833842..3227777 [GRCh37]
Chr6:6p25.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3311 AgrOrtholog
COSMIC SERPINB1 COSMIC
Ensembl Genes ENSG00000021355 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000370115 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380739 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000021355 GTEx
HGNC ID HGNC:3311 ENTREZGENE
Human Proteome Map SERPINB1 Human Proteome Map
InterPro Serpin_B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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:1992 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1992 ENTREZGENE
OMIM 130135 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11461:SF180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35046 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ILEU_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HWH1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K5L2 UniProtKB/Swiss-Prot
  B4DNT0 UniProtKB/Swiss-Prot
  Q53FB9 UniProtKB/Swiss-Prot
  Q5W0E1 UniProtKB/Swiss-Prot
  Q9UDF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINB1  serpin family B member 1    serpin peptidase inhibitor, clade B (ovalbumin), member 1  Symbol and/or name change 5135510 APPROVED
2012-08-21 SERPINB1  serpin peptidase inhibitor, clade B (ovalbumin), member 1  SERPINB1  serpin peptidase inhibitor, clade B (ovalbumin), member 1  Symbol and/or name change 5135510 APPROVED