Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | OLFM4 | Human | endometriosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21048224 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | OLFM4 | Human | endometriosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21048224 | |
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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:2824652 | PMID:11302958 | PMID:11867215 | PMID:12477932 | PMID:12975309 | PMID:16344560 | PMID:16502470 | PMID:16566923 | PMID:17650212 | PMID:18281536 | PMID:18798264 | PMID:19056867 |
PMID:19199708 | PMID:19450592 | PMID:19670418 | PMID:20534456 | PMID:20724538 | PMID:20878207 | PMID:21048224 | PMID:21067260 | PMID:21270618 | PMID:21415212 | PMID:21470957 | PMID:21832049 |
PMID:21873635 | PMID:21904905 | PMID:21986994 | PMID:22011044 | PMID:22187488 | PMID:22398066 | PMID:22471589 | PMID:22484627 | PMID:22658931 | PMID:22844115 | PMID:23251661 | PMID:23376485 |
PMID:23533145 | PMID:23563607 | PMID:23570326 | PMID:23922742 | PMID:24070418 | PMID:24495253 | PMID:24529757 | PMID:24861553 | PMID:25333937 | PMID:25400027 | PMID:25416956 | PMID:25771901 |
PMID:26011333 | PMID:26070873 | PMID:26162090 | PMID:26186194 | PMID:26303970 | PMID:26398045 | PMID:26416558 | PMID:26581960 | PMID:26871282 | PMID:26973250 | PMID:27635771 | PMID:27939521 |
PMID:28012926 | PMID:28320108 | PMID:28514442 | PMID:28669815 | PMID:29488661 | PMID:30137688 | PMID:30764901 | PMID:31241767 | PMID:31318138 | PMID:31432153 | PMID:31515488 | PMID:31923206 |
PMID:31990698 | PMID:32276789 | PMID:32296183 | PMID:32457219 | PMID:33253592 | PMID:33318499 | PMID:33355521 | PMID:33570127 | PMID:33622275 | PMID:33711267 | PMID:33961781 | PMID:34496567 |
PMID:34906535 | PMID:34912753 | PMID:35156780 | PMID:35337817 | PMID:35410162 | PMID:35487976 | PMID:35806447 | PMID:36349502 | PMID:36549285 | PMID:36577836 | PMID:36949045 | PMID:37280213 |
PMID:38613883 |
OLFM4 (Homo sapiens - human) |
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Olfm4 (Mus musculus - house mouse) |
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Olfm4 (Rattus norvegicus - Norway rat) |
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Olfm4 (Chinchilla lanigera - long-tailed chinchilla) |
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OLFM4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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OLFM4 (Canis lupus familiaris - dog) |
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Olfm4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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OLFM4 (Sus scrofa - pig) |
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OLFM4 (Chlorocebus sabaeus - green monkey) |
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Olfm4 (Heterocephalus glaber - naked mole-rat) |
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Variants in OLFM4
24 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 13q12.3-21.33(chr13:30697728-69471973)x1 | copy number loss | See cases [RCV000051373] | Chr13:30697728..69471973 [GRCh38] Chr13:31271865..70046105 [GRCh37] Chr13:30169865..68944106 [NCBI36] Chr13:13q12.3-21.33 |
pathogenic |
GRCh38/hg38 13q14.3(chr13:52598879-53101818)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052007]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052007]|See cases [RCV000052007] | Chr13:52598879..53101818 [GRCh38] Chr13:53173014..53675953 [GRCh37] Chr13:52071015..52573954 [NCBI36] Chr13:13q14.3 |
uncertain significance |
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 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 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 |
NM_006418.4(OLFM4):c.1121C>T (p.Ser374Leu) | single nucleotide variant | Malignant melanoma [RCV000062688] | Chr13:53050359 [GRCh38] Chr13:53624494 [GRCh37] Chr13:52522495 [NCBI36] Chr13:13q14.3 |
not provided |
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 | copy number loss | See cases [RCV000133696] | Chr13:36777318..62955876 [GRCh38] Chr13:37351455..63530009 [GRCh37] Chr13:36249455..62428010 [NCBI36] Chr13:13q13.3-21.31 |
pathogenic |
GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3 | copy number gain | See cases [RCV000134421] | Chr13:52381559..54493354 [GRCh38] Chr13:52955694..55067489 [GRCh37] Chr13:51853695..53965490 [NCBI36] Chr13:13q14.3 |
uncertain significance |
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 13q12.3-21.32(chr13:31553608-65470367)x3 | copy number gain | See cases [RCV000135808] | Chr13:31553608..65470367 [GRCh38] Chr13:32127745..66044499 [GRCh37] Chr13:31025745..64942500 [NCBI36] Chr13:13q12.3-21.32 |
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 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 13q13.3-21.32(chr13:37864226-67963788)x1 | copy number loss | See cases [RCV000140744] | Chr13:37864226..67963788 [GRCh38] Chr13:38438363..68537920 [GRCh37] Chr13:37336363..67435921 [NCBI36] Chr13:13q13.3-21.32 |
pathogenic |
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 | copy number loss | See cases [RCV000142223] | Chr13:47765202..62058520 [GRCh38] Chr13:48339337..62632653 [GRCh37] Chr13:47237338..61530654 [NCBI36] Chr13:13q14.2-21.31 |
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 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3 | copy number gain | not provided [RCV001270648] | Chr13:52170957..57713087 [GRCh37] Chr13:13q14.3-21.1 |
uncertain significance |
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 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
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 13q13.1-21.31(chr13:32946120-62698217)x1 | copy number loss | See cases [RCV000446067] | Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
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 13q14.3(chr13:51786657-54834098)x1 | copy number loss | not provided [RCV000509218] | Chr13:51786657..54834098 [GRCh37] Chr13:13q14.3 |
not provided |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 | copy number gain | not provided [RCV000683569] | Chr13:51939350..66854666 [GRCh37] Chr13:13q14.3-21.32 |
likely pathogenic |
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 | copy number gain | not provided [RCV000683572] | Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
NC_000013.11:g.46968080_87381985del40413906 | deletion | Chromosome 13q14 deletion syndrome [RCV000721955] | Chr13:46968080..87381985 [GRCh38] Chr13:13q14.2-31.2 |
pathogenic |
Single allele | deletion | Intellectual disability [RCV000684766] | Chr13:48225451..58070399 [GRCh37] Chr13:13q14.2-21.1 |
likely 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 13q14.2-21.2(chr13:49586017-61311845)x1 | copy number loss | not provided [RCV000846575] | Chr13:49586017..61311845 [GRCh37] Chr13:13q14.2-21.2 |
uncertain significance |
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 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 | copy number loss | not provided [RCV001795546] | Chr13:45819046..63910212 [GRCh37] Chr13:13q14.13-21.31 |
pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 | copy number gain | See cases [RCV001780076] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
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 13q11-34(chr13:19436286-115107733) | copy number gain | not specified [RCV002053036] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV001834436] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
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 13q13.1-21.31(chr13:32946120-62698217) | copy number loss | not specified [RCV002053048] | Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
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 |
NM_006418.5(OLFM4):c.64T>G (p.Leu22Val) | single nucleotide variant | not specified [RCV004283723] | Chr13:53028900 [GRCh38] Chr13:53603035 [GRCh37] Chr13:13q14.3 |
uncertain significance |
GRCh37/hg19 13p13-q34(chr13:1-115169878) | copy number gain | Complete trisomy 13 syndrome [RCV002280659] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 | copy number gain | not provided [RCV002291540] | Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_006418.5(OLFM4):c.991A>G (p.Thr331Ala) | single nucleotide variant | not specified [RCV004135819] | Chr13:53050229 [GRCh38] Chr13:53624364 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.70G>C (p.Asp24His) | single nucleotide variant | not specified [RCV004149171] | Chr13:53028906 [GRCh38] Chr13:53603041 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.121G>C (p.Asp41His) | single nucleotide variant | not specified [RCV004221777] | Chr13:53028957 [GRCh38] Chr13:53603092 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.1424A>G (p.Gln475Arg) | single nucleotide variant | not specified [RCV004160649] | Chr13:53050662 [GRCh38] Chr13:53624797 [GRCh37] Chr13:13q14.3 |
likely benign |
NM_006418.5(OLFM4):c.173G>A (p.Arg58His) | single nucleotide variant | not specified [RCV004209479] | Chr13:53029009 [GRCh38] Chr13:53603144 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.622A>C (p.Asn208His) | single nucleotide variant | not specified [RCV004214349] | Chr13:53043156 [GRCh38] Chr13:53617291 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.716C>T (p.Pro239Leu) | single nucleotide variant | not specified [RCV004109436] | Chr13:53043250 [GRCh38] Chr13:53617385 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.1446C>G (p.Asn482Lys) | single nucleotide variant | not specified [RCV004175915] | Chr13:53050684 [GRCh38] Chr13:53624819 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.292A>G (p.Arg98Gly) | single nucleotide variant | not specified [RCV004188569] | Chr13:53034435 [GRCh38] Chr13:53608570 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.400C>G (p.Leu134Val) | single nucleotide variant | not specified [RCV004201436] | Chr13:53041952 [GRCh38] Chr13:53616087 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.302G>A (p.Arg101His) | single nucleotide variant | not specified [RCV004181290] | Chr13:53034445 [GRCh38] Chr13:53608580 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.332A>G (p.Gln111Arg) | single nucleotide variant | not specified [RCV004092400] | Chr13:53034475 [GRCh38] Chr13:53608610 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.1303A>G (p.Met435Val) | single nucleotide variant | not specified [RCV004218244] | Chr13:53050541 [GRCh38] Chr13:53624676 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.454A>G (p.Thr152Ala) | single nucleotide variant | not specified [RCV004263768] | Chr13:53042006 [GRCh38] Chr13:53616141 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.835T>C (p.Ser279Pro) | single nucleotide variant | not specified [RCV004261693] | Chr13:53050073 [GRCh38] Chr13:53624208 [GRCh37] Chr13:13q14.3 |
uncertain significance |
GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1 | copy number loss | not provided [RCV003483182] | Chr13:51768837..54900165 [GRCh37] Chr13:13q14.3 |
uncertain significance |
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 | copy number loss | not specified [RCV003987012] | Chr13:44076923..60520078 [GRCh37] Chr13:13q14.11-21.2 |
pathogenic |
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 | copy number gain | not specified [RCV003987040] | Chr13:35015723..59553519 [GRCh37] Chr13:13q13.2-21.1 |
pathogenic |
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 13q14.2-14.3(chr13:50181731-54350061)x1 | copy number loss | not provided [RCV004442840] | Chr13:50181731..54350061 [GRCh37] Chr13:13q14.2-14.3 |
uncertain significance |
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 | copy number loss | not provided [RCV003885457] | Chr13:34884647..61309742 [GRCh37] Chr13:13q13.2-21.2 |
pathogenic |
NM_006418.5(OLFM4):c.11G>A (p.Gly4Asp) | single nucleotide variant | not specified [RCV004499094] | Chr13:53028847 [GRCh38] Chr13:53602982 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.131C>T (p.Ser44Phe) | single nucleotide variant | not specified [RCV004499096] | Chr13:53028967 [GRCh38] Chr13:53603102 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.1405A>G (p.Ile469Val) | single nucleotide variant | not specified [RCV004499097] | Chr13:53050643 [GRCh38] Chr13:53624778 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.223G>A (p.Gly75Ser) | single nucleotide variant | not specified [RCV004499098] | Chr13:53034366 [GRCh38] Chr13:53608501 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.1244T>C (p.Leu415Pro) | single nucleotide variant | not specified [RCV004499095] | Chr13:53050482 [GRCh38] Chr13:53624617 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.1115G>A (p.Arg372His) | single nucleotide variant | not specified [RCV004499093] | Chr13:53050353 [GRCh38] Chr13:53624488 [GRCh37] Chr13:13q14.3 |
uncertain significance |
NM_006418.5(OLFM4):c.836C>T (p.Ser279Phe) | single nucleotide variant | not specified [RCV004499099] | Chr13:53050074 [GRCh38] Chr13:53624209 [GRCh37] Chr13:13q14.3 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH66409 |
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A002P14 |
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OLFM4_9141 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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1195 | 2359 | 2760 | 2190 | 4606 | 1532 | 1997 | 3 | 475 | 1351 | 313 | 2024 | 6339 | 5796 | 20 | 3621 | 1 | 719 | 1611 | 1417 | 167 |
RefSeq Transcripts | NM_006418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AF097021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AI560739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK000683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL390736 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC047740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC117329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA928098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000219022 ⟹ ENSP00000219022 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_006418 ⟹ NP_006409 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_006409 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC72970 | (Get FASTA) | NCBI Sequence Viewer |
AAH47740 | (Get FASTA) | NCBI Sequence Viewer | |
AAI17330 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88930 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62576 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52052 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52053 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000219022 | ||
ENSP00000219022.2 | |||
GenBank Protein | Q6UX06 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006409 ⟸ NM_006418 |
- Peptide Label: | precursor |
- UniProtKB: | Q5VWG0 (UniProtKB/Swiss-Prot), O95362 (UniProtKB/Swiss-Prot), Q86T22 (UniProtKB/Swiss-Prot), Q6UX06 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000219022 ⟸ ENST00000219022 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6UX06-F1-model_v2 | AlphaFold | Q6UX06 | 1-510 | view protein structure |
RGD ID: | 7226531 | ||||||||
Promoter ID: | EPDNEW_H19012 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | OLFM4_1 | ||||||||
Description: | olfactomedin 4 | ||||||||
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:17190 | AgrOrtholog |
COSMIC | OLFM4 | COSMIC |
Ensembl Genes | ENSG00000102837 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000219022 | ENTREZGENE |
ENST00000219022.3 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000102837 | GTEx |
HGNC ID | HGNC:17190 | ENTREZGENE |
Human Proteome Map | OLFM4 | Human Proteome Map |
InterPro | Olfac-like_dom | UniProtKB/Swiss-Prot |
Olfactomedin-like_domain | UniProtKB/Swiss-Prot | |
Quinoprot_gluc/sorb_DH | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:10562 | UniProtKB/Swiss-Prot |
NCBI Gene | 10562 | ENTREZGENE |
OMIM | 614061 | OMIM |
PANTHER | OLFACTOMEDIN-RELATED | UniProtKB/Swiss-Prot |
PTHR23192:SF7 | UniProtKB/Swiss-Prot | |
Pfam | OLF | UniProtKB/Swiss-Prot |
PharmGKB | PA134984745 | PharmGKB |
PROSITE | OLF | UniProtKB/Swiss-Prot |
SMART | OLF | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF50952 | UniProtKB/Swiss-Prot |
UniProt | O95362 | ENTREZGENE |
OLFM4_HUMAN | UniProtKB/Swiss-Prot | |
Q5VWG0 | ENTREZGENE | |
Q6UX06 | ENTREZGENE | |
Q86T22 | ENTREZGENE | |
UniProt Secondary | O95362 | UniProtKB/Swiss-Prot |
Q5VWG0 | UniProtKB/Swiss-Prot | |
Q86T22 | UniProtKB/Swiss-Prot |