Gene table of ASCL1 : achaete-scute family bHLH transcription factor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ASCL1	OMIM link	Number of associated genes	genes
209880	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	ClinVar, OMIM	link to OMIM	6	ASCL1, GDNF, EDN3, BDNF, PHOX2B, RET

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Annotation of the gene ASCL1

Associated genes in ENSEMBL

ENSG00000139352

Associated proteins - SwissProt Accession ID

P50553

Associated PDB IDs

Cytogenetic Band

12q23.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
bHLH transcription factor binding	GO:0043425	6.41
E-box binding	GO:0070888	6.21
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001078	5.08
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
identical protein binding	GO:0042802	2.63
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
protein homodimerization activity	GO:0042803	3.16
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
transcription regulatory region DNA binding	GO:0044212	3.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001227	4.61
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
protein dimerization activity	GO:0046983	2.72
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65