Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEPRO | Human | anauxetic dysplasia 3 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEPRO | Human | anauxetic dysplasia 3 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:14702039 | PMID:15489334 | PMID:16565220 | PMID:19615732 | PMID:19906856 | PMID:20195357 | PMID:21873635 | PMID:23383273 | PMID:24778252 | PMID:24981860 | PMID:26186194 | PMID:26472758 |
PMID:26472760 | PMID:26496610 | PMID:27926873 | PMID:28514442 | PMID:29180619 | PMID:29395067 | PMID:29509190 | PMID:29568061 | PMID:29778605 | PMID:30021884 | PMID:31048545 | PMID:31091453 |
PMID:31250547 | PMID:31527615 | PMID:32807901 | PMID:33961781 | PMID:34079125 | PMID:34373451 | PMID:35140242 | PMID:35271311 | PMID:35509820 | PMID:35545034 | PMID:35652658 | PMID:35819319 |
PMID:35850772 | PMID:35915203 | PMID:36424410 | PMID:37536630 | PMID:37689310 | PMID:37827155 |
NEPRO (Homo sapiens - human) |
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Nepro (Mus musculus - house mouse) |
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Nepro (Rattus norvegicus - Norway rat) |
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Nepro (Chinchilla lanigera - long-tailed chinchilla) |
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NEPRO (Pan paniscus - bonobo/pygmy chimpanzee) |
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NEPRO (Canis lupus familiaris - dog) |
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Nepro (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NEPRO (Sus scrofa - pig) |
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NEPRO (Chlorocebus sabaeus - green monkey) |
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Nepro (Heterocephalus glaber - naked mole-rat) |
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Variants in NEPRO
18 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 | copy number loss | See cases [RCV000050766] | Chr3:112168829..117393356 [GRCh38] Chr3:111887676..117112203 [GRCh37] Chr3:113370366..118594893 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 | copy number loss | See cases [RCV000051543] | Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 | copy number loss | See cases [RCV000051544] | Chr3:108242572..116169331 [GRCh38] Chr3:107961419..115888178 [GRCh37] Chr3:109444109..117370868 [NCBI36] Chr3:3q13.13-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 | copy number loss | See cases [RCV000051545] | Chr3:112479482..115774102 [GRCh38] Chr3:112198329..115492949 [GRCh37] Chr3:113681019..116975639 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 | copy number gain | See cases [RCV000051722] | Chr3:104621220..116093884 [GRCh38] Chr3:104340064..115812731 [GRCh37] Chr3:105822754..117295421 [NCBI36] Chr3:3q13.11-13.31 |
pathogenic |
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 | copy number loss | See cases [RCV000135320] | Chr3:93819623..116887056 [GRCh38] Chr3:93538467..116605903 [GRCh37] Chr3:95021157..118088593 [NCBI36] Chr3:3q11.1-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 | copy number gain | See cases [RCV000134948] | Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 | copy number loss | See cases [RCV000135592] | Chr3:112465096..115774102 [GRCh38] Chr3:112183943..115492949 [GRCh37] Chr3:113666633..116975639 [NCBI36] Chr3:3q13.2-13.31 |
likely pathogenic |
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 | copy number loss | See cases [RCV000138186] | Chr3:97795369..115663349 [GRCh38] Chr3:97514213..115382196 [GRCh37] Chr3:98996903..116864886 [NCBI36] Chr3:3q11.2-13.31 |
pathogenic|uncertain significance |
GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 | copy number loss | See cases [RCV000138434] | Chr3:112465094..115774111 [GRCh38] Chr3:112183941..115492958 [GRCh37] Chr3:113666631..116975648 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 | copy number loss | See cases [RCV000139033] | Chr3:112620977..128734134 [GRCh38] Chr3:112339824..128452977 [GRCh37] Chr3:113822514..129935667 [NCBI36] Chr3:3q13.2-21.3 |
pathogenic |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 | copy number gain | See cases [RCV000142340] | Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 | copy number loss | See cases [RCV000142219] | Chr3:112425234..115795585 [GRCh38] Chr3:112144081..115514432 [GRCh37] Chr3:113626771..116997122 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 | copy number loss | See cases [RCV000142725] | Chr3:112520553..120031022 [GRCh38] Chr3:112239400..119749869 [GRCh37] Chr3:113722090..121232559 [NCBI36] Chr3:3q13.2-13.33 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)x1 | copy number loss | See cases [RCV000446223] | Chr3:112144081..115514432 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 | copy number loss | See cases [RCV000448410] | Chr3:105094834..117441953 [GRCh37] Chr3:3q13.11-13.32 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1 | copy number loss | See cases [RCV000511086] | Chr3:112590339..116461450 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 | copy number loss | not provided [RCV000682294] | Chr3:110645295..115103586 [GRCh37] Chr3:3q13.13-13.31 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 | copy number loss | not provided [RCV000682296] | Chr3:111894832..116930109 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_015412.4(NEPRO):c.1069T>A (p.Phe357Ile) | single nucleotide variant | Anauxetic dysplasia 3 [RCV001554510]|not provided [RCV004716778] | Chr3:113008337 [GRCh38] Chr3:112727184 [GRCh37] Chr3:3q13.2 |
benign |
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1 | copy number loss | not provided [RCV000856645] | Chr3:112183943..115492949 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3 | copy number gain | not provided [RCV000846844] | Chr3:111929014..112773945 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.976_978del | deletion | NEPRO-related disorder [RCV003910606]|not provided [RCV000892088] | Chr3:113008428..113008430 [GRCh38] Chr3:112727275..112727277 [GRCh37] Chr3:3q13.2 |
benign|likely benign |
GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3 | copy number gain | not provided [RCV000847080] | Chr3:111929014..112773945 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.397G>A (p.Glu133Lys) | single nucleotide variant | NEPRO-related disorder [RCV003926015]|not provided [RCV000954897] | Chr3:113013348 [GRCh38] Chr3:112732195 [GRCh37] Chr3:3q13.2 |
benign|likely benign |
NM_015412.4(NEPRO):c.889G>A (p.Val297Ile) | single nucleotide variant | not provided [RCV001532483] | Chr3:113011069 [GRCh38] Chr3:112729916 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_015412.4(NEPRO):c.280C>T (p.Arg94Cys) | single nucleotide variant | Anauxetic dysplasia 3 [RCV001089593] | Chr3:113014014 [GRCh38] Chr3:112732861 [GRCh37] Chr3:3q13.2 |
pathogenic|uncertain significance |
NM_015412.4(NEPRO):c.435G>C (p.Leu145Phe) | single nucleotide variant | Anauxetic dysplasia 3 [RCV001089594] | Chr3:113013310 [GRCh38] Chr3:112732157 [GRCh37] Chr3:3q13.2 |
pathogenic |
NM_015412.4(NEPRO):c.106+71G>A | single nucleotide variant | Anauxetic dysplasia 3 [RCV001554511]|not provided [RCV004716779] | Chr3:113019471 [GRCh38] Chr3:112738318 [GRCh37] Chr3:3q13.2 |
benign |
GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3 | copy number gain | not provided [RCV001259226] | Chr3:112135341..115509260 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
NM_015412.4(NEPRO):c.1529G>T (p.Gly510Val) | single nucleotide variant | Microcephaly [RCV001391282] | Chr3:113005711 [GRCh38] Chr3:112724558 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.1168G>A (p.Ala390Thr) | single nucleotide variant | Microcephaly [RCV001391283] | Chr3:113008238 [GRCh38] Chr3:112727085 [GRCh37] Chr3:3q13.2 |
uncertain significance |
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432) | copy number loss | not specified [RCV002053367] | Chr3:112144081..115514432 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696) | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV002280741] | Chr3:106598767..115704696 [GRCh37] Chr3:3q13.12-13.31 |
pathogenic |
GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1 | copy number loss | not provided [RCV002472579] | Chr3:107059705..115005256 [GRCh37] Chr3:3q13.12-13.31 |
pathogenic |
NM_015412.4(NEPRO):c.625G>A (p.Ala209Thr) | single nucleotide variant | not specified [RCV004102409] | Chr3:113011333 [GRCh38] Chr3:112730180 [GRCh37] Chr3:3q13.2 |
uncertain significance |
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003222552] | Chr3:110966195..115843176 [GRCh37] Chr3:3q13.13-13.31 |
pathogenic |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003327614] | Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1 | copy number loss | not provided [RCV003485398] | Chr3:110398276..113879363 [GRCh37] Chr3:3q13.13-13.31 |
uncertain significance |
GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3 | copy number gain | not provided [RCV003484141] | Chr3:111845309..112880225 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.1374G>A (p.Gln458=) | single nucleotide variant | NEPRO-related disorder [RCV003919185]|not provided [RCV003437944] | Chr3:113005866 [GRCh38] Chr3:112724713 [GRCh37] Chr3:3q13.2 |
benign |
NM_015412.4(NEPRO):c.1353del (p.Leu451fs) | deletion | NEPRO-related disorder [RCV003429059] | Chr3:113005887 [GRCh38] Chr3:112724734 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.84G>A (p.Val28=) | single nucleotide variant | NEPRO-related disorder [RCV003929131]|not provided [RCV003433698] | Chr3:113019564 [GRCh38] Chr3:112738411 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_015412.4(NEPRO):c.871G>A (p.Val291Met) | single nucleotide variant | NEPRO-related disorder [RCV003417138] | Chr3:113011087 [GRCh38] Chr3:112729934 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.*5T>C | single nucleotide variant | NEPRO-related disorder [RCV003924419] | Chr3:113005531 [GRCh38] Chr3:112724378 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_015412.4(NEPRO):c.1031C>A (p.Ser344Tyr) | single nucleotide variant | NEPRO-related disorder [RCV003979237] | Chr3:113008375 [GRCh38] Chr3:112727222 [GRCh37] Chr3:3q13.2 |
benign |
NM_015412.4(NEPRO):c.852G>C (p.Lys284Asn) | single nucleotide variant | NEPRO-related disorder [RCV003957399] | Chr3:113011106 [GRCh38] Chr3:112729953 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_015412.4(NEPRO):c.91C>T (p.Pro31Ser) | single nucleotide variant | NEPRO-related disorder [RCV003917059] | Chr3:113019557 [GRCh38] Chr3:112738404 [GRCh37] Chr3:3q13.2 |
benign |
NM_015412.4(NEPRO):c.243C>T (p.Pro81=) | single nucleotide variant | NEPRO-related disorder [RCV003954555] | Chr3:113017466 [GRCh38] Chr3:112736313 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_015412.4(NEPRO):c.921A>G (p.Ser307=) | single nucleotide variant | NEPRO-related disorder [RCV003916799] | Chr3:113010697 [GRCh38] Chr3:112729544 [GRCh37] Chr3:3q13.2 |
benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH46087 |
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SHGC-77207 |
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SHGC-32187 |
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RH92227 |
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RH65022 |
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SHGC-132456 |
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SHGC-148248 |
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SHGC-77208 |
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Cda1ac05 |
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RH44330 |
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WI-13462 |
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SHGC-33071 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
Ensembl Acc Id: | ENST00000314400 ⟹ ENSP00000320251 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000383675 ⟹ ENSP00000373173 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000460410 ⟹ ENSP00000419462 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000461381 ⟹ ENSP00000418309 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000462295 ⟹ ENSP00000417734 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000464816 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000469169 ⟹ ENSP00000417968 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000469809 ⟹ ENSP00000420577 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000470663 ⟹ ENSP00000420505 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000472166 ⟹ ENSP00000417613 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000472637 ⟹ ENSP00000419716 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000472705 ⟹ ENSP00000418677 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000472762 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000473284 ⟹ ENSP00000417983 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000474311 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000482229 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000486271 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000489848 ⟹ ENSP00000420471 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000491121 ⟹ ENSP00000418902 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000494164 ⟹ ENSP00000419174 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000494575 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000494891 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000496206 ⟹ ENSP00000420036 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000496340 ⟹ ENSP00000418133 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001319109 ⟹ NP_001306038 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001319110 ⟹ NP_001306039 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001319111 ⟹ NP_001306040 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001319112 ⟹ NP_001306041 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001319114 ⟹ NP_001306043 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001319115 ⟹ NP_001306044 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_015412 ⟹ NP_056227 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134969 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011512638 ⟹ XP_011510940 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017006102 ⟹ XP_016861591 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047447904 ⟹ XP_047303860 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047447905 ⟹ XP_047303861 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054346026 ⟹ XP_054202001 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054346027 ⟹ XP_054202002 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054346028 ⟹ XP_054202003 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_056227 ⟸ NM_015412 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9H7U0 (UniProtKB/Swiss-Prot), Q68DM6 (UniProtKB/Swiss-Prot), D3DN69 (UniProtKB/Swiss-Prot), Q9UFM4 (UniProtKB/Swiss-Prot), Q6NW34 (UniProtKB/Swiss-Prot), B4E228 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011510940 ⟸ XM_011512638 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B4DUV5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306039 ⟸ NM_001319110 |
- Peptide Label: | isoform e |
- UniProtKB: | B4DJ73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306041 ⟸ NM_001319112 |
- Peptide Label: | isoform g |
- UniProtKB: | B4DHL5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306040 ⟸ NM_001319111 |
- Peptide Label: | isoform f |
- UniProtKB: | B4DUV5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306044 ⟸ NM_001319115 |
- Peptide Label: | isoform c |
- UniProtKB: | B4E228 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306043 ⟸ NM_001319114 |
- Peptide Label: | isoform b |
- UniProtKB: | B4DVN9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306038 ⟸ NM_001319109 |
- Peptide Label: | isoform d |
- UniProtKB: | B4DJ73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016861591 ⟸ XM_017006102 |
- Peptide Label: | isoform X2 |
- Sequence: |
Ensembl Acc Id: | ENSP00000418902 ⟸ ENST00000491121 |
Ensembl Acc Id: | ENSP00000420577 ⟸ ENST00000469809 |
Ensembl Acc Id: | ENSP00000419174 ⟸ ENST00000494164 |
Ensembl Acc Id: | ENSP00000417968 ⟸ ENST00000469169 |
Ensembl Acc Id: | ENSP00000420036 ⟸ ENST00000496206 |
Ensembl Acc Id: | ENSP00000418133 ⟸ ENST00000496340 |
Ensembl Acc Id: | ENSP00000420505 ⟸ ENST00000470663 |
Ensembl Acc Id: | ENSP00000320251 ⟸ ENST00000314400 |
Ensembl Acc Id: | ENSP00000417613 ⟸ ENST00000472166 |
Ensembl Acc Id: | ENSP00000419716 ⟸ ENST00000472637 |
Ensembl Acc Id: | ENSP00000418677 ⟸ ENST00000472705 |
Ensembl Acc Id: | ENSP00000417983 ⟸ ENST00000473284 |
Ensembl Acc Id: | ENSP00000419462 ⟸ ENST00000460410 |
Ensembl Acc Id: | ENSP00000420471 ⟸ ENST00000489848 |
Ensembl Acc Id: | ENSP00000418309 ⟸ ENST00000461381 |
Ensembl Acc Id: | ENSP00000417734 ⟸ ENST00000462295 |
Ensembl Acc Id: | ENSP00000373173 ⟸ ENST00000383675 |
RefSeq Acc Id: | XP_047303860 ⟸ XM_047447904 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047303861 ⟸ XM_047447905 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054202001 ⟸ XM_054346026 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054202002 ⟸ XM_054346027 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054202003 ⟸ XM_054346028 |
- Peptide Label: | isoform X4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6NW34-F1-model_v2 | AlphaFold | Q6NW34 | 1-567 | view protein structure |
RGD ID: | 6865264 | ||||||||
Promoter ID: | EPDNEW_H5797 | ||||||||
Type: | initiation region | ||||||||
Name: | C3orf17_1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6800840 | ||||||||
Promoter ID: | HG_KWN:45842 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000314400, ENST00000383675, ENST00000393857, UC003DZT.1, UC010HQG.1, UC010HQH.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:24496 | AgrOrtholog |
COSMIC | NEPRO | COSMIC |
Ensembl Genes | ENSG00000163608 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000314400 | ENTREZGENE |
ENST00000314400.10 | UniProtKB/Swiss-Prot | |
ENST00000383675 | ENTREZGENE | |
ENST00000383675.6 | UniProtKB/Swiss-Prot | |
ENST00000460410.5 | UniProtKB/TrEMBL | |
ENST00000461381.5 | UniProtKB/TrEMBL | |
ENST00000462295.5 | UniProtKB/TrEMBL | |
ENST00000469169.5 | UniProtKB/TrEMBL | |
ENST00000469809.5 | UniProtKB/TrEMBL | |
ENST00000470663.1 | UniProtKB/TrEMBL | |
ENST00000472166.1 | UniProtKB/TrEMBL | |
ENST00000472637.5 | UniProtKB/TrEMBL | |
ENST00000472705.5 | UniProtKB/TrEMBL | |
ENST00000473284.5 | UniProtKB/TrEMBL | |
ENST00000486271 | ENTREZGENE | |
ENST00000489848.5 | UniProtKB/TrEMBL | |
ENST00000491121.1 | UniProtKB/TrEMBL | |
ENST00000494164.5 | UniProtKB/TrEMBL | |
ENST00000496206.5 | UniProtKB/TrEMBL | |
ENST00000496340.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000163608 | GTEx |
HGNC ID | HGNC:24496 | ENTREZGENE |
Human Proteome Map | NEPRO | Human Proteome Map |
InterPro | DUF4477 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Nepro-associated | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:25871 | UniProtKB/Swiss-Prot |
NCBI Gene | 25871 | ENTREZGENE |
OMIM | 617089 | OMIM |
PANTHER | NUCLEOLUS AND NEURAL PROGENITOR PROTEIN | UniProtKB/Swiss-Prot |
NUCLEOLUS AND NEURAL PROGENITOR PROTEIN | UniProtKB/Swiss-Prot | |
NUCLEOLUS AND NEURAL PROGENITOR PROTEIN | UniProtKB/TrEMBL | |
NUCLEOLUS AND NEURAL PROGENITOR PROTEIN | UniProtKB/TrEMBL | |
Pfam | DUF4477 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134948355 | PharmGKB |
UniProt | B4DHL5 | ENTREZGENE, UniProtKB/TrEMBL |
B4DJ73 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DUV5 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DVN9 | ENTREZGENE, UniProtKB/TrEMBL | |
B4E228 | ENTREZGENE, UniProtKB/TrEMBL | |
C9J9E3_HUMAN | UniProtKB/TrEMBL | |
D3DN69 | ENTREZGENE | |
E9PFF8_HUMAN | UniProtKB/TrEMBL | |
F2Z3E4_HUMAN | UniProtKB/TrEMBL | |
F8WBQ8_HUMAN | UniProtKB/TrEMBL | |
F8WC60_HUMAN | UniProtKB/TrEMBL | |
F8WDL7_HUMAN | UniProtKB/TrEMBL | |
NEPRO_HUMAN | UniProtKB/Swiss-Prot | |
Q68DM6 | ENTREZGENE | |
Q6NW34 | ENTREZGENE | |
Q9H7U0 | ENTREZGENE | |
Q9UFM4 | ENTREZGENE | |
UniProt Secondary | D3DN69 | UniProtKB/Swiss-Prot |
Q68DM6 | UniProtKB/Swiss-Prot | |
Q9H7U0 | UniProtKB/Swiss-Prot | |
Q9UFM4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-05-24 | NEPRO | nucleolus and neural progenitor protein | C3orf17 | chromosome 3 open reading frame 17 | Symbol and/or name change | 5135510 | APPROVED |