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Gene Gene information from NCBI Gene database.
Entrez ID 25901
Gene name Coiled-coil domain containing 28A
Gene symbol CCDC28A
Synonyms (NCBI Gene)
C6orf80CCRL1APLTAP2A
Chromosome 6
Chromosome location 6q24.1
Summary This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucle
miRNA miRNA information provided by mirtarbase database.
52 Show/Hide all (52)
miRTarBase ID miRNA Experiments Reference
MIRT016608 hsa-miR-193b-3p Microarray 20304954
MIRT022982 hsa-miR-124-3p Microarray 18668037
MIRT030003 hsa-miR-26b-5p Microarray 19088304
MIRT868775 hsa-miR-1236 CLIP-seq
MIRT868776 hsa-miR-15a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615353 21098 ENSG00000024862
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWP9
Protein name Coiled-coil domain-containing protein 28A (CCRL1AP)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13270 DUF4061 173 → 258 Domain of unknown function (DUF4061) Family
Sequence
MPRAEPRATLGEQEKAGLPLGAWRLYLLRHFRKQTELRRSGSRDVTGALLVAAAVASEAV
GSLRVAEGGPNTLLLQVLRSWPWCNKELKTMEERKVKRRSPKSFSAHCTQVVNAKKNAIP
VSKSTGFSNPASQSTSQRPKLKRVMKEKTKPQGGEGKGAQSTPIQHSFLTDVSDVQEMER
GLLSLLNDFHSGKLQAFGNECSIEQMEHVRGMQEKLARLNLELYGELEELPEDKRKTASD
SNLDRLLSDLEELNSSIQ
KLHLADAQDVPNTSAS
Sequence length 274
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Myoepithelial tumor Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (9)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 22058212
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 16028218
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Myeloid Leukemia Acute Myeloid Leukemia BEFREE 16028218
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder BEFREE 22058212
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35352485 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 31648321, 34343258 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Myeloid Leukemia Myeloid Leukemia BEFREE 16028218
★★★★★
★☆☆☆☆
Found in Text Mining only
Myeloproliferative disease Myeloproliferative disorder BEFREE 22058212
★★★★★
★☆☆☆☆
Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Lymphoblastic Leukemia BEFREE 16467868
★★★★★
★☆☆☆☆
Found in Text Mining only