Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | NDEL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | NDEL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. | Lipska BK, etal., Hum Mol Genet. 2006 Apr 15;15(8):1245-58. Epub 2006 Mar 1. |
3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
4. | MGD IEA | MGD IEA |
5. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
6. | Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth. | Ozeki Y, etal., Proc Natl Acad Sci U S A 2003 Jan 7;100(1):289-94. |
7. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11163259 | PMID:11163260 | PMID:11231056 | PMID:11517264 | PMID:12477932 | PMID:12520002 | PMID:12796778 |
PMID:12904583 | PMID:12950100 | PMID:14610273 | PMID:14681479 | PMID:14962739 | PMID:15147871 | PMID:15208636 | PMID:15473966 | PMID:15473967 | PMID:15489334 | PMID:15782199 | PMID:15797709 |
PMID:16107726 | PMID:16141072 | PMID:16141073 | PMID:16203747 | PMID:16944949 | PMID:16959763 | PMID:17060449 | PMID:17825401 | PMID:17997972 | PMID:18331715 | PMID:18431495 | PMID:18799693 |
PMID:18809722 | PMID:18973680 | PMID:18983980 | PMID:19521566 | PMID:19668197 | PMID:19927128 | PMID:20007476 | PMID:20624590 | PMID:21092859 | PMID:21267068 | PMID:21282465 | PMID:21423666 |
PMID:21677750 | PMID:21844209 | PMID:21873635 | PMID:21948775 | PMID:22114287 | PMID:22875938 | PMID:24030547 | PMID:24194600 | PMID:24680936 | PMID:24785679 | PMID:24812355 | PMID:24952961 |
PMID:25186760 | PMID:25698733 | PMID:26496610 | PMID:26844830 | PMID:27298008 | PMID:27307241 | PMID:27371763 | PMID:27777970 | PMID:27889896 | PMID:28057765 | PMID:29961565 | PMID:32325033 |
PMID:32423231 | PMID:33615226 | PMID:34133714 | PMID:34319758 | PMID:35011575 |
Ndel1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Ndel1
1077 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
Ndel1 |
|
|||||||||||||||
Ndel1 |
|
RefSeq Transcripts | NM_001363304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001363305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_023668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030246442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF290472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF323918 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK011168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK146029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK162541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK179603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK181571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK183399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK187960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK194070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK198280 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK208425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK212133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK212511 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK218669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL603662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC021434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC046796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY124052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ092278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000018880 ⟹ ENSMUSP00000018880 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000101017 ⟹ ENSMUSP00000098579 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000108672 ⟹ ENSMUSP00000104312 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000127469 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000143899 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000144300 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001363304 ⟹ NP_001350233 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363305 ⟹ NP_001350234 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_023668 ⟹ NP_076157 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_030246442 ⟹ XP_030102302 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
Protein RefSeqs | NP_001350233 | (Get FASTA) | NCBI Sequence Viewer |
NP_001350234 | (Get FASTA) | NCBI Sequence Viewer | |
NP_076157 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030102302 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAG10061 | (Get FASTA) | NCBI Sequence Viewer |
AAG42496 | (Get FASTA) | NCBI Sequence Viewer | |
AAH21434 | (Get FASTA) | NCBI Sequence Viewer | |
AAH46796 | (Get FASTA) | NCBI Sequence Viewer | |
BAB27443 | (Get FASTA) | NCBI Sequence Viewer | |
EDL10454 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000018880 | ||
ENSMUSP00000018880.8 | |||
ENSMUSP00000098579.3 | |||
ENSMUSP00000104312.2 | |||
GenBank Protein | Q9ERR1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_076157 ⟸ NM_023668 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9D0Q4 (UniProtKB/Swiss-Prot), Q9EPT6 (UniProtKB/Swiss-Prot), Q9ERR1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_030102302 ⟸ XM_030246442 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9ERR1 (UniProtKB/Swiss-Prot), Q9D0Q4 (UniProtKB/Swiss-Prot), Q9EPT6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001350234 ⟸ NM_001363305 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001350233 ⟸ NM_001363304 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | ENSMUSP00000098579 ⟸ ENSMUST00000101017 |
RefSeq Acc Id: | ENSMUSP00000104312 ⟸ ENSMUST00000108672 |
RefSeq Acc Id: | ENSMUSP00000018880 ⟸ ENSMUST00000018880 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9ERR1-F1-model_v2 | AlphaFold | Q9ERR1 | 1-345 | view protein structure |
RGD ID: | 6821406 | ||||||||
Promoter ID: | MM_KWN:7995 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney, Liver | ||||||||
Transcripts: | OTTMUST00000013286 | ||||||||
Position: |
|
RGD ID: | 6821407 | ||||||||
Promoter ID: | MM_KWN:7996 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | OTTMUST00000013283, UC007JOD.1, UC007JOE.1 | ||||||||
Position: |
|
RGD ID: | 8675118 | ||||||||
Promoter ID: | EPDNEW_M15589 | ||||||||
Type: | initiation region | ||||||||
Name: | Ndel1_1 | ||||||||
Description: | Mus musculus nudE neurodevelopment protein 1 like 1 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M15590 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | MGI:1932915 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000018736 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENSMUST00000018880 | ENTREZGENE |
ENSMUST00000018880.14 | UniProtKB/Swiss-Prot | |
ENSMUST00000101017.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000108672.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 6.10.250.1080 | UniProtKB/Swiss-Prot |
InterPro | NUDE | UniProtKB/Swiss-Prot |
NUDE_dom | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:83431 | UniProtKB/Swiss-Prot |
MGD | MGI:1932915 | ENTREZGENE |
NCBI Gene | 83431 | ENTREZGENE |
PANTHER | PTHR10921 | UniProtKB/Swiss-Prot |
PTHR10921:SF0 | UniProtKB/Swiss-Prot | |
Pfam | NUDE_C | UniProtKB/Swiss-Prot |
PhenoGen | Ndel1 | PhenoGen |
UniProt | NDEL1_MOUSE | UniProtKB/Swiss-Prot |
Q9D0Q4 | ENTREZGENE | |
Q9EPT6 | ENTREZGENE | |
Q9ERR1 | ENTREZGENE | |
UniProt Secondary | Q9D0Q4 | UniProtKB/Swiss-Prot |
Q9EPT6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-29 | Ndel1 | nudE neurodevelopment protein 1 like 1 | nuclear distribution gene E-like homolog 1 (A. nidulans) | Symbol and/or name change | 5135510 | APPROVED |