Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Sass6 | Mouse | primary autosomal recessive microcephaly 14 | | ISO | SASS6 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Sass6 | Mouse | primary autosomal recessive microcephaly 14 | | ISO | SASS6 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | MGDs mouse GO annotations | MGD data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:15489334 | PMID:16141072 | PMID:16141073 |
PMID:17576815 | PMID:18799693 | PMID:20360068 | PMID:21267068 | PMID:21873635 | PMID:22349705 | PMID:24075808 | PMID:24421332 | PMID:26410627 | PMID:26496610 | PMID:33798452 | PMID:36973253 |
PMID:37890489 | PMID:38407237 |
Sass6 (Mus musculus - house mouse) |
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SASS6 (Homo sapiens - human) |
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Sass6 (Rattus norvegicus - Norway rat) |
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Sass6 (Chinchilla lanigera - long-tailed chinchilla) |
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SASS6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SASS6 (Canis lupus familiaris - dog) |
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Sass6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SASS6 (Sus scrofa - pig) |
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SASS6 (Chlorocebus sabaeus - green monkey) |
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Sass6 (Heterocephalus glaber - naked mole-rat) |
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Variants in Sass6
1352 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 |
RefSeq Transcripts | NM_001289568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001289571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_028349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006502140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006502141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036163351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC131038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK013338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK145076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK161849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK162883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK165224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BB617231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC050110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ174648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000029571 ⟹ ENSMUSP00000029571 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000196619 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000197063 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000197335 ⟹ ENSMUSP00000143123 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000198311 ⟹ ENSMUSP00000143233 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000198386 ⟹ ENSMUSP00000143175 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000198514 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000198747 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001289568 ⟹ NP_001276497 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001289571 ⟹ NP_001276500 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_028349 ⟹ NP_082625 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006502140 ⟹ XP_006502203 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006502141 ⟹ XP_006502204 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036163351 ⟹ XP_036019244 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001276497 | (Get FASTA) | NCBI Sequence Viewer |
NP_001276500 | (Get FASTA) | NCBI Sequence Viewer | |
NP_082625 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006502203 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006502204 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036019244 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH50110 | (Get FASTA) | NCBI Sequence Viewer |
BAB28799 | (Get FASTA) | NCBI Sequence Viewer | |
BAE26225 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12374 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12375 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12376 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000029571.10 | ||
ENSMUSP00000143123 | |||
ENSMUSP00000143123.2 | |||
ENSMUSP00000143175 | |||
ENSMUSP00000143175.2 | |||
ENSMUSP00000143233 | |||
ENSMUSP00000143233.2 | |||
GenBank Protein | Q80UK7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_082625 ⟸ NM_028349 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9CYT4 (UniProtKB/Swiss-Prot), Q80UK7 (UniProtKB/Swiss-Prot), Q3UM73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006502203 ⟸ XM_006502140 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q3UM73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006502204 ⟸ XM_006502141 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q3UM73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001276497 ⟸ NM_001289568 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q3UM73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001276500 ⟸ NM_001289571 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A0G2JFC9 (UniProtKB/TrEMBL), Q3UM73 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSMUSP00000143175 ⟸ ENSMUST00000198386 |
Ensembl Acc Id: | ENSMUSP00000143233 ⟸ ENSMUST00000198311 |
Ensembl Acc Id: | ENSMUSP00000143123 ⟸ ENSMUST00000197335 |
Ensembl Acc Id: | ENSMUSP00000029571 ⟸ ENSMUST00000029571 |
RefSeq Acc Id: | XP_036019244 ⟸ XM_036163351 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q3UM73 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q80UK7-F1-model_v2 | AlphaFold | Q80UK7 | 1-654 | view protein structure |
RGD ID: | 6882178 | ||||||||
Promoter ID: | EPDNEW_M4540 | ||||||||
Type: | initiation region | ||||||||
Name: | Sass6_1 | ||||||||
Description: | Mus musculus SAS-6 centriolar assembly protein , transcript variant2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M4541 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6882180 | ||||||||
Promoter ID: | EPDNEW_M4541 | ||||||||
Type: | initiation region | ||||||||
Name: | Sass6_2 | ||||||||
Description: | Mus musculus SAS-6 centriolar assembly protein , transcript variant2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M4540 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1920026 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000027959 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000029571.13 | UniProtKB/TrEMBL |
ENSMUST00000197335 | ENTREZGENE | |
ENSMUST00000197335.2 | UniProtKB/TrEMBL | |
ENSMUST00000198311 | ENTREZGENE | |
ENSMUST00000198311.5 | UniProtKB/Swiss-Prot | |
ENSMUST00000198386 | ENTREZGENE | |
ENSMUST00000198386.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.287.1490 | UniProtKB/TrEMBL |
2.170.210.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | SAS-6_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SAS-6_N_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAS6_CC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:72776 | UniProtKB/Swiss-Prot |
MGD | MGI:1920026 | ENTREZGENE |
NCBI Gene | 72776 | ENTREZGENE |
PANTHER | SPINDLE ASSEMBLY ABNORMAL PROTEIN 6 HOMOLOG | UniProtKB/Swiss-Prot |
SPINDLE ASSEMBLY ABNORMAL PROTEIN 6 HOMOLOG | UniProtKB/Swiss-Prot | |
SPINDLE ASSEMBLY ABNORMAL PROTEIN 6 HOMOLOG | UniProtKB/TrEMBL | |
SPINDLE ASSEMBLY ABNORMAL PROTEIN 6 HOMOLOG | UniProtKB/TrEMBL | |
Pfam | SAS-6_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sas6_CC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Sass6 | PhenoGen |
UniProt | A0A0G2JFC9 | ENTREZGENE, UniProtKB/TrEMBL |
A0A140T8I7_MOUSE | UniProtKB/TrEMBL | |
Q3UM73 | ENTREZGENE, UniProtKB/TrEMBL | |
Q80UK7 | ENTREZGENE | |
Q9CYT4 | ENTREZGENE | |
SAS6_MOUSE | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q9CYT4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-29 | Sass6 | SAS-6 centriolar assembly protein | spindle assembly 6 homolog (C. elegans) | Symbol and/or name change | 5135510 | APPROVED |