Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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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 |
3. | Hippocampal Nogo-A and neo-Timm's staining in amygdala kindling rats. | Takeda Y, etal., Neurol Res. 2007 Mar;29(2):199-203. |
PMID:10048485 | PMID:10667780 | PMID:10667796 | PMID:10667797 | PMID:10773680 | PMID:11042152 | PMID:11076863 | PMID:11126360 | PMID:11201742 | PMID:11358445 | PMID:11866689 | PMID:11891768 |
PMID:12037567 | PMID:12067236 | PMID:12089450 | PMID:12270696 | PMID:12377379 | PMID:12425946 | PMID:12426574 | PMID:12477932 | PMID:12488097 | PMID:12510146 | PMID:12618765 | PMID:12692556 |
PMID:12811824 | PMID:12951563 | PMID:14592966 | PMID:14644040 | PMID:14702039 | PMID:14741411 | PMID:15034570 | PMID:15146197 | PMID:15147731 | PMID:15234466 | PMID:15245492 | PMID:15286784 |
PMID:15345747 | PMID:15489334 | PMID:15489336 | PMID:15498874 | PMID:15661375 | PMID:15694321 | PMID:15749087 | PMID:15820318 | PMID:15953657 | PMID:16095439 | PMID:16169070 | PMID:16189514 |
PMID:16344560 | PMID:16381901 | PMID:16629624 | PMID:16646068 | PMID:16752908 | PMID:16772867 | PMID:16791210 | PMID:16835300 | PMID:16905119 | PMID:16965550 | PMID:16979658 | PMID:17022955 |
PMID:17029193 | PMID:17081983 | PMID:17191123 | PMID:17242333 | PMID:17335080 | PMID:17353931 | PMID:17437522 | PMID:17455292 | PMID:17474147 | PMID:17592524 | PMID:17626519 | PMID:17645629 |
PMID:17764014 | PMID:17971502 | PMID:18080785 | PMID:18234903 | PMID:18337405 | PMID:18495952 | PMID:18583979 | PMID:18685489 | PMID:18779370 | PMID:18948092 | PMID:19035836 | PMID:19054571 |
PMID:19165527 | PMID:19336839 | PMID:19405102 | PMID:19508346 | PMID:19553259 | PMID:19587271 | PMID:19654939 | PMID:19665976 | PMID:19889996 | PMID:20018888 | PMID:20379614 | PMID:20463223 |
PMID:20487307 | PMID:20599731 | PMID:20717916 | PMID:20938157 | PMID:20971739 | PMID:20975041 | PMID:21044950 | PMID:21111015 | PMID:21166502 | PMID:21183689 | PMID:21237226 | PMID:21251247 |
PMID:21454605 | PMID:21503119 | PMID:21516116 | PMID:21697531 | PMID:21835431 | PMID:21873635 | PMID:21900206 | PMID:21988832 | PMID:22119785 | PMID:22133682 | PMID:22190034 | PMID:22304920 |
PMID:22313113 | PMID:22320844 | PMID:22658674 | PMID:22810586 | PMID:22939629 | PMID:23042479 | PMID:23142642 | PMID:23146900 | PMID:23313137 | PMID:23376485 | PMID:23479081 | PMID:23874603 |
PMID:23982337 | PMID:24129566 | PMID:24262037 | PMID:24278366 | PMID:24332808 | PMID:24372562 | PMID:24401759 | PMID:24623722 | PMID:24626842 | PMID:24966913 | PMID:25040983 | PMID:25075030 |
PMID:25147182 | PMID:25331889 | PMID:25416956 | PMID:25468996 | PMID:25612671 | PMID:25737280 | PMID:25796446 | PMID:25847052 | PMID:25907690 | PMID:25921289 | PMID:26186194 | PMID:26272612 |
PMID:26344197 | PMID:26348872 | PMID:26472601 | PMID:26496610 | PMID:26638075 | PMID:26656426 | PMID:26826187 | PMID:26906412 | PMID:26972000 | PMID:27107014 | PMID:27342126 | PMID:27353365 |
PMID:27354599 | PMID:27619977 | PMID:27684187 | PMID:27786289 | PMID:28144881 | PMID:28298427 | PMID:28330616 | PMID:28408340 | PMID:28514442 | PMID:28628795 | PMID:28675297 | PMID:28687970 |
PMID:28883622 | PMID:29117863 | PMID:29180619 | PMID:29412690 | PMID:29507755 | PMID:29509190 | PMID:29568061 | PMID:29684585 | PMID:29892012 | PMID:30019429 | PMID:30021884 | PMID:30078441 |
PMID:30442662 | PMID:30480803 | PMID:30575818 | PMID:30652415 | PMID:30809309 | PMID:30833792 | PMID:30948266 | PMID:31056421 | PMID:31062076 | PMID:31073040 | PMID:31092426 | PMID:31177093 |
PMID:31249451 | PMID:31358770 | PMID:31469817 | PMID:31515488 | PMID:31536960 | PMID:31622291 | PMID:31654717 | PMID:31732153 | PMID:31748413 | PMID:31764777 | PMID:31871319 | PMID:31980649 |
PMID:31985874 | PMID:32296183 | PMID:32353859 | PMID:32460013 | PMID:32513696 | PMID:32687490 | PMID:32707033 | PMID:32788342 | PMID:32807901 | PMID:32812023 | PMID:32877691 | PMID:32994395 |
PMID:33060197 | PMID:33144569 | PMID:33397691 | PMID:33517425 | PMID:33545068 | PMID:33721786 | PMID:33742100 | PMID:33845483 | PMID:33916271 | PMID:33924890 | PMID:33957083 | PMID:33961781 |
PMID:34079125 | PMID:34432599 | PMID:34709727 | PMID:34732716 | PMID:34758294 | PMID:34795231 | PMID:34824275 | PMID:34943877 | PMID:34983537 | PMID:34998825 | PMID:35007762 | PMID:35022314 |
PMID:35063084 | PMID:35075114 | PMID:35124280 | PMID:35241646 | PMID:35253629 | PMID:35256949 | PMID:35271311 | PMID:35439318 | PMID:35562734 | PMID:35681168 | PMID:35696571 | PMID:35698271 |
PMID:35771867 | PMID:35831314 | PMID:35944360 | PMID:36042349 | PMID:36114006 | PMID:36180527 | PMID:36215168 | PMID:36225252 | PMID:36232890 | PMID:36323241 | PMID:36604567 | PMID:36634849 |
PMID:36688959 | PMID:36774506 | PMID:36901909 | PMID:37224043 | PMID:37232246 | PMID:37318453 | PMID:37689310 | PMID:37774976 | PMID:37827155 | PMID:37931956 |
RTN4 (Homo sapiens - human) |
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Rtn4 (Mus musculus - house mouse) |
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Rtn4 (Rattus norvegicus - Norway rat) |
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Rtn4 (Chinchilla lanigera - long-tailed chinchilla) |
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RTN4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RTN4 (Canis lupus familiaris - dog) |
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Rtn4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RTN4 (Sus scrofa - pig) |
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RTN4 (Chlorocebus sabaeus - green monkey) |
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Rtn4 (Heterocephalus glaber - naked mole-rat) |
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Variants in RTN4
86 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 | copy number gain | See cases [RCV000052933] | Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1 |
pathogenic |
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 | copy number gain | See cases [RCV000052943] | Chr2:40738282..57863821 [GRCh38] Chr2:40965422..58090956 [GRCh37] Chr2:40818926..57944460 [NCBI36] Chr2:2p22.1-16.1 |
pathogenic |
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 | copy number gain | See cases [RCV000137586] | Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2 |
uncertain significance |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 | copy number gain | See cases [RCV000141494] | Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 | copy number gain | See cases [RCV000454271] | Chr2:27861707..60790985 [GRCh37] Chr2:2p23.3-16.1 |
pathogenic |
GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3 | copy number gain | See cases [RCV000446524] | Chr2:54234790..57365499 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)x3 | copy number gain | See cases [RCV000448299] | Chr2:54555290..55741543 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020532.5(RTN4):c.3566G>A (p.Arg1189His) | single nucleotide variant | Inborn genetic diseases [RCV003279726] | Chr2:54973169 [GRCh38] Chr2:55200305 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3305C>T (p.Thr1102Met) | single nucleotide variant | Inborn genetic diseases [RCV003279733] | Chr2:54982570 [GRCh38] Chr2:55209706 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1268A>T (p.Lys423Ile) | single nucleotide variant | Inborn genetic diseases [RCV003282026] | Chr2:55026831 [GRCh38] Chr2:55253967 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3415A>C (p.Thr1139Pro) | single nucleotide variant | Inborn genetic diseases [RCV003284917] | Chr2:54974710 [GRCh38] Chr2:55201846 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.144C>A (p.Asp48Glu) | single nucleotide variant | Inborn genetic diseases [RCV003295935] | Chr2:55050157 [GRCh38] Chr2:55277293 [GRCh37] Chr2:2p16.1 |
uncertain significance |
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 | copy number gain | not provided [RCV000682169] | Chr2:34792916..56676541 [GRCh37] Chr2:2p22.3-16.1 |
pathogenic |
GRCh37/hg19 2p16.2-16.1(chr2:54079222-55328518)x3 | copy number gain | not provided [RCV000682124] | Chr2:54079222..55328518 [GRCh37] Chr2:2p16.2-16.1 |
likely benign |
Single allele | deletion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020532.5(RTN4):c.2821A>C (p.Asn941His) | single nucleotide variant | not provided [RCV000922971] | Chr2:55025278 [GRCh38] Chr2:55252414 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.1319G>A (p.Ser440Asn) | single nucleotide variant | not provided [RCV000883638] | Chr2:55026780 [GRCh38] Chr2:55253916 [GRCh37] Chr2:2p16.1 |
benign |
NM_020532.5(RTN4):c.1858T>C (p.Leu620=) | single nucleotide variant | not provided [RCV000881043] | Chr2:55026241 [GRCh38] Chr2:55253377 [GRCh37] Chr2:2p16.1 |
benign |
NM_020532.5(RTN4):c.3209G>C (p.Gly1070Ala) | single nucleotide variant | not provided [RCV000954381] | Chr2:54987503 [GRCh38] Chr2:55214639 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.382G>T (p.Val128Phe) | single nucleotide variant | Inborn genetic diseases [RCV003268509] | Chr2:55049919 [GRCh38] Chr2:55277055 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.392C>T (p.Ser131Phe) | single nucleotide variant | Inborn genetic diseases [RCV003292905] | Chr2:55049909 [GRCh38] Chr2:55277045 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NC_000002.11:g.(?_54278075)_(55549848_?)dup | duplication | not provided [RCV003105495] | Chr2:54278075..55549848 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1369C>T (p.Arg457Cys) | single nucleotide variant | Inborn genetic diseases [RCV003241726] | Chr2:55026730 [GRCh38] Chr2:55253866 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3302G>A (p.Cys1101Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003241743] | Chr2:54982573 [GRCh38] Chr2:55209709 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2881C>G (p.Gln961Glu) | single nucleotide variant | not provided [RCV000922970] | Chr2:55025218 [GRCh38] Chr2:55252354 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.2976A>G (p.Pro992=) | single nucleotide variant | not provided [RCV000974910] | Chr2:55025123 [GRCh38] Chr2:55252259 [GRCh37] Chr2:2p16.1 |
benign |
NM_020532.5(RTN4):c.1349C>T (p.Thr450Met) | single nucleotide variant | not provided [RCV000973305] | Chr2:55026750 [GRCh38] Chr2:55253886 [GRCh37] Chr2:2p16.1 |
benign |
NM_020532.5(RTN4):c.2440C>A (p.Leu814Met) | single nucleotide variant | not provided [RCV000954878] | Chr2:55025659 [GRCh38] Chr2:55252795 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.2759C>G (p.Ser920Cys) | single nucleotide variant | not provided [RCV000955924] | Chr2:55025340 [GRCh38] Chr2:55252476 [GRCh37] Chr2:2p16.1 |
benign |
NM_020532.5(RTN4):c.2695G>C (p.Glu899Gln) | single nucleotide variant | not provided [RCV000955925] | Chr2:55025404 [GRCh38] Chr2:55252540 [GRCh37] Chr2:2p16.1 |
benign |
NM_020532.5(RTN4):c.2562A>G (p.Arg854=) | single nucleotide variant | not provided [RCV000889887] | Chr2:55025537 [GRCh38] Chr2:55252673 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.255C>G (p.Phe85Leu) | single nucleotide variant | Inborn genetic diseases [RCV003253620] | Chr2:55050046 [GRCh38] Chr2:55277182 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NC_000002.12:g.55141241C>T | single nucleotide variant | not provided [RCV001355415] | Chr2:55141241 [GRCh38] Chr2:55368377 [GRCh37] Chr2:2p16.1 |
uncertain significance |
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543) | copy number gain | not specified [RCV002052748] | Chr2:54555290..55741543 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
GRCh37/hg19 2p16.2-16.1(chr2:54718060-55215908)x3 | copy number gain | not provided [RCV001834418] | Chr2:54718060..55215908 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 | copy number loss | See cases [RCV002287563] | Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3 | copy number gain | not provided [RCV002472401] | Chr2:54780778..55935168 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3530T>C (p.Met1177Thr) | single nucleotide variant | Inborn genetic diseases [RCV002689353] | Chr2:54973569 [GRCh38] Chr2:55200705 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.542C>T (p.Ser181Phe) | single nucleotide variant | Inborn genetic diseases [RCV002779887] | Chr2:55049759 [GRCh38] Chr2:55276895 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1170T>G (p.Phe390Leu) | single nucleotide variant | Inborn genetic diseases [RCV002864762] | Chr2:55026929 [GRCh38] Chr2:55254065 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.422C>G (p.Ala141Gly) | single nucleotide variant | Inborn genetic diseases [RCV002750039] | Chr2:55049879 [GRCh38] Chr2:55277015 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.396G>C (p.Lys132Asn) | single nucleotide variant | Inborn genetic diseases [RCV002884766] | Chr2:55049905 [GRCh38] Chr2:55277041 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1517C>T (p.Thr506Ile) | single nucleotide variant | Inborn genetic diseases [RCV002799630] | Chr2:55026582 [GRCh38] Chr2:55253718 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1885G>T (p.Ala629Ser) | single nucleotide variant | Inborn genetic diseases [RCV002950062] | Chr2:55026214 [GRCh38] Chr2:55253350 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2437A>G (p.Thr813Ala) | single nucleotide variant | Inborn genetic diseases [RCV002822556] | Chr2:55025662 [GRCh38] Chr2:55252798 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1076T>C (p.Val359Ala) | single nucleotide variant | Inborn genetic diseases [RCV002661420] | Chr2:55027023 [GRCh38] Chr2:55254159 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.333C>G (p.Ser111Arg) | single nucleotide variant | Inborn genetic diseases [RCV002738869] | Chr2:55049968 [GRCh38] Chr2:55277104 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.608C>G (p.Ser203Cys) | single nucleotide variant | Inborn genetic diseases [RCV002764685] | Chr2:55028169 [GRCh38] Chr2:55255305 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3229C>G (p.Leu1077Val) | single nucleotide variant | Inborn genetic diseases [RCV002645354] | Chr2:54982646 [GRCh38] Chr2:55209782 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3389A>G (p.Tyr1130Cys) | single nucleotide variant | Inborn genetic diseases [RCV002984158] | Chr2:54974736 [GRCh38] Chr2:55201872 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2425A>G (p.Asn809Asp) | single nucleotide variant | Inborn genetic diseases [RCV002929701] | Chr2:55025674 [GRCh38] Chr2:55252810 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1382A>G (p.Tyr461Cys) | single nucleotide variant | Inborn genetic diseases [RCV002802445] | Chr2:55026717 [GRCh38] Chr2:55253853 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.419C>T (p.Pro140Leu) | single nucleotide variant | Inborn genetic diseases [RCV002697796] | Chr2:55049882 [GRCh38] Chr2:55277018 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2726C>T (p.Ser909Leu) | single nucleotide variant | Inborn genetic diseases [RCV003004020] | Chr2:55025373 [GRCh38] Chr2:55252509 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2081A>G (p.Tyr694Cys) | single nucleotide variant | Inborn genetic diseases [RCV002930088] | Chr2:55026018 [GRCh38] Chr2:55253154 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.214C>T (p.Pro72Ser) | single nucleotide variant | Inborn genetic diseases [RCV002826532] | Chr2:55050087 [GRCh38] Chr2:55277223 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.329C>G (p.Pro110Arg) | single nucleotide variant | Inborn genetic diseases [RCV002965461] | Chr2:55049972 [GRCh38] Chr2:55277108 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3247A>G (p.Ile1083Val) | single nucleotide variant | Inborn genetic diseases [RCV002702791] | Chr2:54982628 [GRCh38] Chr2:55209764 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1247T>G (p.Leu416Trp) | single nucleotide variant | Inborn genetic diseases [RCV002809811] | Chr2:55026852 [GRCh38] Chr2:55253988 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.235A>T (p.Met79Leu) | single nucleotide variant | Inborn genetic diseases [RCV002809812] | Chr2:55050066 [GRCh38] Chr2:55277202 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.2941C>T (p.Leu981Phe) | single nucleotide variant | Inborn genetic diseases [RCV002965601] | Chr2:55025158 [GRCh38] Chr2:55252294 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3470G>A (p.Arg1157Gln) | single nucleotide variant | Inborn genetic diseases [RCV002717726] | Chr2:54973828 [GRCh38] Chr2:55200964 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2804C>T (p.Ser935Leu) | single nucleotide variant | Inborn genetic diseases [RCV002724394] | Chr2:55025295 [GRCh38] Chr2:55252431 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1159T>A (p.Phe387Ile) | single nucleotide variant | Inborn genetic diseases [RCV003278072] | Chr2:55026940 [GRCh38] Chr2:55254076 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1537A>G (p.Lys513Glu) | single nucleotide variant | Inborn genetic diseases [RCV003254809] | Chr2:55026562 [GRCh38] Chr2:55253698 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.268C>T (p.Pro90Ser) | single nucleotide variant | Inborn genetic diseases [RCV003254860] | Chr2:55050033 [GRCh38] Chr2:55277169 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1883G>A (p.Gly628Asp) | single nucleotide variant | Inborn genetic diseases [RCV003215529] | Chr2:55026216 [GRCh38] Chr2:55253352 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2059C>G (p.Leu687Val) | single nucleotide variant | Inborn genetic diseases [RCV003220542] | Chr2:55026040 [GRCh38] Chr2:55253176 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.2834C>T (p.Thr945Ile) | single nucleotide variant | Inborn genetic diseases [RCV003173602] | Chr2:55025265 [GRCh38] Chr2:55252401 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.2074G>C (p.Ala692Pro) | single nucleotide variant | Inborn genetic diseases [RCV003186635] | Chr2:55026025 [GRCh38] Chr2:55253161 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3565C>T (p.Arg1189Cys) | single nucleotide variant | Inborn genetic diseases [RCV003261315] | Chr2:54973170 [GRCh38] Chr2:55200306 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1193A>G (p.Asp398Gly) | single nucleotide variant | Inborn genetic diseases [RCV003304324] | Chr2:55026906 [GRCh38] Chr2:55254042 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3433C>T (p.Leu1145Phe) | single nucleotide variant | Inborn genetic diseases [RCV003196244] | Chr2:54973865 [GRCh38] Chr2:55201001 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.3286C>T (p.Leu1096Phe) | single nucleotide variant | Inborn genetic diseases [RCV003265566] | Chr2:54982589 [GRCh38] Chr2:55209725 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2933A>G (p.Glu978Gly) | single nucleotide variant | Inborn genetic diseases [RCV003379313] | Chr2:55025166 [GRCh38] Chr2:55252302 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.416C>T (p.Pro139Leu) | single nucleotide variant | Inborn genetic diseases [RCV003347788] | Chr2:55049885 [GRCh38] Chr2:55277021 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.272G>A (p.Arg91Gln) | single nucleotide variant | Inborn genetic diseases [RCV003368707] | Chr2:55050029 [GRCh38] Chr2:55277165 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1429A>G (p.Thr477Ala) | single nucleotide variant | Inborn genetic diseases [RCV003363570] | Chr2:55026670 [GRCh38] Chr2:55253806 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.2674C>A (p.Leu892Ile) | single nucleotide variant | Inborn genetic diseases [RCV003385316] | Chr2:55025425 [GRCh38] Chr2:55252561 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.856G>C (p.Asp286His) | single nucleotide variant | Inborn genetic diseases [RCV003362601] | Chr2:55027243 [GRCh38] Chr2:55254379 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.55C>T (p.Pro19Ser) | single nucleotide variant | Inborn genetic diseases [RCV003363971] | Chr2:55050246 [GRCh38] Chr2:55277382 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.527C>A (p.Pro176His) | single nucleotide variant | Inborn genetic diseases [RCV003371373] | Chr2:55049774 [GRCh38] Chr2:55276910 [GRCh37] Chr2:2p16.1 |
uncertain significance |
NM_020532.5(RTN4):c.1626C>T (p.Val542=) | single nucleotide variant | not provided [RCV003407233] | Chr2:55026473 [GRCh38] Chr2:55253609 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.228G>A (p.Ala76=) | single nucleotide variant | not provided [RCV003407234] | Chr2:55050073 [GRCh38] Chr2:55277209 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.381A>T (p.Ala127=) | single nucleotide variant | not provided [RCV003415580] | Chr2:55049920 [GRCh38] Chr2:55277056 [GRCh37] Chr2:2p16.1 |
likely benign |
NM_020532.5(RTN4):c.485C>G (p.Pro162Arg) | single nucleotide variant | Inborn genetic diseases [RCV003361131] | Chr2:55049816 [GRCh38] Chr2:55276952 [GRCh37] Chr2:2p16.1 |
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. |
SHGC-5636 |
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D2S1848 |
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RH80159 |
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RH103665 |
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D2S1521E |
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A002P20 |
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A009M26 |
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RH11556 |
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RH36073 |
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AB049853 |
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SGC32447 |
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D2S1981 |
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G32670 |
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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 | 1 | |||||||||||||||||
Medium | 2432 | 2821 | 1717 | 617 | 1881 | 459 | 4355 | 2097 | 3719 | 416 | 1449 | 1606 | 171 | 1204 | 2788 | 4 | ||
Low | 7 | 170 | 9 | 7 | 70 | 6 | 2 | 100 | 15 | 3 | 10 | 7 | 4 | 1 | 2 | 2 | ||
Below cutoff |
RefSeq Transcripts | NG_029037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001321859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_007008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_020532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_153828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_207520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_207521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_135829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_135830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB015639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB020693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB040462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB040463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB073351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB073359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC013414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC092461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC093165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF063601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF077050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF087901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF125103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF132047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF132048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF148537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF148538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF177332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF320999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF333336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI671568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ251383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ251384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ251385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK093785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK098385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK130812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY102276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY102277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY102278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY102279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY102285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY123245 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY123246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY123247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY123248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY123249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY123250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC016165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC026788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC150182 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC152425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC152555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN429712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ829486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS061793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB094021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ778739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HA642584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HC469555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HI649219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000317610 ⟹ ENSP00000322147 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000337526 ⟹ ENSP00000337838 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000357376 ⟹ ENSP00000349944 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000357732 ⟹ ENSP00000350365 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000394609 ⟹ ENSP00000378107 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000394611 ⟹ ENSP00000378109 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000402434 ⟹ ENSP00000384825 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000404909 ⟹ ENSP00000385650 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000405240 ⟹ ENSP00000384471 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000427710 ⟹ ENSP00000411628 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000438462 ⟹ ENSP00000397808 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000461004 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000485749 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000486085 ⟹ ENSP00000489133 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000491592 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001321859 ⟹ NP_001308788 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001321860 ⟹ NP_001308789 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001321861 ⟹ NP_001308790 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001321862 ⟹ NP_001308791 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001321863 ⟹ NP_001308792 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001321904 ⟹ NP_001308833 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_007008 ⟹ NP_008939 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_020532 ⟹ NP_065393 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_153828 ⟹ NP_722550 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_207520 ⟹ NP_997403 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_207521 ⟹ NP_997404 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_135829 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_135830 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001308788 | (Get FASTA) | NCBI Sequence Viewer |
NP_001308789 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308790 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308791 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308792 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308833 | (Get FASTA) | NCBI Sequence Viewer | |
NP_008939 | (Get FASTA) | NCBI Sequence Viewer | |
NP_065393 | (Get FASTA) | NCBI Sequence Viewer | |
NP_722550 | (Get FASTA) | NCBI Sequence Viewer | |
NP_997403 | (Get FASTA) | NCBI Sequence Viewer | |
NP_997404 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD27783 | (Get FASTA) | NCBI Sequence Viewer |
AAD31021 | (Get FASTA) | NCBI Sequence Viewer | |
AAD31022 | (Get FASTA) | NCBI Sequence Viewer | |
AAD39920 | (Get FASTA) | NCBI Sequence Viewer | |
AAG12176 | (Get FASTA) | NCBI Sequence Viewer | |
AAG12177 | (Get FASTA) | NCBI Sequence Viewer | |
AAG12205 | (Get FASTA) | NCBI Sequence Viewer | |
AAG17976 | (Get FASTA) | NCBI Sequence Viewer | |
AAG40878 | (Get FASTA) | NCBI Sequence Viewer | |
AAG43160 | (Get FASTA) | NCBI Sequence Viewer | |
AAH01035 | (Get FASTA) | NCBI Sequence Viewer | |
AAH07109 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10737 | (Get FASTA) | NCBI Sequence Viewer | |
AAH12619 | (Get FASTA) | NCBI Sequence Viewer | |
AAH14366 | (Get FASTA) | NCBI Sequence Viewer | |
AAH16165 | (Get FASTA) | NCBI Sequence Viewer | |
AAH26788 | (Get FASTA) | NCBI Sequence Viewer | |
AAH68991 | (Get FASTA) | NCBI Sequence Viewer | |
AAH71848 | (Get FASTA) | NCBI Sequence Viewer | |
AAI50183 | (Get FASTA) | NCBI Sequence Viewer | |
AAI52426 | (Get FASTA) | NCBI Sequence Viewer | |
AAI52556 | (Get FASTA) | NCBI Sequence Viewer | |
AAK20831 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64240 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64241 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64242 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64243 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64244 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64245 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64246 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64247 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64248 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64249 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64250 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64251 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64252 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64253 | (Get FASTA) | NCBI Sequence Viewer | |
AAM64254 | (Get FASTA) | NCBI Sequence Viewer | |
AAX93116 | (Get FASTA) | NCBI Sequence Viewer | |
AAY24029 | (Get FASTA) | NCBI Sequence Viewer | |
AAY24239 | (Get FASTA) | NCBI Sequence Viewer | |
ABG76010 | (Get FASTA) | NCBI Sequence Viewer | |
BAA74909 | (Get FASTA) | NCBI Sequence Viewer | |
BAA83712 | (Get FASTA) | NCBI Sequence Viewer | |
BAB18927 | (Get FASTA) | NCBI Sequence Viewer | |
BAB18928 | (Get FASTA) | NCBI Sequence Viewer | |
BAE45714 | (Get FASTA) | NCBI Sequence Viewer | |
BAE45717 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63956 | (Get FASTA) | NCBI Sequence Viewer | |
CAB99248 | (Get FASTA) | NCBI Sequence Viewer | |
CAB99249 | (Get FASTA) | NCBI Sequence Viewer | |
CAB99250 | (Get FASTA) | NCBI Sequence Viewer | |
CAH03193 | (Get FASTA) | NCBI Sequence Viewer | |
CAI79370 | (Get FASTA) | NCBI Sequence Viewer | |
CAZ39560 | (Get FASTA) | NCBI Sequence Viewer | |
CBL54390 | (Get FASTA) | NCBI Sequence Viewer | |
CBX89232 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00115 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00116 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00117 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00118 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00119 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00120 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00121 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00122 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00123 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00124 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00125 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00126 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00127 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00128 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00129 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00130 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00131 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00132 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000322147 | ||
ENSP00000322147.7 | |||
ENSP00000337838 | |||
ENSP00000337838.6 | |||
ENSP00000349944 | |||
ENSP00000349944.3 | |||
ENSP00000350365 | |||
ENSP00000350365.4 | |||
ENSP00000378107 | |||
ENSP00000378107.2 | |||
ENSP00000378109 | |||
ENSP00000378109.2 | |||
ENSP00000384471 | |||
ENSP00000384471.1 | |||
ENSP00000385650 | |||
ENSP00000385650.1 | |||
ENSP00000397808.1 | |||
ENSP00000411628.1 | |||
ENSP00000489133.1 | |||
GenBank Protein | Q9NQC3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_722550 ⟸ NM_153828 |
- Peptide Label: | isoform B |
- UniProtKB: | Q6IPN0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_997403 ⟸ NM_207520 |
- Peptide Label: | isoform D |
- UniProtKB: | Q6IPN0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_065393 ⟸ NM_020532 |
- Peptide Label: | isoform A |
- UniProtKB: | Q9Y2Y7 (UniProtKB/Swiss-Prot), Q9Y293 (UniProtKB/Swiss-Prot), Q9UQ42 (UniProtKB/Swiss-Prot), Q9H3I3 (UniProtKB/Swiss-Prot), Q9H212 (UniProtKB/Swiss-Prot), Q9BXG5 (UniProtKB/Swiss-Prot), Q96B16 (UniProtKB/Swiss-Prot), Q8IUA4 (UniProtKB/Swiss-Prot), Q7L7Q8 (UniProtKB/Swiss-Prot), Q7L7Q6 (UniProtKB/Swiss-Prot), Q7L7Q5 (UniProtKB/Swiss-Prot), O94962 (UniProtKB/Swiss-Prot), Q9Y5U6 (UniProtKB/Swiss-Prot), Q9NQC3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_997404 ⟸ NM_207521 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_008939 ⟸ NM_007008 |
- Peptide Label: | isoform C |
- UniProtKB: | A6XGP7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308833 ⟸ NM_001321904 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308788 ⟸ NM_001321859 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308789 ⟸ NM_001321860 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308790 ⟸ NM_001321861 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308791 ⟸ NM_001321862 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308792 ⟸ NM_001321863 |
- Peptide Label: | isoform E |
- UniProtKB: | Q53RF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000397808 ⟸ ENST00000438462 |
RefSeq Acc Id: | ENSP00000411628 ⟸ ENST00000427710 |
RefSeq Acc Id: | ENSP00000337838 ⟸ ENST00000337526 |
RefSeq Acc Id: | ENSP00000384825 ⟸ ENST00000402434 |
RefSeq Acc Id: | ENSP00000385650 ⟸ ENST00000404909 |
RefSeq Acc Id: | ENSP00000384471 ⟸ ENST00000405240 |
RefSeq Acc Id: | ENSP00000489133 ⟸ ENST00000486085 |
RefSeq Acc Id: | ENSP00000378107 ⟸ ENST00000394609 |
RefSeq Acc Id: | ENSP00000378109 ⟸ ENST00000394611 |
RefSeq Acc Id: | ENSP00000322147 ⟸ ENST00000317610 |
RefSeq Acc Id: | ENSP00000349944 ⟸ ENST00000357376 |
RefSeq Acc Id: | ENSP00000350365 ⟸ ENST00000357732 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9NQC3-F1-model_v2 | AlphaFold | Q9NQC3 | 1-1192 | view protein structure |
RGD ID: | 6860348 | ||||||||
Promoter ID: | EPDNEW_H3339 | ||||||||
Type: | initiation region | ||||||||
Name: | RTN4_3 | ||||||||
Description: | reticulon 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H3340 EPDNEW_H3341 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6860350 | ||||||||
Promoter ID: | EPDNEW_H3340 | ||||||||
Type: | initiation region | ||||||||
Name: | RTN4_1 | ||||||||
Description: | reticulon 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H3339 EPDNEW_H3341 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6798116 | ||||||||
Promoter ID: | HG_KWN:32684 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000326317 | ||||||||
Position: |
|
RGD ID: | 6850724 | ||||||||
Promoter ID: | EP73156 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_RTN4 | ||||||||
Description: | Reticulon 4. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
|
RGD ID: | 6797190 | ||||||||
Promoter ID: | HG_KWN:32686 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Jurkat, K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000402434 | ||||||||
Position: |
|
RGD ID: | 6797192 | ||||||||
Promoter ID: | HG_KWN:32688 | ||||||||
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: | ENST00000354474, ENST00000394611, ENST00000404909, OTTHUMT00000251484, OTTHUMT00000251485, OTTHUMT00000326316, OTTHUMT00000326453, OTTHUMT00000326455 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14085 | AgrOrtholog |
COSMIC | RTN4 | COSMIC |
Ensembl Genes | ENSG00000115310 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000317610 | ENTREZGENE |
ENST00000317610.11 | UniProtKB/Swiss-Prot | |
ENST00000337526 | ENTREZGENE | |
ENST00000337526.11 | UniProtKB/Swiss-Prot | |
ENST00000357376 | ENTREZGENE | |
ENST00000357376.7 | UniProtKB/Swiss-Prot | |
ENST00000357732 | ENTREZGENE | |
ENST00000357732.8 | UniProtKB/Swiss-Prot | |
ENST00000394609 | ENTREZGENE | |
ENST00000394609.6 | UniProtKB/Swiss-Prot | |
ENST00000394611 | ENTREZGENE | |
ENST00000394611.6 | UniProtKB/Swiss-Prot | |
ENST00000404909 | ENTREZGENE | |
ENST00000404909.5 | UniProtKB/Swiss-Prot | |
ENST00000405240 | ENTREZGENE | |
ENST00000405240.5 | UniProtKB/Swiss-Prot | |
ENST00000427710.5 | UniProtKB/TrEMBL | |
ENST00000438462.1 | UniProtKB/TrEMBL | |
ENST00000486085.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.2480 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000115310 | GTEx |
HGNC ID | HGNC:14085 | ENTREZGENE |
Human Proteome Map | RTN4 | Human Proteome Map |
InterPro | Reticulon | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RTN1-4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:57142 | UniProtKB/Swiss-Prot |
NCBI Gene | 57142 | ENTREZGENE |
OMIM | 604475 | OMIM |
PANTHER | RETICULON-4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RETICULON-LIKE PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Reticulon | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34883 | PharmGKB |
PROSITE | RETICULON | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0U1RQR6_HUMAN | UniProtKB/TrEMBL |
A6XGP7 | ENTREZGENE, UniProtKB/TrEMBL | |
C9J685_HUMAN | UniProtKB/TrEMBL | |
H7C106_HUMAN | UniProtKB/TrEMBL | |
O94962 | ENTREZGENE | |
Q53R94_HUMAN | UniProtKB/TrEMBL | |
Q53RF4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q53SY1_HUMAN | UniProtKB/TrEMBL | |
Q6IPN0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q7L7Q5 | ENTREZGENE | |
Q7L7Q6 | ENTREZGENE | |
Q7L7Q8 | ENTREZGENE | |
Q8IUA4 | ENTREZGENE | |
Q96B16 | ENTREZGENE | |
Q9BXG5 | ENTREZGENE | |
Q9H212 | ENTREZGENE | |
Q9H3I3 | ENTREZGENE | |
Q9NQC3 | ENTREZGENE | |
Q9UQ42 | ENTREZGENE | |
Q9Y293 | ENTREZGENE | |
Q9Y2Y7 | ENTREZGENE | |
Q9Y5U6 | ENTREZGENE | |
RTN4_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | O94962 | UniProtKB/Swiss-Prot |
Q7L7Q5 | UniProtKB/Swiss-Prot | |
Q7L7Q6 | UniProtKB/Swiss-Prot | |
Q7L7Q8 | UniProtKB/Swiss-Prot | |
Q8IUA4 | UniProtKB/Swiss-Prot | |
Q96B16 | UniProtKB/Swiss-Prot | |
Q9BXG5 | UniProtKB/Swiss-Prot | |
Q9H212 | UniProtKB/Swiss-Prot | |
Q9H3I3 | UniProtKB/Swiss-Prot | |
Q9UQ42 | UniProtKB/Swiss-Prot | |
Q9Y293 | UniProtKB/Swiss-Prot | |
Q9Y2Y7 | UniProtKB/Swiss-Prot | |
Q9Y5U6 | UniProtKB/Swiss-Prot |