SERPINB7 |

Analyte Export to PDF
Name:	serpin family B member 7
Symbol:	SERPINB7
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	MEGSIN megsin
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00
AAGAB	97.88
ABCA12	100.00
ABCB6	100.00
ABCC6	99.97
ABHD5	100.00
ACD	100.00
ADAM10	100.00
ADAMTS2	95.82
ADAR	100.00
AIM1	100.00
AKT1	100.00
ALDH18A1	100.00
ALDH3A2	99.94
ALOX12B	100.00
ALOXE3	100.00
ANTXR1	100.00
AP1S1	100.00
AP3B1	100.00
APCDD1	99.97
AQP5	99.87
ARHGAP31	100.00
ARSL	99.95
ASAH1	100.00
ATM	100.00
ATP2A2	100.00
ATP2C1	100.00
ATP6V0A2	99.98
ATP6V1A	100.00
ATP6V1E1	99.99
ATP7A	100.00
AXIN2	100.00
B3GALT6	63.11
B4GALT7	90.91
BANF1	97.55
BCS1L	100.00
BLM	100.00
BLOC1S3	95.69
BLOC1S6	100.00
BRAF	96.86
LRMDA	100.00
KDF1	100.00
CARD14	99.96
CBL	100.00
CBS	99.92
CD151	99.99
CDH3	100.00
CDK4	100.00
CDKN1B	100.00
CDKN2A	99.69
CDSN	99.93
CERS3	100.00
CHST14	99.81
CHST8	100.00
CHUK	99.59
CLCF1	100.00
CLDN1	100.00
CLDN10	100.00
COG6	100.00
COL11A1	100.00
COL12A1	100.00
COL17A1	100.00
COL1A1	100.00
COL1A2	99.41
COL3A1	99.99
COL5A1	98.23
COL5A2	100.00
COL7A1	100.00
CREBBP	99.98
CRLF1	89.67
CSTA	100.00
CTC1	99.71
CTSC	100.00
CYLD	100.00
CYP26C1	97.30
CYP4F22	99.27
DDB2	100.00
DIP2B	99.71
DKC1	99.92
DLL4	100.00
DLX3	99.95
DNMT1	99.69
DOCK6	99.13
DOLK	100.00
DSC3	98.96
DSE	100.00
DSG1	100.00
DSG2	99.89
DSG4	100.00
DSP	100.00
DST	100.00
DTNBP1	99.96
GLB1	100.00
ECM1	100.00
EDA	99.05
EDAR	100.00
EDARADD	100.00
EDN3	99.95
EDNRB	100.00
EFEMP2	100.00
ELN	99.96
ELOVL4	100.00
ENPP1	97.25
EOGT	100.00
EP300	100.00
EPG5	99.99
ERCC2	99.35
ERCC3	100.00
ERCC4	99.99
ERCC5	100.00
ERCC6	100.00
ERCC8	100.00
EVC	94.53
EVC2	98.69
EXPH5	100.00
F12	99.81
FAM111B	100.00
RETREG1	93.87
FAM83G	100.00
FBLN5	100.00
FBN1	100.00
FBN2	100.00
FERMT1	99.96
FGFR2	100.00
FGFR3	99.36
FH	100.00
FKBP14	100.00
FLCN	100.00
FGFR1	100.00
FLG2	100.00
FOXN1	100.00
FZD6	100.00
GALNT3	100.00
GAN	98.95
GBA1	100.00
GGCX	99.91
GHR	99.21
GJA1	100.00
GJB2	100.00
GJB3	100.00
GJB4	100.00
GJB6	100.00
GLA	100.00
GNAS	100.00
GORAB	100.00
GPR143	89.17
GRHL2	100.00
GSN	97.95
GTF2E2	100.00
GTF2H5	100.00
HAMP	100.00
HCCS	100.00
HDAC8	99.82
HFE	100.00
HJV	100.00
HGD	100.00
HLCS	100.00
HOXC13	96.56
HPGD	99.87
HPS1	100.00
HPS3	99.99
HPS4	99.99
HPS5	100.00
HPS6	96.32
HR	99.78
HRAS	100.00
IFT122	99.99
IFT43	100.00
ELP1	100.00
IKBKG	96.27
IL31RA	100.00
INSR	96.81
ITGA3	99.99
ITGA6	100.00
ITGB4	98.77
JUP	100.00
KANK2	99.99
KCNH1	100.00
KCTD1	100.00
KDM6A	99.63
KDSR	99.98
KIF1A	99.07
KIT	99.98
KITLG	100.00
KL	96.52
KLHL24	100.00
KLLN	100.00
KMT2D	99.99
KRAS	100.00
KREMEN1	92.10
KRT1	99.80
KRT10	99.93
KRT14	100.00
KRT16	99.48
KRT17	92.10
KRT2	100.00
KRT5	100.00
KRT6A	100.00
KRT6B	100.00
KRT6C	99.44
KRT71	99.95
KRT74	99.99
KRT81	100.00
KRT83	99.99
KRT85	99.27
KRT86	99.98
KRT9	100.00
LAMA4	99.75
LAMB3	100.00
LAMC2	99.43
LEMD3	99.97
LIPH	100.00
LIPN	100.00
LMNA	99.52
LMX1B	99.55
LORICRIN	100.00
LPAR6	100.00
LRP1	100.00
LTBP4	99.49
LYST	100.00
LZTR1	99.92
MAP2K1	100.00
MAP2K2	99.99
MAPRE2	100.00
MBTPS2	100.00
MC1R	100.00
MEN1	99.83
MITF	100.00
MLH1	99.99
MLPH	100.00
MMP1	99.99
MMP2	99.93
MPDU1	100.00
MPLKIP	100.00
MSH2	100.00
MSH6	99.92
MSMO1	100.00
MSX1	99.53
MUTYH	100.00
MYO5A	99.78
NF1	98.85
NF2	99.97
NFKBIA	99.97
NGF	100.00
NHP2	100.00
NIPAL4	100.00
NIPBL	99.62
RMRP	100.00
NOP10	100.00
NOTCH1	98.81
NRAS	100.00
NSDHL	100.00
NTRK1	98.91
OCA2	99.73
OFD1	97.68
ORAI1	93.55
OSMR	100.00
PADI3	100.00
PARN	100.00
PAX3	100.00
PDGFRB	100.00
PEX7	96.12
PHYH	99.87
PIGL	100.00
PIK3CA	100.00
PKP1	100.00
PLCD1	99.74
PLEC	99.33
PLOD1	98.77
PLOD3	99.97
PMS2	98.83
PNPLA1	99.66
POFUT1	99.99
POGLUT1	100.00
POLD1	99.84
POLH	100.00
NT5C3A	100.00
PORCN	99.13
PPP1CB	100.00
PRDM12	83.27
PRDM5	100.00
PRKAR1A	100.00
PRKD1	97.12
PSAT1	99.73
PSENEN	100.00
PTCH1	99.03
PTCH2	100.00
PTDSS1	100.00
PTEN	99.64
PTPN11	94.81
NECTIN1	99.68
NECTIN4	99.41
PYCR1	100.00
RAB27A	100.00
RAD21	100.00
RAF1	100.00
RASA2	99.74
RBPJ	99.69
RECQL4	96.90
RET	96.88
RHBDF2	100.00
RIN2	100.00
RIPK4	99.98
RIT1	100.00
RNF113A	100.00
RPL21	84.30
RRAS	98.63
RSPO1	100.00
RTEL1	100.00
SASH1	99.88
SCN11A	99.99
SCN9A	99.99
SDHB	99.35
SDHD	99.95
SEC23B	100.00
SERPINB7	100.00
SERPINB8	100.00
SERPING1	97.68
SETBP1	100.00
SGPL1	100.00
SHOC2	100.00
HHAT	93.18
SKIC2	100.00
SLC24A5	100.00
SLC27A4	99.97
SLC29A3	95.73
SLC2A10	97.06
SLC39A13	100.00
SLC39A4	100.00
SLC45A2	100.00
SLC6A19	99.99
SLURP1	100.00
SMAD3	100.00
SMARCAD1	99.97
SMARCB1	100.00
SMC3	100.00
SMPD1	100.00
SNAI2	100.00
SNAP29	100.00
SNRPE	99.04
SOS1	100.00
SOS2	99.97
SOX10	97.31
SPINK5	100.00
SPRED1	100.00
SPRY1	100.00
SPTLC1	99.44
SRD5A3	98.97
ST14	99.95
STK11	99.81
STS	99.94
SUFU	100.00
SULT2B1	100.00
SUMF1	100.00
TAT	100.00
TCHH	100.00
TERT	93.51
TFR2	100.00
TGFB2	99.97
TGFB3	100.00
TGFBR1	91.97
TGFBR2	100.00
TGM1	100.00
TGM3	100.00
TGM5	100.00
TINF2	99.96
TMC6	99.87
TNXB	100.00
TP63	100.00
TRPS1	100.00
TRPV3	99.99
TSC1	100.00
TSC2	99.99
SKIC3	99.99
TUBB	100.00
TWIST2	99.15
TYR	100.00
TYRP1	100.00
UBR1	100.00
USB1	100.00
UVSSA	100.00
VPS33B	100.00
WDR19	100.00
WDR35	100.00
WNK1	100.00
WNT10A	94.15
WRAP53	100.00
WRN	100.00
XPA	97.89
XPC	100.00
ZMPSTE24	100.00
ZNF469	99.97
ZNF750	100.00
TERC	100.00	t

Ichthyosis and erythroderma (100 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCA12	95.00	NM_173076.3
ABHD5	95.00	NM_016006.6
ADAM17	95.00	NM_003183.6
ALDH3A2	95.00	NM_000382.3
ALOX12B	95.00	NM_001139.3
ALOXE3	95.00	NM_021628.3
AP1B1	95.00	NM_001127.4
AP1S1	95.00	NM_001283.5
ASPRV1	95.00	NM_152792.4
ASS1	95.00	NM_000050.4
ATP7A	95.00	NM_000052.7
BCKDHA	95.00	NM_000709.4
BCKDHB	95.00	NM_183050.4
BTD	95.00	NM_001370658.1
BTK	95.00	NM_000061.3
CAPN12	95.00	NM_144691.4
CARD14	95.00	NM_024110.4
CASP14	95.00	NM_012114.3
CAST	95.00	NM_001042440.5
CDSN	95.00	NM_001264.5
CERS3	95.00	NM_178842.5
CHST8	95.00	NM_001127896.2
CLDN1	95.00	NM_021101.5
CPS1	95.00	NM_001875.5
CSTA	95.00	NM_005213.4
CTSB	95.00	NM_001908.5
CYP4F22	95.00	NM_173483.4
DBT	95.00	NM_001918.5
DCLRE1C	95.00	NM_001033855.3
DLD	95.00	NM_000108.5
DSG1	95.00	NM_001942.4
EBP	95.00	NM_006579.3
ELOVL1	95.00	NM_001256399.2
ELOVL4	95.00	NM_022726.4
ERCC2	95.00	NM_000400.4
ERCC3	95.00	NM_000122.2
FLG	95.00	NM_002016.2
FLG2	95.00	NM_001014342.3
GBA1	95.00	NM_001005741.3
GJA1	95.00	NM_000165.5
GJB2	95.00	NM_004004.6
GJB3	95.00	NM_024009.3
GJB4	95.00	NM_153212.3
GJB6	95.00	NM_006783.5
GTF2E2	95.00	NM_002095.6
GTF2H5	95.00	NM_207118.3
HLCS	95.00	NM_000411.8
IL36RN	95.00	NM_012275.3
KDSR	95.00	NM_002035.4
KIT	95.00	NM_000222.3
KRT1	95.00	NM_006121.4
KRT10	95.00	NM_000421.5
KRT14	95.00	NM_000526.5
KRT16	95.00	NM_005557.4
KRT2	95.00	NM_000423.3
KRT5	95.00	NM_000424.4
KRT6C	95.00	NM_173086.5
KRT83	95.00	NM_002282.3
KRT9	95.00	NM_000226.4
LIPN	95.00	NM_001102469.2
LORICRIN	95.00	NM_000427.3
MBTPS2	95.00	NM_015884.4
MPLKIP	95.00	NM_138701.4
MMUT	95.00	NM_000255.4
NIPAL4	95.00	NM_001099287.2
NSDHL	95.00	NM_015922.3
PCCA	95.00	NM_000282.4
PCCB	95.00	NM_000532.5
PERP	95.00	NM_022121.5
PEX7	95.00	NM_000288.4
PHYH	95.00	NM_006214.4
PIGL	95.00	NM_004278.4
PNPLA1	95.00	NM_001145717.1
POMP	95.00	NM_015932.6
RAG1	95.00	NM_000448.3
RAG2	95.00	NM_000536.4
RNF113A	95.00	NM_006978.3
SDR9C7	95.00	NM_148897.3
SERPINB7	95.00	NM_003784.4
SERPINB8	95.00	NM_198833.2
SGPL1	95.00	NM_003901.4
SLC25A13	95.00	NM_014251.3
SLC27A4	95.00	NM_005094.4
SLC30A2	95.00	NM_001004434.3
SLC39A4	95.00	NM_130849.4
SNAP29	95.00	NM_004782.4
SPINK5	95.00	NM_006846.4
SREBF1	95.00	NM_004176.5
ST14	95.00	NM_021978.4
STS	95.00	NM_000351.7
SULT2B1	95.00	NM_177973.2
SUMF1	95.00	NM_182760.4
TBX1	95.00	NM_080647.1
TGM1	95.00	NM_000359.3
TGM5	95.00	NM_201631.4
TRPM4	95.00	NM_017636.4
VIPAS39	95.00	NM_022067.4
VPS33B	95.00	NM_018668.5
KLK11	95.00	NM_001136032.3
TUFT1	95.00	TUFT1

Skin disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AAGAB	100.00	1
ABCA12	99.94	1
ABCB6	99.97	1
ABHD5	99.98	1
ADAM10	99.88	1
ADAR	99.84	1
ADGRE2	98.77	1
ALDH3A2	99.95	1
ALOX12B	100.00	1
ALOXE3	99.98	1
ALX4	100.00	1
ANTXR1	99.83	1
ANTXR2	99.67	1
AP1S1	99.49	1
AP3B1	99.89	1
AP3D1	100.00	1
APCDD1	99.99	1
AQP5	99.88	1
ARHGAP31	100.00	1
ARSL	99.93	1
ATP2A2	99.98	1
ATP6V1B2	99.99	1
ATP7A	99.87	1
AXIN2	100.00	1
BANF1	99.84	1
BCS1L	99.99	1
BLM	99.80	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BMS1	85.80	1
BRAF	99.78	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C5	99.92	1
CARD11	99.97	1
CARD14	99.99	1
CASP10	99.85	1
CASP14	99.86	1
CASP8	99.92	1
CAST	99.94	1
CBL	99.95	1
CD151	100.00	1
CDH1	99.98	1
CDH3	99.98	1
CDKN1B	100.00	1
CDKN1C	100.00	1
CDSN	99.94	1
CERS3	99.85	1
CHST8	100.00	1
CHUK	99.83	1
CLDN1	99.99	1
CLDN10	99.97	1
COG6	99.86	1
COL17A1	99.98	1
COL18A1	99.99	1
COL7A1	99.99	1
COX7B	99.86	1
CYP11B1	100.00	1
CSTB	99.99	1
CSTA	99.83	1
CTLA4	99.99	1
CTSC	99.97	1
CYLD	99.46	1
CYP11A1	99.99	1
CYP21A2	99.85	1
CYP26C1	99.92	1
CYP4F22	99.97	1
DCAF17	99.84	1
DCLRE1C	99.79	1
DCPS	99.98	1
DDB2	100.00	1
DHCR24	99.93	1
DIP2B	99.65	1
DKC1	99.59	1
DLL4	100.00	1
DOCK6	100.00	1
DOCK8	99.86	1
DPH1	100.00	1
DSC3	99.73	1
DSG1	99.35	1
DSG3	99.97	1
DSG4	99.91	1
DSP	100.00	1
DST	99.52	1
DSTYK	99.83	1
DTNBP1	99.89	1
GLB1	99.92	1
EDA	99.44	1
EDAR	99.89	1
EDARADD	99.98	1
EDN3	100.00	1
EDNRA	99.97	1
EDNRB	99.99	1
ELOVL4	99.91	1
ENPP1	99.88	1
EOGT	99.09	1
EPG5	99.95	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC4	99.92	1
ERCC5	99.99	1
ERCC6	99.60	1
ERCC8	99.79	1
EVC	99.95	1
EVC2	99.97	1
EXPH5	99.81	1
F12	99.99	1
FAM111B	99.98	1
FAS	99.99	1
FASLG	99.84	1
FECH	99.98	1
FERMT1	99.90	1
FGFR1	98.88	1
FGFR3	100.00	1
FOXN1	99.97	1
FZD6	99.95	1
GBA1	96.92	1
GINS1	99.99	1
GJA1	100.00	1
GJB2	100.00	1
GJB3	99.99	1
GJB4	100.00	1
GJB6	100.00	1
GPR143	99.60	1
GREM2	100.00	1
GRHL2	100.00	1
GRIN2B	99.99	1
GTF2E2	100.00	1
GTF2H5	100.00	1
HCCS	99.90	1
HOXC13	99.98	1
HPGD	99.98	1
HPS1	100.00	1
HPS3	99.91	1
HPS4	99.98	1
HPS5	99.91	1
HPS6	100.00	1
HR	99.95	1
HRAS	100.00	1
HSPA9	99.96	1
IFT122	99.98	1
IFT43	99.97	1
IKBKG	57.34	1
IL2RA	99.99	1
IL31RA	100.00	1
ITGA3	99.86	1
ITGA6	99.78	1
ITGB4	99.99	1
ITPR2	99.13	1
JUP	99.94	1
KCNH1	99.92	1
KCTD1	99.99	1
KDF1	99.86	1
KDSR	99.99	1
KEAP1	100.00	1
KIT	99.86	1
KITLG	99.46	1
KLHL24	99.90	1
KRAS	99.13	1
KREMEN1	99.88	1
KRT1	99.89	1
KRT10	100.00	1
KRT13	99.98	1
KRT14	99.99	1
KRT16	100.00	1
KRT17	100.00	1
KRT2	99.88	1
KRT3	99.89	1
KRT5	99.98	1
KRT6A	100.00	1
KRT6B	99.95	1
KRT6C	96.59	1
KRT7	99.87	1
KRT74	99.92	1
KRT83	100.00	1
KRT85	99.97	1
KRT9	100.00	1
LAMA4	99.90	1
LAMB3	99.99	1
LAMC2	99.54	1
LBR	99.66	1
LIPH	99.99	1
LIPN	99.94	1
LMNA	99.96	1
LMNB2	99.99	1
LORICRIN	100.00	1
LPAR6	99.99	1
LRMDA	99.87	1
LRP1	99.94	1
LYST	99.87	1
LZTR1	99.46	1
MBTPS2	99.81	1
MC1R	100.00	1
MC2R	100.00	1
MC4R	100.00	1
MCM4	99.96	1
MEN1	99.98	1
MITF	99.98	1
MLPH	100.00	1
MMP1	99.99	1
MPDU1	99.97	1
MPLKIP	99.99	1
MSX1	100.00	1
MYO5A	99.94	1
NECTIN1	99.99	1
NECTIN4	99.97	1
NF1	99.88	1
NFKBIA	99.99	1
NIPAL4	100.00	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NNT	99.87	1
NOP10	99.99	1
NOTCH1	99.98	1
NR5A1	99.92	1
NRAS	99.66	1
NSDHL	99.87	1
OCA2	99.60	1
OSMR	99.95	1
PADI3	99.35	1
PAX3	100.00	1
PAX6	99.95	1
PDGFRB	99.99	1
PEPD	99.98	1
PEX7	99.72	1
PGM3	99.94	1
PHGDH	99.79	1
PHYH	100.00	1
PIEZO1	99.98	1
PIGL	99.98	1
PIGT	99.95	1
PKP1	99.98	1
PLCD1	99.98	1
PLCG2	99.99	1
PLEC	100.00	1
PMVK	99.60	1
PNPLA1	99.98	1
PNPLA2	100.00	1
PNPLA6	99.99	1
POFUT1	100.00	1
POGLUT1	99.99	1
POLA1	99.57	1
POLH	99.85	1
POMC	99.99	1
NT5C3A	99.95	1
PORCN	99.93	1
HCRT	99.85	1
PRKCD	99.96	1
PRKD1	99.96	1
PSAT1	99.98	1
PSENEN	100.00	1
PSMB8	99.96	1
PTCH1	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
PTPRF	99.92	1
RAB27A	99.94	1
RAD50	99.75	1
RAF1	99.97	1
RAG1	100.00	1
RAG2	100.00	1
RBM28	99.99	1
RBPJ	99.96	1
RECQL4	100.00	1
RET	99.97	1
RHBDF2	99.95	1
RIN2	99.99	1
RIT1	99.78	1
RMRP	100.00	1
RSPO1	99.99	1
SCN9A	99.83	1
SDR9C7	99.99	1
SERPINB7	99.93	1
SERPINB8	99.98	1
SERPING1	100.00	1
SGPL1	99.95	1
SHOC2	99.96	1
SLC24A5	99.99	1
SLC27A4	100.00	1
SLC29A3	99.98	1
SLC39A4	100.00	1
SLC45A2	100.00	1
SLURP1	100.00	1
SMARCA2	99.95	1
SMARCAD1	99.86	1
SNAI2	100.00	1
SNAP29	99.85	1
SNRPE	99.26	1
SOS1	99.68	1
SOS2	99.39	1
SOX10	100.00	1
SOX18	100.00	1
SPINK5	99.91	1
SPINT1	100.00	1
SPRED1	99.99	1
SRD5A3	99.94	1
ST14	100.00	1
ST3GAL5	99.96	1
STAT3	99.97	1
STIM1	99.99	1
STK11	100.00	1
STS	99.81	1
SULT2B1	99.92	1
SUMF1	99.95	1
TAT	99.99	1
TCHH	99.94	1
TERC	98.59	1
TGM1	99.82	1
TGM3	100.00	1
TGM5	100.00	1
TINF2	100.00	1
TP63	99.97	1
TRPM1	99.96	1
TRPS1	100.00	1
TRPV3	99.90	1
TWIST2	100.00	1
TXNRD2	99.97	1
TYRP1	99.97	1
UBR1	99.93	1
UROD	99.32	1
UROS	100.00	1
USB1	89.62	1
VCX	96.04	1
VCX3A	85.19	1
WDR19	99.80	1
WDR35	99.92	1
WNT10A	100.00	1
XPA	99.68	1
XPC	99.98	1
ZMPSTE24	98.70	1