Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10531035 | PMID:10531037 | PMID:10828603 | PMID:10945468 | PMID:12477932 | PMID:15489334 | PMID:16344560 | PMID:17207965 | PMID:17463251 | PMID:19028597 | PMID:20360068 | PMID:21873635 |
PMID:22268729 | PMID:22939624 | PMID:22975506 | PMID:23453757 | PMID:23503662 | PMID:23616524 | PMID:24085301 | PMID:25158072 | PMID:25756610 | PMID:26186194 | PMID:26243628 | PMID:27529127 |
PMID:27565346 | PMID:27840026 | PMID:28514442 | PMID:28614300 | PMID:28749470 | PMID:29103612 | PMID:30481285 | PMID:30594330 | PMID:30596474 | PMID:31155351 | PMID:32296183 | PMID:32350066 |
PMID:32937135 | PMID:33961781 | PMID:33962073 |
FBXL3 (Homo sapiens - human) |
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Fbxl3 (Mus musculus - house mouse) |
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Fbxl3 (Rattus norvegicus - Norway rat) |
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Fbxl3 (Chinchilla lanigera - long-tailed chinchilla) |
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FBXL3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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FBXL3 (Canis lupus familiaris - dog) |
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Fbxl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FBXL3 (Sus scrofa - pig) |
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FBXL3 (Chlorocebus sabaeus - green monkey) |
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Fbxl3 (Heterocephalus glaber - naked mole-rat) |
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Variants in FBXL3
13 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 | copy number gain | See cases [RCV001353184] | Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | See cases [RCV000050293] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 | copy number loss | See cases [RCV000050891] | Chr13:44967523..92738168 [GRCh38] Chr13:45541658..93390421 [GRCh37] Chr13:44439658..92188422 [NCBI36] Chr13:13q14.12-31.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 | copy number gain | See cases [RCV000053737] | Chr13:30318913..83610426 [GRCh38] Chr13:30893050..84184561 [GRCh37] Chr13:29791050..83082562 [NCBI36] Chr13:13q12.3-31.1 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 | copy number gain | See cases [RCV000053762] | Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 | copy number gain | See cases [RCV000053764] | Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 | copy number gain | See cases [RCV000053767] | Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34 |
pathogenic |
GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768] | Chr13:71509212..82146085 [GRCh38] Chr13:72083344..82720220 [GRCh37] Chr13:70981345..81618221 [NCBI36] Chr13:13q21.33-31.1 |
pathogenic |
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 | copy number gain | See cases [RCV000053770] | Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34 |
pathogenic |
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 | copy number gain | See cases [RCV000133944] | Chr13:41288493..85137552 [GRCh38] Chr13:41862629..85711687 [GRCh37] Chr13:40760629..84609688 [NCBI36] Chr13:13q14.11-31.1 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 | copy number loss | See cases [RCV000134874] | Chr13:66320998..87855429 [GRCh38] Chr13:66895130..88507684 [GRCh37] Chr13:65793131..87305685 [NCBI36] Chr13:13q21.32-31.2 |
pathogenic |
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 | copy number loss | See cases [RCV000134951] | Chr13:60536344..84553188 [GRCh38] Chr13:61110478..85127323 [GRCh37] Chr13:60008479..84025324 [NCBI36] Chr13:13q21.2-31.1 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 | copy number loss | See cases [RCV000136526] | Chr13:41143820..85137552 [GRCh38] Chr13:41717956..85711687 [GRCh37] Chr13:40615956..84609688 [NCBI36] Chr13:13q14.11-31.1 |
pathogenic |
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 | copy number loss | See cases [RCV000136647] | Chr13:47117587..84300935 [GRCh38] Chr13:47691722..84875070 [GRCh37] Chr13:46589723..83773071 [NCBI36] Chr13:13q14.2-31.1 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 | copy number loss | See cases [RCV000137893] | Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 | copy number gain | See cases [RCV000138339] | Chr13:32531486..86757044 [GRCh38] Chr13:33105623..87409299 [GRCh37] Chr13:32003623..86207300 [NCBI36] Chr13:13q13.1-31.1 |
pathogenic |
GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 | copy number loss | See cases [RCV000138575] | Chr13:72681540..79638468 [GRCh38] Chr13:73255678..80212603 [GRCh37] Chr13:72153679..79110604 [NCBI36] Chr13:13q21.33-31.1 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1 | copy number loss | See cases [RCV000141902] | Chr13:76530209..78531570 [GRCh38] Chr13:77104344..79105705 [GRCh37] Chr13:76002345..78003706 [NCBI36] Chr13:13q22.2-31.1 |
pathogenic|uncertain significance |
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 | copy number loss | See cases [RCV000141460] | Chr13:63713365..79638415 [GRCh38] Chr13:64287498..80212550 [GRCh37] Chr13:63185499..79110551 [NCBI36] Chr13:13q21.31-31.1 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | See cases [RCV000148244] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1 | copy number loss | See cases [RCV000240205] | Chr13:72013791..88021559 [GRCh37] Chr13:13q21.33-31.2 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 | copy number loss | See cases [RCV000598789] | Chr13:74459395..93481294 [GRCh37] Chr13:13q22.1-31.3 |
pathogenic |
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 | copy number loss | See cases [RCV000449272] | Chr13:53551300..109850651 [GRCh37] Chr13:13q14.3-33.3 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 | copy number gain | See cases [RCV000449118] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q22.3-31.1(chr13:77455170-81099829)x1 | copy number loss | See cases [RCV000447604] | Chr13:77455170..81099829 [GRCh37] Chr13:13q22.3-31.1 |
pathogenic |
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 | copy number loss | See cases [RCV000446747] | Chr13:42457841..91796698 [GRCh37] Chr13:13q14.11-31.3 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) | copy number gain | See cases [RCV000510722] | Chr13:56431743..115107733 [GRCh37] Chr13:13q21.1-34 |
pathogenic |
GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 | copy number loss | See cases [RCV000448053] | Chr13:72174742..82221361 [GRCh37] Chr13:13q21.33-31.1 |
pathogenic |
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1 | copy number loss | See cases [RCV000448229] | Chr13:61686543..83302092 [GRCh37] Chr13:13q21.2-31.1 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 | copy number gain | See cases [RCV000510281] | Chr13:71871468..115107733 [GRCh37] Chr13:13q21.33-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_012158.4(FBXL3):c.776T>C (p.Val259Ala) | single nucleotide variant | Inborn genetic diseases [RCV003300135] | Chr13:77007656 [GRCh38] Chr13:77581791 [GRCh37] Chr13:13q22.3 |
uncertain significance |
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 | copy number gain | See cases [RCV000512571] | Chr13:53932358..96586363 [GRCh37] Chr13:13q14.3-32.1 |
pathogenic |
GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1 | copy number loss | not provided [RCV000683568] | Chr13:76942604..90660121 [GRCh37] Chr13:13q22.2-31.3 |
pathogenic |
NC_000013.11:g.46968080_87381985del40413906 | deletion | Chromosome 13q14 deletion syndrome [RCV000721955] | Chr13:46968080..87381985 [GRCh38] Chr13:13q14.2-31.2 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 | copy number loss | not provided [RCV000750731] | Chr13:57058434..94684615 [GRCh37] Chr13:13q21.1-31.3 |
pathogenic |
NM_012158.4(FBXL3):c.445C>T (p.Arg149Ter) | single nucleotide variant | Intellectual disability, short stature, facial anomalies, and joint dislocations [RCV000767371] | Chr13:77018626 [GRCh38] Chr13:77592761 [GRCh37] Chr13:13q22.3 |
pathogenic |
NM_012158.4(FBXL3):c.1072T>C (p.Cys358Arg) | single nucleotide variant | Intellectual disability, short stature, facial anomalies, and joint dislocations [RCV000767373] | Chr13:77007360 [GRCh38] Chr13:77581495 [GRCh37] Chr13:13q22.3 |
pathogenic |
NM_012158.4(FBXL3):c.884del (p.Leu295fs) | deletion | Intellectual disability, short stature, facial anomalies, and joint dislocations [RCV000767372] | Chr13:77007548 [GRCh38] Chr13:77581683 [GRCh37] Chr13:13q22.3 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 | copy number gain | not provided [RCV000848025] | Chr13:61775567..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
NM_012158.4(FBXL3):c.473C>T (p.Ser158Phe) | single nucleotide variant | Inborn genetic diseases [RCV003271552] | Chr13:77015579 [GRCh38] Chr13:77589714 [GRCh37] Chr13:13q22.3 |
uncertain significance |
NM_012158.4(FBXL3):c.472-10T>G | single nucleotide variant | Intellectual disability, short stature, facial anomalies, and joint dislocations [RCV001702031] | Chr13:77015590 [GRCh38] Chr13:77589725 [GRCh37] Chr13:13q22.3 |
benign |
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 | copy number loss | not provided [RCV001006567] | Chr13:53262013..115107733 [GRCh37] Chr13:13q14.3-34 |
pathogenic |
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 | copy number loss | not provided [RCV001006564] | Chr13:51512603..91631111 [GRCh37] Chr13:13q14.3-31.3 |
pathogenic |
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1 | copy number loss | not provided [RCV001006577] | Chr13:71502357..86571730 [GRCh37] Chr13:13q21.33-31.1 |
pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878) | copy number gain | Complete trisomy 13 syndrome [RCV002280659] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NC_000013.10:g.(?_77566087)_(78492734_?)del | deletion | Neuronal ceroid lipofuscinosis [RCV001387711]|not provided [RCV003120596] | Chr13:77566087..78492734 [GRCh37] Chr13:13q22.3 |
pathogenic|no classifications from unflagged records |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 | copy number gain | See cases [RCV001780076] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NM_012158.4(FBXL3):c.751C>T (p.Arg251Ter) | single nucleotide variant | Intellectual disability, short stature, facial anomalies, and joint dislocations [RCV001806231] | Chr13:77007681 [GRCh38] Chr13:77581816 [GRCh37] Chr13:13q22.3 |
pathogenic |
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 | copy number gain | not provided [RCV001829235] | Chr13:42504540..108206269 [GRCh37] Chr13:13q14.11-33.3 |
pathogenic |
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1 | copy number loss | not provided [RCV001834426] | Chr13:59574760..89410027 [GRCh37] Chr13:13q21.1-31.2 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-114981726) | copy number gain | not specified [RCV002053035] | Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) | copy number loss | not specified [RCV002053057] | Chr13:42457841..91796698 [GRCh37] Chr13:13q14.11-31.3 |
pathogenic |
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) | copy number loss | not specified [RCV002053052] | Chr13:36376204..80681753 [GRCh37] Chr13:13q13.3-31.1 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) | copy number gain | not specified [RCV002053063] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831) | copy number loss | not specified [RCV002053070] | Chr13:75574661..87784831 [GRCh37] Chr13:13q22.2-31.2 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733) | copy number gain | not specified [RCV002053036] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) | copy number loss | not specified [RCV002053064] | Chr13:61686543..83302092 [GRCh37] Chr13:13q21.2-31.1 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV001834436] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NC_000013.10:g.(?_77566087)_(78492734_?)dup | duplication | not provided [RCV001930270] | Chr13:77566087..78492734 [GRCh37] Chr13:13q22.3 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 | copy number gain | not provided [RCV002291540] | Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 | copy number gain | not provided [RCV002472537] | Chr13:75268539..115107733 [GRCh37] Chr13:13q22.1-34 |
pathogenic |
GRCh37/hg19 13q22.1-22.3(chr13:73600015-77624907)x1 | copy number loss | not provided [RCV002475822] | Chr13:73600015..77624907 [GRCh37] Chr13:13q22.1-22.3 |
uncertain significance |
NM_012158.4(FBXL3):c.446G>A (p.Arg149Gln) | single nucleotide variant | Inborn genetic diseases [RCV002910683] | Chr13:77018625 [GRCh38] Chr13:77592760 [GRCh37] Chr13:13q22.3 |
uncertain significance |
NM_012158.4(FBXL3):c.1057C>T (p.Arg353Cys) | single nucleotide variant | Inborn genetic diseases [RCV002893021] | Chr13:77007375 [GRCh38] Chr13:77581510 [GRCh37] Chr13:13q22.3 |
uncertain significance |
NM_012158.4(FBXL3):c.291G>T (p.Glu97Asp) | single nucleotide variant | Inborn genetic diseases [RCV002712350] | Chr13:77021570 [GRCh38] Chr13:77595705 [GRCh37] Chr13:13q22.3 |
uncertain significance |
NM_012158.4(FBXL3):c.434T>C (p.Ile145Thr) | single nucleotide variant | Inborn genetic diseases [RCV002674137] | Chr13:77018637 [GRCh38] Chr13:77592772 [GRCh37] Chr13:13q22.3 |
uncertain significance |
GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3 | copy number gain | See cases [RCV003445447] | Chr13:76441389..78303365 [GRCh37] Chr13:13q22.2-22.3 |
uncertain significance |
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 | copy number loss | not provided [RCV003483190] | Chr13:73132193..104595598 [GRCh37] Chr13:13q21.33-33.1 |
pathogenic |
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 | copy number gain | not provided [RCV003484901] | Chr13:73488238..115107733 [GRCh37] Chr13:13q22.1-34 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 | copy number gain | not provided [RCV003484899] | Chr13:61534068..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
NM_012158.4(FBXL3):c.387T>C (p.Asp129=) | single nucleotide variant | not provided [RCV003390377] | Chr13:77018684 [GRCh38] Chr13:77592819 [GRCh37] Chr13:13q22.3 |
likely benign |
NM_012158.4(FBXL3):c.438A>C (p.Ser146=) | single nucleotide variant | not provided [RCV003393346] | Chr13:77018633 [GRCh38] Chr13:77592768 [GRCh37] Chr13:13q22.3 |
likely benign |
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 | copy number loss | not specified [RCV003987008] | Chr13:49547974..98214905 [GRCh37] Chr13:13q14.2-32.2 |
pathogenic |
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 | copy number loss | not specified [RCV003987013] | Chr13:56450978..93582180 [GRCh37] Chr13:13q21.1-31.3 |
pathogenic |
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 | copy number loss | not specified [RCV003987009] | Chr13:64825656..103641349 [GRCh37] Chr13:13q21.31-33.1 |
pathogenic |
NM_012158.4(FBXL3):c.1096C>T (p.Leu366=) | single nucleotide variant | FBXL3-related condition [RCV003921937] | Chr13:77007336 [GRCh38] Chr13:77581471 [GRCh37] Chr13:13q22.3 |
benign |
NM_012158.4(FBXL3):c.644-9dup | duplication | FBXL3-related condition [RCV003932321] | Chr13:77007796..77007797 [GRCh38] Chr13:77581931..77581932 [GRCh37] Chr13:13q22.3 |
likely benign |
NM_012158.4(FBXL3):c.644-9del | deletion | FBXL3-related condition [RCV003959240] | Chr13:77007797 [GRCh38] Chr13:77581932 [GRCh37] Chr13:13q22.3 |
likely benign |
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. |
WI-19996 |
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RH119624 |
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A006Y41 |
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RH131875 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2396 | 2270 | 1526 | 461 | 1492 | 304 | 4150 | 1895 | 3307 | 353 | 1416 | 1575 | 170 | 1203 | 2714 | 4 | ||
Low | 43 | 718 | 200 | 163 | 456 | 161 | 207 | 302 | 427 | 65 | 44 | 38 | 5 | 1 | 1 | 74 | 2 | 2 |
Below cutoff | 3 | 3 | 1 |
RefSeq Acc Id: | ENST00000355619 ⟹ ENSP00000347834 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000417323 ⟹ ENSP00000412183 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000470210 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000472949 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000477982 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000485797 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_012158 ⟹ NP_036290 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005266336 ⟹ XP_005266393 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054374423 ⟹ XP_054230398 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054374424 ⟹ XP_054230399 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_036290 ⟸ NM_012158 |
- UniProtKB: | B2RB04 (UniProtKB/Swiss-Prot), Q9P122 (UniProtKB/Swiss-Prot), Q9UKT7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005266393 ⟸ XM_005266336 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B2RB04 (UniProtKB/Swiss-Prot), Q9P122 (UniProtKB/Swiss-Prot), Q9UKT7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000412183 ⟸ ENST00000417323 |
RefSeq Acc Id: | ENSP00000347834 ⟸ ENST00000355619 |
RefSeq Acc Id: | XP_054230399 ⟸ XM_054374424 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054230398 ⟸ XM_054374423 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9P122 (UniProtKB/Swiss-Prot), Q9UKT7 (UniProtKB/Swiss-Prot), B2RB04 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UKT7-F1-model_v2 | AlphaFold | Q9UKT7 | 1-428 | view protein structure |
RGD ID: | 6790873 | ||||||||
Promoter ID: | HG_KWN:18144 | ||||||||
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: | OTTHUMT00000045312, OTTHUMT00000045313, OTTHUMT00000045314 | ||||||||
Position: |
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RGD ID: | 7226615 | ||||||||
Promoter ID: | EPDNEW_H19052 | ||||||||
Type: | initiation region | ||||||||
Name: | FBXL3_1 | ||||||||
Description: | F-box and leucine rich repeat protein 3 | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | HGNC:13599 | AgrOrtholog |
COSMIC | FBXL3 | COSMIC |
Ensembl Genes | ENSG00000005812 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000355619 | ENTREZGENE |
ENST00000355619.10 | UniProtKB/Swiss-Prot | |
ENST00000417323.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1280.50 | UniProtKB/Swiss-Prot |
3.80.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000005812 | GTEx |
HGNC ID | HGNC:13599 | ENTREZGENE |
Human Proteome Map | FBXL3 | Human Proteome Map |
InterPro | F-box-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
F-box_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LRR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:26224 | UniProtKB/Swiss-Prot |
NCBI Gene | 26224 | ENTREZGENE |
OMIM | 605653 | OMIM |
PANTHER | ES1 PROTEIN HOMOLOG, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
F-BOX DOMAIN-CONTAINING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | F-box | UniProtKB/TrEMBL |
F-box-like | UniProtKB/Swiss-Prot | |
PharmGKB | PA28022 | PharmGKB |
SMART | FBOX | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | RNI-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF81383 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | B2RB04 | ENTREZGENE |
C9J0Y7_HUMAN | UniProtKB/TrEMBL | |
FBXL3_HUMAN | UniProtKB/Swiss-Prot | |
Q9P122 | ENTREZGENE | |
Q9UKT7 | ENTREZGENE | |
UniProt Secondary | B2RB04 | UniProtKB/Swiss-Prot |
Q9P122 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-06-14 | FBXL3 | F-box and leucine rich repeat protein 3 | F-box and leucine-rich repeat protein 3 | Symbol and/or name change | 5135510 | APPROVED | |
2011-09-01 | FBXL3 | F-box and leucine-rich repeat protein 3 | FBXL3 | F-box and leucine-rich repeat protein 3 | Symbol and/or name change | 5135510 | APPROVED |