- Analytes
- SPIDR
SPIDR
Name: |
scaffold protein involved in DNA repair
|
Symbol: |
SPIDR
|
Version of Orphanet: |
2023-06-22 14:14:43
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
-
Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 99.98 1 AKR1C2 91.19 1 AKR1C4 100.00 1 AMH 100.00 1 AMHR2 99.96 1 ANOS1 99.96 1 AR 99.76 1 ARX 95.36 1 ATRX 99.44 1 AXL 99.97 1 BMP15 99.98 1 BMP4 100.00 1 BNC1 100.00 1 CBX2 100.00 1 CHD7 99.99 1 CLPP 99.99 1 CREBBP 99.97 1 CYB5A 99.98 1 CYP11A1 99.99 1 CYP11B1 100.00 1 CYP17A1 100.00 1 CYP19A1 99.99 1 CYP21A2 99.85 1 DHCR7 99.97 1 DHH 100.00 1 DHX37 99.98 1 DMRT1 99.99 1 DMXL2 99.86 1 DUSP6 99.99 1 EIF4ENIF1 100.00 1 EP300 99.97 1 ESR1 100.00 1 ESR2 99.96 1 FANCM 99.83 1 FEZF1 100.00 1 FGF17 99.81 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FIGLA 99.95 1 FLRT3 100.00 1 FOXL2 99.97 1 FSHB 100.00 1 FSHR 99.99 1 GATA4 99.99 1 GDF9 99.98 1 GNRH1 99.96 1 GNRHR 99.94 1 HDAC8 99.74 1 HESX1 99.77 1 HFM1 89.74 1 HHAT 99.93 1 HOXA13 99.94 1 HS6ST1 99.99 1 HSD17B3 99.77 1 HSD17B4 99.71 1 HSD3B2 100.00 1 IL17RD 99.94 1 INSL3 98.02 1 KHDRBS1 99.35 1 KISS1 99.97 1 KISS1R 100.00 1 LARS2 99.96 1 LEP 100.00 1 LEPR 92.52 1 LHB 99.93 1 LHCGR 99.94 1 LHX1 99.96 1 LHX3 99.99 1 LHX4 99.99 1 MAMLD1 99.84 1 MAP3K1 99.93 1 MCM8 98.78 1 MCM9 99.76 1 MEIOB 99.98 1 MID1 99.90 1 MRPS22 99.87 1 MSH4 89.29 1 MSH5 100.00 1 NANOS3 100.00 1 NBN 99.93 1 NOBOX 99.95 1 NR0B1 99.98 1 NR2F2 100.00 1 NR5A1 99.92 1 NSMF 100.00 1 NUP107 97.46 1 OTUD4 99.83 1 PATL2 99.99 1 PCSK1 99.99 1 PNPLA6 99.99 1 POF1B 99.34 1 POLR2C 99.99 1 POLR3A 99.97 1 PORCN 99.98 1 PROK2 98.65 1 PROKR2 100.00 1 PROP1 99.88 1 PSMC3IP 99.82 1 RNF216 99.99 1 RSPO1 99.99 1 RXFP2 99.99 1 SEMA3A 99.42 1 SEMA7A 99.90 1 SOHLH1 100.00 1 SOHLH2 100.00 1 SOX10 100.00 1 SOX2 100.00 1 SOX3 100.00 1 SOX8 99.99 1 SOX9 100.00 1 SPIDR 99.96 1 SPRY4 100.00 1 SRD5A2 100.00 1 SRY 51.98 1 STAG3 98.99 1 GUCY2C 99.97 1 SYCE1 99.99 1 TAC3 99.94 1 TACR3 99.99 1 TP63 99.97 1 TSPYL1 100.00 1 TWNK 100.00 1 WDR11 99.91 1 WNT4 99.94 1 WT1 99.99 1 WWOX 100.00 1 ZFPM2 100.00 1 ZNRF3 99.94 1