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This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA... See more...
Aliases for ASCC1 Gene
Aliases for ASCC1 Gene
External Ids for ASCC1 Gene
- HGNC: 24268
- Entrez Gene: 51008
- Ensembl: ENSG00000138303
- OMIM: 614215
- UniProtKB: Q8N9N2
Previous GeneCards Identifiers for ASCC1 Gene
- GC10M073201
- GC10M073526
- GC10M073856
- GC10M067850
Summaries for ASCC1 Gene
-
This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for ASCC1 Gene
ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1) is a Protein Coding gene. Diseases associated with ASCC1 include Spinal Muscular Atrophy With Congenital Bone Fractures 2 and Barrett Esophagus. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.
UniProtKB/Swiss-Prot Summary for ASCC1 Gene
-
Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.
Additional gene information for ASCC1 Gene
- HGNC(24268)
- Entrez Gene(51008)
- Ensembl(ENSG00000138303)
- OMIM(614215)
- UniProtKB(Q8N9N2)
- Open Targets Platform(ENSG00000138303)
- Monarch Initiative
- Search for ASCC1 at DataMed
- Search for ASCC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASCC1 Gene
Genomics for ASCC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ASCC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ASCC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASCC1
- Top Transcription factor binding sites by QIAGEN in the ASCC1 gene promoter:
-
- AhR
- AREB6
- Arnt
- Meis-1
- Meis-1a
- NRSF form 1
- NRSF form 2
- SRY
- TBP
- TFIID
Genomic Locations for ASCC1 Gene
Genomic Locations for ASCC1 Gene
- chr10:72,096,032-72,218,777
- (GRCh38/hg38)
- Size:
- 122,746 bases
- Orientation:
- Minus strand
- chr10:73,856,274-73,976,892
- (GRCh37/hg19)
- Size:
- 120,619 bases
- Orientation:
- Minus strand
Genomic View for ASCC1 Gene
Genes around ASCC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q22.1 by HGNC
- 10q22.1 by Entrez Gene
- 10q22.1 by Ensembl
ASCC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASCC1 Gene
Proteins for ASCC1 Gene
-
Protein details for ASCC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N9N2-ASCC1_HUMAN
- Recommended name:
- Activating signal cointegrator 1 complex subunit 1
- Protein Accession:
- Q8N9N2
- Q5SW06
- Q5SW07
- Q96EI8
- Q9Y307
Protein attributes for ASCC1 Gene
- Size:
- 400 amino acids
- Molecular mass:
- 45509 Da
- Quaternary structure:
-
- Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:29144457, PubMed:29997253). Interacts directly with ASCC3 (PubMed:29997253). The ASCC complex interacts with ALKBH3 (PubMed:29144457, PubMed:22055184). Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347). Interacts with CSRP1 (PubMed:26924529). Interacts with ZCCHC4 (PubMed:31799605).
Protein Expression for ASCC1 Gene
Post-translational modifications for ASCC1 Gene
Other Protein References for ASCC1 Gene
- ENSEMBL proteins:
-
- ENSP00000500935
- ENSP00000320810
- ENSP00000339404
- ENSP00000431299
- ENSP00000499820
- ENSP00000500488
- ENSP00000500906
- ENSP00000500771
- ENSP00000436409
- ENSP00000500074
- ENSP00000320461
- ENSP00000435147
- ENSP00000436098
- ENSP00000435191
- ENSP00000431255
- ENSP00000432418
- ENSP00000431573
- ENSP00000434468
- ENSP00000431419
- ENSP00000500137
- ENSP00000431746
- ENSP00000378373
- ENSP00000378377
- REFSEQ proteins:
-
- XP_024303800.1
- NP_001185727.1
- NP_001185728.1
- NP_001185729.1
- NP_001356014.1
- NP_001356015.1
- NP_001356016.1
- NP_001356017.1
- NP_001356018.1
- NP_001356019.1
- NP_001356020.1
- NP_001356021.1
- NP_001356022.1
- NP_001356023.1
- NP_001356024.1
- NP_001356025.1
- NP_001356026.1
- NP_001356027.1
- NP_001356028.1
- NP_001356029.1
- NP_001356030.1
- NP_001356031.1
- NP_001356032.1
- NP_001356033.1
- NP_001356034.1
- NP_001356035.1
- NP_001356036.1
- NP_001356037.1
- NP_001356038.1
- NP_001356039.1
- NP_001356040.1
- NP_001356041.1
Antibody Products
- Creative Diagnostics Anti-ASCC1 monoclonal antibody, clone 7H6
- Creative Biolabs Mouse Anti-ASCC1 Recombinant Antibody (1E2) and Mouse Anti-ASCC1 Recombinant Antibody (2D7)
- Novus Biologicals Antibodies for ASCC1
-
Abcam antibodies for ASCC1
- Invitrogen Antibodies for ASCC1 (AFLGC-Ascc1)
-
Biorbyt antibodies for ASCC1
-
Boster Bio Antibodies for ASCC1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ASCC1
- Origene Custom Protein Services for ASCC1
- ProSpec Recombinant Proteins for ASCC1
- antibodies-online: Show 6 available ASCC1 Proteins ranked by validation data
- Compare Top ASCC1 Proteins
-
Quality Products:
-
Signalway Proteins for ASCC1
-
Abcam proteins for ASCC1
Assay Products
No data available for DME Specific Peptides for ASCC1 Gene
Domains & Families for ASCC1 Gene
Gene Families for ASCC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ASCC1 Gene
- InterPro:
- Blocks:
-
- KH domain
- KH, type 1
- ProtoNet:
Suggested Antigen Peptide Sequences for ASCC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Trip4 complex subunit p50 (ASCC1_HUMAN)
- cDNA FLJ39090 fis, clone NT2RP7019445, highly similar to Activating signal cointegrator 1 complex subunit 1 (B3KU20_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASCC1 Gene
Function for ASCC1 Gene
Molecular function for ASCC1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.
Phenotypes From GWAS Catalog for ASCC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for ASCC1 Gene
- MGI mutant phenotypes for ASCC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ASCC1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASCC1 - Select products 50% OFF >
- * ASCC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ASCC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASCC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASCC1
miRNA for ASCC1 Gene
- miRTarBase miRNAs that target ASCC1
-
- hsa-miR-1287-3p (MIRT446496)
- hsa-miR-4524b-5p (MIRT446497)
- hsa-miR-4524a-5p (MIRT446498)
- hsa-miR-335-5p (MIRT446499)
- hsa-miR-646 (MIRT446500)
- hsa-miR-503-5p (MIRT446501)
- hsa-miR-6838-5p (MIRT446502)
- hsa-miR-497-5p (MIRT446503)
- hsa-miR-424-5p (MIRT446504)
- hsa-miR-195-5p (MIRT446505)
- hsa-miR-16-5p (MIRT446506)
- hsa-miR-15b-5p (MIRT446507)
- hsa-miR-15a-5p (MIRT446508)
- hsa-miR-451b (MIRT446509)
- hsa-miR-543 (MIRT446510)
- hsa-miR-3941 (MIRT615722)
- hsa-miR-603 (MIRT615723)
- hsa-miR-362-3p (MIRT615724)
- hsa-miR-329-3p (MIRT615725)
- hsa-miR-8485 (MIRT615726)
- hsa-miR-944 (MIRT615727)
- hsa-miR-8054 (MIRT615728)
- hsa-miR-548k (MIRT615729)
- hsa-miR-548av-5p (MIRT615730)
- hsa-miR-548n (MIRT615731)
- hsa-miR-6840-3p (MIRT714018)
- hsa-miR-500b-3p (MIRT714019)
- hsa-miR-224-5p (MIRT714020)
- hsa-miR-6776-3p (MIRT714021)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASCC1
- Browse OriGene Inhibitory RNA Products For ASCC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASCC1
Clone Products
- Applied Biological Materials (abm): Clones for ASCC1 - Select products 50% OFF >
- * ASCC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ASCC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASCC1
Cell Line Products
-
Horizon Cell Lines for ASCC1
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ASCC1 Gene
Localization for ASCC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ASCC1 Gene
- Nucleus. Nucleus speckle. Note=Colocalizes with PRPF8 in nuclear speckles in the absence of DNA damage. {ECO:0000269 PubMed:29997253}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 12077347 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IDA | 12077347 |
| GO:0016607 | nuclear speck | IEA | -- |
| GO:0031594 | neuromuscular junction | IMP | 26924529 |
Pathways & Interactions for ASCC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Damage Reversal | ||
| 2 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for ASCC1 Gene
4 Reactome pathways for ASCC1 Gene
Interacting Proteins for ASCC1 Gene
Selected Interacting proteins:
Q8N9N2-ASCC1_HUMAN
ENSP00000339404
for ASCC1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ASCC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006307 | DNA dealkylation involved in DNA repair | TAS | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IDA | 12077347 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
No data available for SIGNOR curated interactions for ASCC1 Gene
Transcripts for ASCC1 Gene
mRNA/cDNA for ASCC1 Gene
- 32 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000672957 2479 nts (view in UCSC)
- ENST00000672809 1228 nts (view in UCSC)
- ENST00000317168 1816 nts (view in UCSC)
- ENST00000342444 2270 nts (view in UCSC)
- ENST00000534259 2422 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASCC1 - Select products 50% OFF >
- * ASCC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ASCC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASCC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASCC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASCC1
- Browse OriGene Inhibitory RNA Products For ASCC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASCC1
Clone Products
- Applied Biological Materials (abm): Clones for ASCC1 - Select products 50% OFF >
- * ASCC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ASCC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASCC1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||
| SP4: | - | - |
Relevant External Links for ASCC1 Gene
- GeneLoc Exon Structure for
- ASCC1
Expression for ASCC1 Gene
This gene is overexpressed in Lung (25.4), CD8 Tcells (7.7), Placenta (7.1), and Testis (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASCC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASCC1
SOURCE GeneReport for Unigene cluster for ASCC1 Gene:
Hs.500007mRNA Expression by UniProt/SwissProt for ASCC1 Gene:
Q8N9N2-ASCC1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for ASCC1 Gene
- Nervous system(4.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCC1 Gene
Germ Layers:
- ectoderm
- endoderm
Systems:
- digestive
- nervous
Regions:
Head and neck:
- brain
- head
Thorax:
- esophagus
Abdomen:
- stomach
Primer Products
-
OriGene qPCR primer pairs for ASCC1
-
OriGene qPCR primer pairs and template standards for ASCC1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ASCC1 Gene
Orthologs for ASCC1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ASCC1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ASCC1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ASCC1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ascc1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ascc1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ASCC1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ASCC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ASCC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ascc1 30 |
|
||
| Str.20363 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | ascc1 30 |
|
||
| ASCC1 31 |
|
OneToOne | |||
| Dr.16673 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007571 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG12129 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | C23H3.3 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G16230 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0231900 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for ASCC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ASCC1 Gene
- ENSEMBL:
- Gene Tree for ASCC1 (if available)
- TreeFam:
- Gene Tree for ASCC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ASCC1: view image
Paralogs for ASCC1 Gene
(35) SIMAP similar genes for ASCC1 Gene using alignment to 13 proteins:
- ASCC1_HUMAN
- E9PJM2_HUMAN
- E9PKM6_HUMAN
- E9PL92_HUMAN
- E9PM82_HUMAN
- E9PQ44_HUMAN
- E9PQZ6_HUMAN
- E9PR40_HUMAN
- F5H874_HUMAN
- H0YCB3_HUMAN
- H0YE76_HUMAN
- H0YE79_HUMAN
- H0YER2_HUMAN
No data available for Paralogs for ASCC1 Gene
Variants for ASCC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASCC1 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 619021 | Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita; Spinal muscular atrophy with congenital bone fractures 2; Pena-Shokeir syndrome type I | 72,161,537(-) | C/T | SPLICE_DONOR_VARIANT | |
| 711061 | Likely Benign: not provided | 72,102,875(-) | T/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 711537 | Benign: not provided | 72,128,128(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 712097 | Likely Benign: not provided | 72,128,097(-) | G/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 714485 | Conflicting Interpretations: not provided | 72,213,192(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv154e199 | CNV | deletion | 23128226 |
| dgv477n106 | CNV | tandem duplication | 24896259 |
| esv24033 | CNV | loss | 19812545 |
| esv2667465 | CNV | deletion | 23128226 |
| esv2670261 | CNV | deletion | 23128226 |
| esv2671699 | CNV | deletion | 23128226 |
| esv2738385 | CNV | deletion | 23290073 |
| esv3623791 | CNV | loss | 21293372 |
| esv3623792 | CNV | loss | 21293372 |
| esv3623794 | CNV | loss | 21293372 |
| esv3891857 | CNV | loss | 25118596 |
| nsv1069497 | CNV | deletion | 25765185 |
| nsv1126259 | CNV | deletion | 24896259 |
| nsv1145468 | CNV | deletion | 24896259 |
| nsv1161975 | CNV | duplication | 26073780 |
| nsv442192 | CNV | loss | 18776908 |
| nsv508592 | CNV | deletion | 20534489 |
| nsv551513 | CNV | loss | 21841781 |
| nsv948062 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.60;
78.12% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ASCC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCC1 Gene
Disorders for ASCC1 Gene
(17) MalaCards diseases for ASCC1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinal muscular atrophy with congenital bone fractures 2 |
|
|
| barrett esophagus |
|
|
| prenatal-onset spinal muscular atrophy with congenital bone fractures |
|
|
| arthrogryposis, distal, type 1a |
|
|
| fetal akinesia deformation sequence 1 |
|
|
Search ASCC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ASCC1_HUMAN- Barrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. {ECO:0000269 PubMed:21791690}. Note=The gene represented in this entry may be involved in disease pathogenesis.
- Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) [MIM:616867]: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. {ECO:0000269 PubMed:26924529}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ASCC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ASCC1 Gene
Publications for ASCC1 Gene
- Novel transcription coactivator complex containing activating signal cointegrator 1. (PMID: 12077347) Jung DJ … Lee YC (Molecular and cellular biology 2002) 2 3 4
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
- RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage. (PMID: 29997253) Soll JM … Mosammaparast N (The Journal of biological chemistry 2018) 3 4
- Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. (PMID: 26924529) Knierim E … Schuelke M (American journal of human genetics 2016) 3 4
- Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. (PMID: 21791690) Orloff M … Eng C (JAMA 2011) 3 4
ExternalLinks
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