Gene Name	SHH
Gene ID	6469
Gene Full Name	sonic hedgehog signaling molecule
Gene Alias	HHG1|HLP3|HPE3|MCOPCB5|SMMCI|ShhNC|TPT|TPTPS
Transcripts	ENSG00000164690
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Intracellular and membrane;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q15465
HGNC ID	HGNC:10848
OMIM ID	600725
Summary	This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
5010607	chr7	6	11	0	17	View
5010608	chr7	6	10	0	16	View
5010690	chr7	4	4	0	8	View

Data ID	Experiment type	Sample number	Platform
C   GSE183048	Chip-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
E   TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE165883	RNA-seq	20	Illumina NextSeq 500 (Homo sapiens)

• Expression profiling
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.

> Dataset: TCGA_CESC - SHH expression across samples

Volcano Plot

Bar Plot