Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Oocyte/Zygote/Embryo Maturation Arrest 12 | | IAGP | | 7240710 | | OMIM | | spermatogenic failure 64 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Oocyte/Zygote/Embryo Maturation Arrest 12 | | IAGP | | 7240710 | | OMIM | | spermatogenic failure 64 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:15489334 | PMID:15520277 | PMID:15753281 | PMID:16344560 | PMID:16407128 | PMID:16456547 | PMID:18550795 | PMID:21873635 | PMID:25161877 | PMID:29676528 | PMID:30021884 |
PMID:30878252 | PMID:32253818 | PMID:32296183 | PMID:34052850 | PMID:34595750 | PMID:34645483 | PMID:36710413 | PMID:37250703 |
FBXO43 (Homo sapiens - human) |
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Fbxo43 (Mus musculus - house mouse) |
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Fbxo43 (Rattus norvegicus - Norway rat) |
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Fbxo43 (Chinchilla lanigera - long-tailed chinchilla) |
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FBXO43 (Pan paniscus - bonobo/pygmy chimpanzee) |
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FBXO43 (Canis lupus familiaris - dog) |
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Fbxo43 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RGS22 (Sus scrofa - pig) |
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FBXO43 (Chlorocebus sabaeus - green monkey) |
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Variants in FBXO43
25 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3 | copy number gain | See cases [RCV000050759] | Chr8:100023254..101190270 [GRCh38] Chr8:101035482..102202498 [GRCh37] Chr8:101104658..102271674 [NCBI36] Chr8:8q22.2-22.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001029860.3(FBXO43):c.1493T>C (p.Leu498Ser) | single nucleotide variant | Malignant melanoma [RCV000068048] | Chr8:100140761 [GRCh38] Chr8:101152989 [GRCh37] Chr8:101222165 [NCBI36] Chr8:8q22.2 |
not provided |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 | copy number gain | See cases [RCV000135621] | Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 | copy number loss | See cases [RCV000137322] | Chr8:99580206..101547228 [GRCh38] Chr8:100592434..102559456 [GRCh37] Chr8:100661610..102628632 [NCBI36] Chr8:8q22.2-22.3 |
likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 | copy number gain | See cases [RCV000140447] | Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207177] | Chr8:100871620..101253185 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.706G>A (p.Asp236Asn) | single nucleotide variant | Inborn genetic diseases [RCV003267767] | Chr8:100141548 [GRCh38] Chr8:101153776 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 | copy number gain | See cases [RCV000448954] | Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 | copy number gain | See cases [RCV000511761] | Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 | copy number gain | See cases [RCV000510854] | Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_001029860.4(FBXO43):c.547G>A (p.Val183Ile) | single nucleotide variant | Inborn genetic diseases [RCV003255687] | Chr8:100141707 [GRCh38] Chr8:101153935 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.1045T>A (p.Ser349Thr) | single nucleotide variant | Inborn genetic diseases [RCV003275817] | Chr8:100141209 [GRCh38] Chr8:101153437 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001029860.4(FBXO43):c.128C>T (p.Ala43Val) | single nucleotide variant | Inborn genetic diseases [RCV003277673] | Chr8:100142126 [GRCh38] Chr8:101154354 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 | copy number loss | not provided [RCV000683023] | Chr8:100551211..103676738 [GRCh37] Chr8:8q22.2-22.3 |
pathogenic |
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 | copy number gain | not provided [RCV000683045] | Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 | copy number gain | See cases [RCV002285066] | Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
NM_001029860.4(FBXO43):c.1991G>A (p.Gly664Asp) | single nucleotide variant | Spermatogenic failure 64 [RCV001806464] | Chr8:100133938 [GRCh38] Chr8:101146166 [GRCh37] Chr8:8q22.2 |
pathogenic |
GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3 | copy number gain | not provided [RCV001006126] | Chr8:100791383..101278033 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001029860.4(FBXO43):c.1569C>G (p.Cys523Trp) | single nucleotide variant | Inborn genetic diseases [RCV003248636] | Chr8:100140685 [GRCh38] Chr8:101152913 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001029860.4(FBXO43):c.1490_1497dup (p.Glu500delinsSerTer) | duplication | Oocyte maturation defect 12 [RCV001806467] | Chr8:100140756..100140757 [GRCh38] Chr8:101152984..101152985 [GRCh37] Chr8:8q22.2 |
pathogenic |
NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter) | single nucleotide variant | Oocyte maturation defect 12 [RCV001806466]|Spermatogenic failure 64 [RCV001806465] | Chr8:100134292 [GRCh38] Chr8:101146520 [GRCh37] Chr8:8q22.2 |
pathogenic |
NM_001029860.4(FBXO43):c.154del (p.Asp52fs) | deletion | Oocyte maturation defect 12 [RCV001806468] | Chr8:100142100 [GRCh38] Chr8:101154328 [GRCh37] Chr8:8q22.2 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) | copy number gain | not specified [RCV002053772] | Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NC_000008.10:g.(?_99135566)_(106815766_?)dup | duplication | Cohen syndrome [RCV001997398] | Chr8:99135566..106815766 [GRCh37] Chr8:8q22.2-23.1 |
uncertain significance |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) | copy number gain | not provided [RCV002221452] | Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 | copy number gain | See cases [RCV002292707] | Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 | copy number gain | not provided [RCV002474526] | Chr8:79409349..119040631 [GRCh37] Chr8:8q21.12-24.11 |
pathogenic |
NM_001029860.4(FBXO43):c.682T>G (p.Ser228Ala) | single nucleotide variant | Inborn genetic diseases [RCV002968199] | Chr8:100141572 [GRCh38] Chr8:101153800 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.1049A>G (p.Asp350Gly) | single nucleotide variant | Inborn genetic diseases [RCV002906758] | Chr8:100141205 [GRCh38] Chr8:101153433 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8q22.2(chr8:100791384-101278033)x3 | copy number gain | not provided [RCV002475819] | Chr8:100791384..101278033 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.1593T>A (p.Asn531Lys) | single nucleotide variant | Inborn genetic diseases [RCV002754598] | Chr8:100137646 [GRCh38] Chr8:101149874 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.917T>C (p.Leu306Pro) | single nucleotide variant | Inborn genetic diseases [RCV002692802] | Chr8:100141337 [GRCh38] Chr8:101153565 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.2108G>A (p.Arg703Gln) | single nucleotide variant | Inborn genetic diseases [RCV003000253] | Chr8:100133821 [GRCh38] Chr8:101146049 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.26G>T (p.Arg9Ile) | single nucleotide variant | Inborn genetic diseases [RCV002747863] | Chr8:100145110 [GRCh38] Chr8:101157338 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.1411G>A (p.Asp471Asn) | single nucleotide variant | Inborn genetic diseases [RCV003210058] | Chr8:100140843 [GRCh38] Chr8:101153071 [GRCh37] Chr8:8q22.2 |
likely benign |
NM_001029860.4(FBXO43):c.314A>G (p.Tyr105Cys) | single nucleotide variant | Inborn genetic diseases [RCV003176147] | Chr8:100141940 [GRCh38] Chr8:101154168 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.1554C>G (p.Thr518=) | single nucleotide variant | not provided [RCV003327280] | Chr8:100140700 [GRCh38] Chr8:101152928 [GRCh37] Chr8:8q22.2 |
likely benign |
NM_001029860.4(FBXO43):c.1554C>T (p.Thr518=) | single nucleotide variant | not provided [RCV003334311] | Chr8:100140700 [GRCh38] Chr8:101152928 [GRCh37] Chr8:8q22.2 |
likely benign |
NM_001029860.4(FBXO43):c.1278G>C (p.Glu426Asp) | single nucleotide variant | Inborn genetic diseases [RCV003344324] | Chr8:100140976 [GRCh38] Chr8:101153204 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.1510A>G (p.Arg504Gly) | single nucleotide variant | Inborn genetic diseases [RCV003381781] | Chr8:100140744 [GRCh38] Chr8:101152972 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 | copy number gain | not provided [RCV003484742] | Chr8:79046933..102008860 [GRCh37] Chr8:8q21.12-22.3 |
pathogenic |
GRCh37/hg19 8q22.2-22.3(chr8:100446969-102315070)x1 | copy number loss | not provided [RCV003483035] | Chr8:100446969..102315070 [GRCh37] Chr8:8q22.2-22.3 |
uncertain significance |
NM_001029860.4(FBXO43):c.192C>T (p.Phe64=) | single nucleotide variant | not provided [RCV003435571] | Chr8:100142062 [GRCh38] Chr8:101154290 [GRCh37] Chr8:8q22.2 |
likely benign |
NM_001029860.4(FBXO43):c.1152G>A (p.Leu384=) | single nucleotide variant | not provided [RCV003435570] | Chr8:100141102 [GRCh38] Chr8:101153330 [GRCh37] Chr8:8q22.2 |
likely benign |
GRCh37/hg19 8q22.2(chr8:100709537-101192245)x3 | copy number gain | not specified [RCV003986772] | Chr8:100709537..101192245 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001029860.4(FBXO43):c.1675G>A (p.Gly559Arg) | single nucleotide variant | Inborn genetic diseases [RCV003378156] | Chr8:100134364 [GRCh38] Chr8:101146592 [GRCh37] Chr8:8q22.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NC_000008.10:g.(?_98358247)_(106815766_?)dup | duplication | not provided [RCV003122777] | Chr8:98358247..106815766 [GRCh37] Chr8:8q22.1-23.1 |
uncertain significance |
NM_001029860.4(FBXO43):c.1268G>A (p.Ser423Asn) | single nucleotide variant | Inborn genetic diseases [RCV003379093] | Chr8:100140986 [GRCh38] Chr8:101153214 [GRCh37] Chr8:8q22.2 |
uncertain significance |
NM_001029860.4(FBXO43):c.771T>G (p.Asn257Lys) | single nucleotide variant | Inborn genetic diseases [RCV003363623] | Chr8:100141483 [GRCh38] Chr8:101153711 [GRCh37] Chr8:8q22.2 |
uncertain significance |
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. |
D8S2278 |
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sY3084 |
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D11S2921 |
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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 | pharyngeal arch | |
High | |||||||||||||||||
Medium | 2 | 3 | 2 | 96 | 2 | 2 | 14 | 5 | 5 | 304 | 33 | 1 | |||||
Low | 151 | 57 | 411 | 144 | 749 | 137 | 584 | 57 | 397 | 124 | 512 | 440 | 16 | 49 | 189 | 1 | 1 |
Below cutoff | 2184 | 2513 | 1267 | 449 | 942 | 301 | 3485 | 1743 | 3239 | 269 | 631 | 1108 | 151 | 1084 | 2344 | 3 |
RefSeq Transcripts | NM_001029860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_036491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011516987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011516989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011516990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011516992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360343 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360345 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001745524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001745525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC021590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC025647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI198884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC028709 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC090892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG391951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA996924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB056068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB088246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000428847 ⟹ ENSP00000403293 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000517806 ⟹ ENSP00000429759 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000520987 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001029860 ⟹ NP_001025031 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_036491 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011516987 ⟹ XP_011515289 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011516990 ⟹ XP_011515292 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011516992 ⟹ XP_011515294 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017013358 ⟹ XP_016868847 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047421719 ⟹ XP_047277675 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047421720 ⟹ XP_047277676 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360343 ⟹ XP_054216318 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360344 ⟹ XP_054216319 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360345 ⟹ XP_054216320 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360346 ⟹ XP_054216321 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360347 ⟹ XP_054216322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360348 ⟹ XP_054216323 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001025031 | (Get FASTA) | NCBI Sequence Viewer |
XP_011515289 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011515292 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011515294 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016868847 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277675 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277676 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216318 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216319 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216320 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216321 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216322 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216323 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000403293 | ||
ENSP00000403293.2 | |||
ENSP00000429759.1 | |||
GenBank Protein | Q4G163 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001025031 ⟸ NM_001029860 |
- UniProtKB: | Q4G163 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011515292 ⟸ XM_011516990 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011515289 ⟸ XM_011516987 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011515294 ⟸ XM_011516992 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016868847 ⟸ XM_017013358 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | ENSP00000429759 ⟸ ENST00000517806 |
RefSeq Acc Id: | ENSP00000403293 ⟸ ENST00000428847 |
RefSeq Acc Id: | XP_047277676 ⟸ XM_047421720 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047277675 ⟸ XM_047421719 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216319 ⟸ XM_054360344 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054216318 ⟸ XM_054360343 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216322 ⟸ XM_054360347 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054216320 ⟸ XM_054360345 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216323 ⟸ XM_054360348 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054216321 ⟸ XM_054360346 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q4G163-F1-model_v2 | AlphaFold | Q4G163 | 1-708 | view protein structure |
RGD ID: | 7213883 | ||||||||
Promoter ID: | EPDNEW_H12688 | ||||||||
Type: | initiation region | ||||||||
Name: | FBXO43_1 | ||||||||
Description: | F-box protein 43 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6806758 | ||||||||
Promoter ID: | HG_KWN:61800 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001029860, NM_001077528, UC010MBP.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:28521 | AgrOrtholog |
COSMIC | FBXO43 | COSMIC |
Ensembl Genes | ENSG00000156509 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000428847 | ENTREZGENE |
ENST00000428847.3 | UniProtKB/Swiss-Prot | |
ENST00000517806 | ENTREZGENE | |
ENST00000517806.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1280.50 | UniProtKB/Swiss-Prot |
2.20.25.20 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000156509 | GTEx |
HGNC ID | HGNC:28521 | ENTREZGENE |
Human Proteome Map | FBXO43 | Human Proteome Map |
InterPro | F-box_dom | UniProtKB/Swiss-Prot |
FBX5_43 | UniProtKB/Swiss-Prot | |
IBR_dom | UniProtKB/Swiss-Prot | |
ZF_ZBR | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:286151 | UniProtKB/Swiss-Prot |
NCBI Gene | 286151 | ENTREZGENE |
OMIM | 609110 | OMIM |
PANTHER | F-BOX ONLY PROTEIN 43 | UniProtKB/Swiss-Prot |
F-BOX ONLY PROTEIN 5 AND 43 | UniProtKB/Swiss-Prot | |
Pfam | F-box | UniProtKB/Swiss-Prot |
PharmGKB | PA134913061 | PharmGKB |
PROSITE | ZF_ZBR | UniProtKB/Swiss-Prot |
SMART | IBR | UniProtKB/Swiss-Prot |
Superfamily-SCOP | RING/U-box | UniProtKB/Swiss-Prot |
UniProt | E5RHI5_HUMAN | UniProtKB/TrEMBL |
FBX43_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |