Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20663923 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20663923 | |
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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:14702039 | PMID:19626040 | PMID:20379614 | PMID:20663923 | PMID:23251661 | PMID:23382691 | PMID:23870195 | PMID:24057671 | PMID:24483146 | PMID:29987050 | PMID:33961781 |
PMID:34238129 | PMID:35007762 |
PLD5 (Homo sapiens - human) |
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Pld5 (Mus musculus - house mouse) |
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Pld5 (Rattus norvegicus - Norway rat) |
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Pld5 (Chinchilla lanigera - long-tailed chinchilla) |
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PLD5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PLD5 (Canis lupus familiaris - dog) |
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Pld5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PLD5 (Sus scrofa - pig) |
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PLD5 (Chlorocebus sabaeus - green monkey) |
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Pld5 (Heterocephalus glaber - naked mole-rat) |
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Variants in PLD5
41 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 | copy number gain | See cases [RCV000050981] | Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 | copy number gain | See cases [RCV000050581] | Chr1:223347693..248918469 [GRCh38] Chr1:223521035..249212668 [GRCh37] Chr1:221587658..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 | copy number gain | See cases [RCV000051587] | Chr1:239631841..242609012 [GRCh38] Chr1:239795141..242772314 [GRCh37] Chr1:237861764..240838937 [NCBI36] Chr1:1q43 |
uncertain significance |
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 | copy number gain | See cases [RCV000051588] | Chr1:240553438..242475553 [GRCh38] Chr1:240716738..242638855 [GRCh37] Chr1:238783361..240705478 [NCBI36] Chr1:1q43 |
uncertain significance |
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 | copy number loss | See cases [RCV000051082] | Chr1:230106271..243677283 [GRCh38] Chr1:230242018..243840585 [GRCh37] Chr1:228308641..241907208 [NCBI36] Chr1:1q42.13-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] | Chr1:221902539..248918469 [GRCh38] Chr1:222075881..249212668 [GRCh37] Chr1:220142504..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 | copy number gain | See cases [RCV000051878] | Chr1:223828500..248891309 [GRCh38] Chr1:224016202..249185508 [GRCh37] Chr1:222082825..247152131 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 | copy number gain | See cases [RCV000051880] | Chr1:223887780..248891309 [GRCh38] Chr1:224075482..249185508 [GRCh37] Chr1:222142105..247152131 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 | copy number gain | See cases [RCV000051882] | Chr1:224096488..248918469 [GRCh38] Chr1:224284190..249212668 [GRCh37] Chr1:222350813..247179291 [NCBI36] Chr1:1q42.11-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 | copy number gain | See cases [RCV000051861] | Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] | Chr1:236237049..248918469 [GRCh38] Chr1:236400349..249212668 [GRCh37] Chr1:234466972..247179291 [NCBI36] Chr1:1q42.3-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 | copy number gain | See cases [RCV000051886] | Chr1:239657468..248918610 [GRCh38] Chr1:239820768..249212809 [GRCh37] Chr1:237887391..247179432 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 | copy number gain | See cases [RCV000051888] | Chr1:240244444..248891309 [GRCh38] Chr1:240407744..249185508 [GRCh37] Chr1:238474367..247152131 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 | copy number loss | See cases [RCV000053985] | Chr1:232097468..248918610 [GRCh38] Chr1:232233214..249212809 [GRCh37] Chr1:230299837..247179432 [NCBI36] Chr1:1q42.2-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] | Chr1:237041745..248918469 [GRCh38] Chr1:237205045..249212668 [GRCh37] Chr1:235271668..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 | copy number loss | See cases [RCV000053990] | Chr1:237906379..244022201 [GRCh38] Chr1:238069679..244185503 [GRCh37] Chr1:236136302..242252126 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] | Chr1:238061020..248918469 [GRCh38] Chr1:238224320..249212668 [GRCh37] Chr1:236290943..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] | Chr1:239496961..248918469 [GRCh38] Chr1:239660261..249212668 [GRCh37] Chr1:237726884..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 | copy number loss | See cases [RCV000054023] | Chr1:239558430..248918469 [GRCh38] Chr1:239721730..249212668 [GRCh37] Chr1:237788353..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 | copy number loss | See cases [RCV000054024] | Chr1:239629868..248924593 [GRCh38] Chr1:239793168..249218792 [GRCh37] Chr1:237859791..247185415 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 | copy number loss | See cases [RCV000054025] | Chr1:241047422..248924593 [GRCh38] Chr1:241210722..249218792 [GRCh37] Chr1:239277345..247185415 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 | copy number loss | See cases [RCV000054026] | Chr1:241459440..247704671 [GRCh38] Chr1:241622740..247867973 [GRCh37] Chr1:239689363..245934596 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 | copy number loss | See cases [RCV000054027] | Chr1:241676908..245647727 [GRCh38] Chr1:241840210..245811029 [GRCh37] Chr1:239906833..243877652 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 | copy number loss | See cases [RCV000054028] | Chr1:241757249..248891309 [GRCh38] Chr1:241920551..249185508 [GRCh37] Chr1:239987174..247152131 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] | Chr1:242076868..248918469 [GRCh38] Chr1:242240170..249212668 [GRCh37] Chr1:240306793..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1 | copy number loss | See cases [RCV000054030] | Chr1:242240797..245200164 [GRCh38] Chr1:242404099..245363466 [GRCh37] Chr1:240470722..243430089 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1 | copy number loss | See cases [RCV000054031] | Chr1:242410569..245413313 [GRCh38] Chr1:242573871..245576615 [GRCh37] Chr1:240640494..243643238 [NCBI36] Chr1:1q43-44 |
pathogenic |
NM_001195811.1(PLD5):c.860C>T (p.Pro287Leu) | single nucleotide variant | Malignant melanoma [RCV000064614] | Chr1:242113914 [GRCh38] Chr1:242277216 [GRCh37] Chr1:240343839 [NCBI36] Chr1:1q43 |
not provided |
NM_001195811.1(PLD5):c.59T>C (p.Val20Ala) | single nucleotide variant | Malignant melanoma [RCV000064615] | Chr1:242348187 [GRCh38] Chr1:242511489 [GRCh37] Chr1:240578112 [NCBI36] Chr1:1q43 |
not provided |
NM_001195811.1(PLD5):c.1168+1885C>G | single nucleotide variant | Lung cancer [RCV000097486] | Chr1:242098783 [GRCh38] Chr1:242262085 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.1168+4234A>T | single nucleotide variant | Lung cancer [RCV000090710] | Chr1:242096434 [GRCh38] Chr1:242259736 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.549+8062A>G | single nucleotide variant | Lung cancer [RCV000090711] | Chr1:242211926 [GRCh38] Chr1:242375228 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.422-2158A>G | single nucleotide variant | Lung cancer [RCV000090712] | Chr1:242222273 [GRCh38] Chr1:242385575 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.422-8793G>A | single nucleotide variant | Lung cancer [RCV000090713] | Chr1:242228908 [GRCh38] Chr1:242392210 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.421+11093A>T | single nucleotide variant | Lung cancer [RCV000090714] | Chr1:242254244 [GRCh38] Chr1:242417546 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.141-7040G>A | single nucleotide variant | Lung cancer [RCV000090715] | Chr1:242295570 [GRCh38] Chr1:242458872 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.141-27698G>A | single nucleotide variant | Lung cancer [RCV000090716] | Chr1:242316228 [GRCh38] Chr1:242479530 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.4-32335G>C | single nucleotide variant | Lung cancer [RCV000090717] | Chr1:242380577 [GRCh38] Chr1:242543879 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001195811.1(PLD5):c.3+42092G>A | single nucleotide variant | Lung cancer [RCV000090718] | Chr1:242407262 [GRCh38] Chr1:242570564 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_152666.2(PLD5):c.189+55905C>A | single nucleotide variant | Lung cancer [RCV000090719] | Chr1:242468183 [GRCh38] Chr1:242631485 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_152666.2(PLD5):c.189+11105G>T | single nucleotide variant | Lung cancer [RCV000090720] | Chr1:242512983 [GRCh38] Chr1:242676285 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 | copy number loss | See cases [RCV002292708] | Chr1:233012994..249206918 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 | copy number loss | See cases [RCV000134751] | Chr1:238753749..248918467 [GRCh38] Chr1:238917049..249212666 [GRCh37] Chr1:236983672..247179289 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 | copy number loss | See cases [RCV000134172] | Chr1:238351121..248918469 [GRCh38] Chr1:238514421..249212668 [GRCh37] Chr1:236581044..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 | copy number gain | See cases [RCV000134979] | Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 | copy number gain | See cases [RCV000135839] | Chr1:223815147..248918469 [GRCh38] Chr1:224002849..249212668 [GRCh37] Chr1:222069472..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 | copy number gain | See cases [RCV000136503] | Chr1:241625115..245453782 [GRCh38] Chr1:241788417..245617084 [GRCh37] Chr1:239855040..243683707 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 | copy number gain | See cases [RCV000136666] | Chr1:229022909..248918469 [GRCh38] Chr1:229158656..249212668 [GRCh37] Chr1:227225279..247179291 [NCBI36] Chr1:1q42.13-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 | copy number loss | See cases [RCV000137554] | Chr1:236556082..248918469 [GRCh38] Chr1:236719382..249212668 [GRCh37] Chr1:234786005..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43(chr1:242166764-242957825)x1 | copy number loss | See cases [RCV000137549] | Chr1:242166764..242957825 [GRCh38] Chr1:242330066..243121127 [GRCh37] Chr1:240396689..241187750 [NCBI36] Chr1:1q43 |
uncertain significance |
GRCh38/hg38 1q43(chr1:242166764-243027799)x3 | copy number gain | See cases [RCV000137712] | Chr1:242166764..243027799 [GRCh38] Chr1:242330066..243191101 [GRCh37] Chr1:240396689..241257724 [NCBI36] Chr1:1q43 |
likely benign |
GRCh38/hg38 1q43(chr1:242475494-243242152)x3 | copy number gain | See cases [RCV000137477] | Chr1:242475494..243242152 [GRCh38] Chr1:242638796..243405454 [GRCh37] Chr1:240705419..241472077 [NCBI36] Chr1:1q43 |
likely benign |
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 | copy number loss | See cases [RCV000137260] | Chr1:240465122..248918469 [GRCh38] Chr1:240628422..249212668 [GRCh37] Chr1:238695045..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 | copy number gain | See cases [RCV000137769] | Chr1:224022862..248918469 [GRCh38] Chr1:224210564..249212668 [GRCh37] Chr1:222277187..247179291 [NCBI36] Chr1:1q42.11-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3 | copy number gain | See cases [RCV000138233] | Chr1:241967139..245542967 [GRCh38] Chr1:242130441..245706269 [GRCh37] Chr1:240197064..243772892 [NCBI36] Chr1:1q43-44 |
likely pathogenic |
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 | copy number loss | See cases [RCV000139889] | Chr1:242045279..248930485 [GRCh38] Chr1:242208581..249224684 [GRCh37] Chr1:240275204..247191307 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 | copy number loss | See cases [RCV000140039] | Chr1:238033575..248924534 [GRCh38] Chr1:238196875..249218733 [GRCh37] Chr1:236263498..247185356 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43(chr1:242137482-242278796)x1 | copy number loss | See cases [RCV000141292] | Chr1:242137482..242278796 [GRCh38] Chr1:242300784..242442098 [GRCh37] Chr1:240367407..240508721 [NCBI36] Chr1:1q43 |
uncertain significance |
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 | copy number loss | See cases [RCV000141690] | Chr1:239288025..242458053 [GRCh38] Chr1:239451325..242621355 [GRCh37] Chr1:237517948..240687978 [NCBI36] Chr1:1q43 |
pathogenic |
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 | copy number gain | See cases [RCV000142448] | Chr1:225438480..248787200 [GRCh38] Chr1:225626182..249060210 [GRCh37] Chr1:223692805..247048022 [NCBI36] Chr1:1q42.12-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 | copy number loss | See cases [RCV000142518] | Chr1:237643281..248918469 [GRCh38] Chr1:237806581..249212668 [GRCh37] Chr1:235873204..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 | copy number loss | See cases [RCV000143374] | Chr1:238192880..248930485 [GRCh38] Chr1:238356180..249224684 [GRCh37] Chr1:236422803..247191307 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 | copy number gain | See cases [RCV000143727] | Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q43(chr1:241820063-242545979)x1 | copy number loss | See cases [RCV000143732] | Chr1:241820063..242545979 [GRCh38] Chr1:241983365..242709281 [GRCh37] Chr1:240049988..240775904 [NCBI36] Chr1:1q43 |
uncertain significance |
Single allele | deletion | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV000235042] | Chr1:242100310..244396371 [GRCh38] Chr1:242263612..244559673 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43(chr1:242366167-242391262)x1 | copy number loss | Premature ovarian failure [RCV000225142] | Chr1:242366167..242391262 [GRCh38] Chr1:242529469..242554564 [GRCh37] Chr1:1q43 |
benign |
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 | copy number gain | See cases [RCV000511337] | Chr1:242324398..249224684 [GRCh37] Chr1:1q43-44 |
likely pathogenic |
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 | copy number gain | See cases [RCV000240034] | Chr1:234050864..249213059 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1 | copy number loss | See cases [RCV000240515] | Chr1:242357208..246378823 [GRCh37] Chr1:1q43-44 |
pathogenic |
NC_000001.11:g.(?_242268256)_(243843190_?)del | deletion | Senior-Loken syndrome 7 [RCV000817924] | Chr1:242268256..243843190 [GRCh38] Chr1:242431558..244006492 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 | copy number gain | See cases [RCV000449172] | Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 | copy number gain | See cases [RCV000449458] | Chr1:236515525..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 | copy number gain | See cases [RCV000449210] | Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 | copy number gain | See cases [RCV000447654] | Chr1:231670870..249213000 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 | copy number loss | See cases [RCV000447669] | Chr1:237233879..249206548 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 | copy number gain | See cases [RCV000447584] | Chr1:239781260..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 | copy number loss | See cases [RCV000447426] | Chr1:235374095..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 | copy number loss | See cases [RCV000446261] | Chr1:241094652..246670839 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 | copy number loss | See cases [RCV000448028] | Chr1:241601964..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 | copy number gain | See cases [RCV000448507] | Chr1:242656460..249213000 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 | copy number loss | See cases [RCV000512075] | Chr1:240620284..247690417 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 | copy number loss | See cases [RCV000510546] | Chr1:235797384..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q43(chr1:242401835-243027981)x1 | copy number loss | See cases [RCV000511989] | Chr1:242401835..243027981 [GRCh37] Chr1:1q43 |
likely benign |
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 | copy number gain | See cases [RCV000510981] | Chr1:224105294..249224684 [GRCh37] Chr1:1q42.11-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 | copy number gain | not provided [RCV000684700] | Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 | copy number gain | not provided [RCV000684707] | Chr1:228529973..249181598 [GRCh37] Chr1:1q42.13-44 |
pathogenic |
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 | copy number gain | not provided [RCV000684715] | Chr1:240958055..243698867 [GRCh37] Chr1:1q43 |
likely pathogenic |
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 | copy number loss | not provided [RCV000684716] | Chr1:241051170..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 | copy number gain | not provided [RCV000749394] | Chr1:232232335..249218992 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 | copy number loss | not provided [RCV000749402] | Chr1:236617216..244515378 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43(chr1:242313939-242329814)x1 | copy number loss | not provided [RCV000749415] | Chr1:242313939..242329814 [GRCh37] Chr1:1q43 |
benign |
GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1 | copy number loss | not provided [RCV001005203] | Chr1:242483182..245087048 [GRCh37] Chr1:1q43-44 |
pathogenic |
NC_000001.10:g.(?_241661108)_(242431558_?)del | deletion | Fumarase deficiency [RCV001032255] | Chr1:241661108..242431558 [GRCh37] Chr1:1q43 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242150334-246518362) | copy number loss | not provided [RCV000767623] | Chr1:242150334..246518362 [GRCh37] Chr1:1q43-44 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787399] | Chr1:238817623..244138230 [GRCh37] Chr1:1q43-44 |
likely pathogenic |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 | copy number gain | not provided [RCV000845852] | Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 | copy number gain | not provided [RCV000849904] | Chr1:238669293..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 | copy number gain | not provided [RCV000846184] | Chr1:235582580..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q43(chr1:242292690-243094146)x4 | copy number gain | See cases [RCV000790608] | Chr1:242292690..243094146 [GRCh37] Chr1:1q43 |
likely benign |
Single allele | deletion | Hereditary leiomyomatosis and renal cell cancer [RCV000850150] | Chr1:237244834..242310908 [GRCh37] Chr1:1q43 |
pathogenic |
GRCh37/hg19 1q43(chr1:242403224-242512725)x1 | copy number loss | not provided [RCV002472696] | Chr1:242403224..242512725 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 | copy number gain | See cases [RCV001194578] | Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 | copy number gain | See cases [RCV001007407] | Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
pathogenic |
GRCh37/hg19 1q43(chr1:242200571-242466974)x1 | copy number loss | not provided [RCV001005202] | Chr1:242200571..242466974 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q43-44(chr1:240554955-247342593) | copy number loss | Corpus callosum, agenesis of [RCV001352645] | Chr1:240554955..247342593 [GRCh37] Chr1:1q43-44 |
pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 | copy number gain | Autism [RCV002284315] | Chr1:240857677..243316822 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 | copy number gain | not provided [RCV001829254] | Chr1:240857677..243316822 [GRCh37] Chr1:1q43 |
uncertain significance |
NC_000001.10:g.(?_242431558)_(245027609_?)del | deletion | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001956278] | Chr1:242431558..245027609 [GRCh37] Chr1:1q43-44 |
pathogenic |
NC_000001.10:g.(?_241661128)_(245027609_?)dup | duplication | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001992552] | Chr1:241661128..245027609 [GRCh37] Chr1:1q43-44 |
uncertain significance |
NC_000001.10:g.(?_241661128)_(244218672_?)del | deletion | not provided [RCV003114057] | Chr1:241661128..244218672 [GRCh37] Chr1:1q43-44 |
uncertain significance |
NM_001372062.1(PLD5):c.45G>C (p.Glu15Asp) | single nucleotide variant | Inborn genetic diseases [RCV003276211] | Chr1:242524232 [GRCh38] Chr1:242687534 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 | copy number gain | See cases [RCV002287837] | Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 | copy number loss | not provided [RCV002474585] | Chr1:232732121..243338216 [GRCh37] Chr1:1q42.2-43 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 | copy number loss | not provided [RCV002474504] | Chr1:239910960..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242619665-244705582)x4 | copy number gain | not provided [RCV002474775] | Chr1:242619665..244705582 [GRCh37] Chr1:1q43-44 |
uncertain significance |
Single allele | deletion | Developmental and epileptic encephalopathy, 54 [RCV002481171] | Chr1:242045197..249212668 [GRCh37] Chr1:1q43-44 |
likely pathogenic |
NM_001372062.1(PLD5):c.1606G>A (p.Val536Ile) | single nucleotide variant | Inborn genetic diseases [RCV002946335] | Chr1:242089859 [GRCh38] Chr1:242253161 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q43(chr1:242534486-242646475)x1 | copy number loss | not provided [RCV002475737] | Chr1:242534486..242646475 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 | copy number gain | not provided [RCV002475745] | Chr1:223972939..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
NM_001372062.1(PLD5):c.1579G>A (p.Asp527Asn) | single nucleotide variant | Inborn genetic diseases [RCV002691995] | Chr1:242089886 [GRCh38] Chr1:242253188 [GRCh37] Chr1:1q43 |
likely benign |
NM_001372062.1(PLD5):c.1103G>A (p.Arg368Lys) | single nucleotide variant | Inborn genetic diseases [RCV002911723] | Chr1:242107807 [GRCh38] Chr1:242271109 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.637G>A (p.Ala213Thr) | single nucleotide variant | Inborn genetic diseases [RCV002951018] | Chr1:242220086 [GRCh38] Chr1:242383388 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.1436A>G (p.Asn479Ser) | single nucleotide variant | Inborn genetic diseases [RCV002884371] | Chr1:242090029 [GRCh38] Chr1:242253331 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.1442G>A (p.Ser481Asn) | single nucleotide variant | Inborn genetic diseases [RCV002827316] | Chr1:242090023 [GRCh38] Chr1:242253325 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.1009A>G (p.Lys337Glu) | single nucleotide variant | Inborn genetic diseases [RCV002985193] | Chr1:242113951 [GRCh38] Chr1:242277253 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 | copy number gain | not provided [RCV002509019] | Chr1:224230307..243181599 [GRCh37] Chr1:1q42.11-43 |
not provided |
NM_001372062.1(PLD5):c.227G>T (p.Cys76Phe) | single nucleotide variant | Inborn genetic diseases [RCV002825968] | Chr1:242348205 [GRCh38] Chr1:242511507 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.434A>G (p.Lys145Arg) | single nucleotide variant | Inborn genetic diseases [RCV002836152] | Chr1:242288423 [GRCh38] Chr1:242451725 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.1136G>A (p.Arg379Gln) | single nucleotide variant | Inborn genetic diseases [RCV002718596] | Chr1:242107774 [GRCh38] Chr1:242271076 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.73C>T (p.Arg25Cys) | single nucleotide variant | Inborn genetic diseases [RCV002679019] | Chr1:242524204 [GRCh38] Chr1:242687506 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.280G>A (p.Glu94Lys) | single nucleotide variant | Inborn genetic diseases [RCV003199639] | Chr1:242348152 [GRCh38] Chr1:242511454 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 | copy number loss | Intellectual disability, autosomal dominant 22 [RCV003327725] | Chr1:235215476..247005888 [GRCh38] Chr1:1q42.3-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1 | copy number loss | Intellectual disability, autosomal dominant 22 [RCV003327716] | Chr1:242164274..245299473 [GRCh38] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 | copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] | Chr1:230178121..243646135 [GRCh38] Chr1:1q42.13-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1 | copy number loss | Intellectual disability, autosomal dominant 22 [RCV003333898] | Chr1:242520315..246857912 [GRCh38] Chr1:1q43-44 |
pathogenic |
NM_001372062.1(PLD5):c.1030G>C (p.Val344Leu) | single nucleotide variant | Inborn genetic diseases [RCV003365057] | Chr1:242113930 [GRCh38] Chr1:242277232 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 | copy number gain | not provided [RCV003484052] | Chr1:229373250..249206595 [GRCh37] Chr1:1q42.13-44 |
pathogenic |
GRCh37/hg19 1q43(chr1:241953098-242505759)x1 | copy number loss | not provided [RCV003484133] | Chr1:241953098..242505759 [GRCh37] Chr1:1q43 |
uncertain significance |
GRCh37/hg19 1q43(chr1:241815787-242287967)x3 | copy number gain | not provided [RCV003417176] | Chr1:241815787..242287967 [GRCh37] Chr1:1q43 |
uncertain significance |
NM_001372062.1(PLD5):c.220C>T (p.Leu74=) | single nucleotide variant | not provided [RCV003415083] | Chr1:242348212 [GRCh38] Chr1:242511514 [GRCh37] Chr1:1q43 |
likely benign |
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 | copy number loss | Intellectual disability, autosomal dominant 22 [RCV003333897] | Chr1:239907336..248919110 [GRCh38] Chr1:1q43-44 |
pathogenic |
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. |
D1S2467 |
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D1S1634 |
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D1S3380 |
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AL033756 |
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AL033725 |
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RH103811 |
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RH104420 |
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SHGC-68669 |
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RH121562 |
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RH122039 |
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G62494 |
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D1S1858E |
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SHGC-53503 |
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AL009593 |
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D1S3409 |
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SHGC-76605 |
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AL009886 |
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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 | |
High | |||||||||||||||||
Medium | 1 | 234 | 5 | 2 | 2 | 2 | 34 | 3 | 183 | 1 | 1 | 16 | 31 | ||||
Low | 428 | 1035 | 644 | 110 | 77 | 18 | 998 | 308 | 2646 | 46 | 705 | 291 | 95 | 1 | 239 | 692 | 2 |
Below cutoff | 1796 | 1358 | 847 | 323 | 940 | 257 | 3184 | 1808 | 860 | 222 | 544 | 1112 | 72 | 958 | 2033 | 2 |
RefSeq Transcripts | NM_001195811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001195812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001320272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017000567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017000568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017000569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017000570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024453867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047448702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047448705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK091691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK098092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL133851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL360271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL445704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL583845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL591686 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY391836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY461578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101373 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101374 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU581400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DR004966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000314833 ⟹ ENSP00000314748 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000366545 ⟹ ENSP00000355503 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000427495 ⟹ ENSP00000401285 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000442594 ⟹ ENSP00000414188 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000459864 ⟹ ENSP00000438191 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000467561 ⟹ ENSP00000440132 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474177 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000536534 ⟹ ENSP00000440896 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001195811 ⟹ NP_001182740 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001195812 ⟹ NP_001182741 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001320272 ⟹ NP_001307201 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001372062 ⟹ NP_001358991 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011544115 ⟹ XP_011542417 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_011544116 ⟹ XP_011542418 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011544119 ⟹ XP_011542421 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011544120 ⟹ XP_011542422 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_011544121 ⟹ XP_011542423 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_011544122 ⟹ XP_011542424 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017000570 ⟹ XP_016856059 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024453867 ⟹ XP_024309635 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047448702 ⟹ XP_047304658 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047448705 ⟹ XP_047304661 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334939 ⟹ XP_054190914 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334940 ⟹ XP_054190915 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334941 ⟹ XP_054190916 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334942 ⟹ XP_054190917 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334943 ⟹ XP_054190918 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334944 ⟹ XP_054190919 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334945 ⟹ XP_054190920 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054334946 ⟹ XP_054190921 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054334947 ⟹ XP_054190922 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054334948 ⟹ XP_054190923 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001182740 | (Get FASTA) | NCBI Sequence Viewer |
NP_001182741 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001307201 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358991 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542417 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542418 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542421 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542422 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542423 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542424 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016856059 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024309635 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047304658 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047304661 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190914 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190915 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190916 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190917 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190918 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190919 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190920 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190921 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190922 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190923 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI01374 | (Get FASTA) | NCBI Sequence Viewer |
AAI01375 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01376 | (Get FASTA) | NCBI Sequence Viewer | |
AAS91020 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03722 | (Get FASTA) | NCBI Sequence Viewer | |
BAC05230 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12060 | (Get FASTA) | NCBI Sequence Viewer | |
EAW70111 | (Get FASTA) | NCBI Sequence Viewer | |
EAW70112 | (Get FASTA) | NCBI Sequence Viewer | |
EAW70113 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000314748.6 | ||
ENSP00000355503.4 | |||
ENSP00000401285 | |||
ENSP00000401285.1 | |||
ENSP00000414188.3 | |||
ENSP00000438191.1 | |||
ENSP00000440132.1 | |||
ENSP00000440896 | |||
ENSP00000440896.1 | |||
GenBank Protein | Q8N7P1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001182740 ⟸ NM_001195811 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001182741 ⟸ NM_001195812 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542417 ⟸ XM_011544115 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542418 ⟸ XM_011544116 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542422 ⟸ XM_011544120 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542421 ⟸ XM_011544119 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011542423 ⟸ XM_011544121 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542424 ⟸ XM_011544122 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001307201 ⟸ NM_001320272 |
- Peptide Label: | isoform 4 |
- Sequence: |
RefSeq Acc Id: | XP_016856059 ⟸ XM_017000570 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024309635 ⟸ XM_024453867 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001358991 ⟸ NM_001372062 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8N7P1 (UniProtKB/Swiss-Prot), Q494U9 (UniProtKB/Swiss-Prot), B7Z324 (UniProtKB/Swiss-Prot), A1KXV0 (UniProtKB/Swiss-Prot), Q8NB22 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | ENSP00000401285 ⟸ ENST00000427495 |
RefSeq Acc Id: | ENSP00000440132 ⟸ ENST00000467561 |
RefSeq Acc Id: | ENSP00000414188 ⟸ ENST00000442594 |
RefSeq Acc Id: | ENSP00000440896 ⟸ ENST00000536534 |
RefSeq Acc Id: | ENSP00000355503 ⟸ ENST00000366545 |
RefSeq Acc Id: | ENSP00000438191 ⟸ ENST00000459864 |
RefSeq Acc Id: | ENSP00000314748 ⟸ ENST00000314833 |
RefSeq Acc Id: | XP_047304661 ⟸ XM_047448705 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047304658 ⟸ XM_047448702 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054190915 ⟸ XM_054334940 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054190916 ⟸ XM_054334941 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054190914 ⟸ XM_054334939 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054190919 ⟸ XM_054334944 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054190918 ⟸ XM_054334943 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054190921 ⟸ XM_054334946 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054190917 ⟸ XM_054334942 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054190923 ⟸ XM_054334948 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054190922 ⟸ XM_054334947 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054190920 ⟸ XM_054334945 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8N7P1-F1-model_v2 | AlphaFold | Q8N7P1 | 1-536 | view protein structure |
RGD ID: | 6859410 | ||||||||
Promoter ID: | EPDNEW_H2870 | ||||||||
Type: | initiation region | ||||||||
Name: | PLD5_1 | ||||||||
Description: | phospholipase D family member 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2871 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6859412 | ||||||||
Promoter ID: | EPDNEW_H2871 | ||||||||
Type: | initiation region | ||||||||
Name: | PLD5_2 | ||||||||
Description: | phospholipase D family member 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2870 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:26879 | AgrOrtholog |
COSMIC | PLD5 | COSMIC |
Ensembl Genes | ENSG00000180287 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000314833.10 | UniProtKB/TrEMBL |
ENST00000366545.5 | UniProtKB/TrEMBL | |
ENST00000427495 | ENTREZGENE | |
ENST00000427495.5 | UniProtKB/Swiss-Prot | |
ENST00000442594.6 | UniProtKB/Swiss-Prot | |
ENST00000459864.1 | UniProtKB/TrEMBL | |
ENST00000467561.5 | UniProtKB/TrEMBL | |
ENST00000536534 | ENTREZGENE | |
ENST00000536534.7 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Endonuclease Chain A | UniProtKB/Swiss-Prot |
GTEx | ENSG00000180287 | GTEx |
HGNC ID | HGNC:26879 | ENTREZGENE |
Human Proteome Map | PLD5 | Human Proteome Map |
InterPro | PLDc_3 | UniProtKB/Swiss-Prot |
PLipase_D/transphosphatidylase | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:200150 | UniProtKB/Swiss-Prot |
NCBI Gene | 200150 | ENTREZGENE |
PANTHER | INACTIVE PHOSPHOLIPASE D5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PHOSPHOLIPASE D - RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PLDc_3 | UniProtKB/Swiss-Prot |
PharmGKB | PA142671168 | PharmGKB |
SMART | PLDc | UniProtKB/Swiss-Prot |
Superfamily-SCOP | Phospholipase D/nuclease | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A1KXV0 | ENTREZGENE |
B7Z324 | ENTREZGENE | |
F5GXZ8_HUMAN | UniProtKB/TrEMBL | |
F5H329_HUMAN | UniProtKB/TrEMBL | |
F8W7H1_HUMAN | UniProtKB/TrEMBL | |
J3KP61_HUMAN | UniProtKB/TrEMBL | |
L8ECN2_HUMAN | UniProtKB/TrEMBL | |
PLD5_HUMAN | UniProtKB/Swiss-Prot | |
Q494U9 | ENTREZGENE | |
Q8N7P1 | ENTREZGENE | |
Q8NB22 | ENTREZGENE | |
UniProt Secondary | A1KXV0 | UniProtKB/Swiss-Prot |
B7Z324 | UniProtKB/Swiss-Prot | |
Q494U9 | UniProtKB/Swiss-Prot | |
Q8NB22 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | PLD5 | phospholipase D family member 5 | phospholipase D family, member 5 | Symbol and/or name change | 5135510 | APPROVED |