SHH

NameSynonymsFull NameRefSeq IDDescription (.pdf)IGV-img (humangenome)Sashimi-img (humangenome)UCSC-img (humangenome)IGV-img (batgenome)
SHH HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS sonic hedgehog NM_000193 pdf

Download all snapshots for IGV, UCSC and Sashimi (zip archive)

Description

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. The gene is upregulated in human EBOV. The first 3'UTR exon is extended to the second one (which are annotated as being alternative). No homologs in bat were found.

Show legend

Maximum read counts and DESeq normalized read counts for human and bat cell lines

Source Species Mapping on Mock3h Mock7h Mock23h EBOV3h EBOV7h EBOV23h MARV3h MARV7h MARV23h
Read_Max
humanH. sapiensGenome23 26 40 13 24 62 38 33 14
Read_Max
batR. aegyptiacusTranscriptome NA NA NA NA NA NA NA NA NA
Read_Max
bat_genomeR. aegyptiacusGenome 0 0 0 0 0 0 0 3 2
DESeq
humanH. sapiensGenome 167.43 225.37 186.66 161.84 146.52 454.99 201.0 180.05 188.02
DESeq
batR. aegyptiacusTranscriptome NA NA NA NA NA NA NA NA NA
DESeq
bat_genomeR. aegyptiacusGenome 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.17 1.71

Human Condition Comparisons

human Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 167.43 161.84 201.0 -0.05 0.26 0.31
7h 225.37 146.52 180.05 -0.62 -0.32 0.3
23h 186.66 454.99 188.02 1.29 0.01 -1.27

Human Time Point Comparisons

human 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 167.43 225.37 186.66 0.43 0.16 -0.27
Ebov 161.84 146.52 454.99 -0.14 1.49 1.63
Marv 201.0 180.05 188.02 -0.16 -0.1 0.06

Bat Condition Comparisons

bat Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h NA NA NA NA NA NA
7h NA NA NA NA NA NA
23h NA NA NA NA NA NA

Bat Time Point Comparisons

bat 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock NA NA NA NA NA NA
Ebov NA NA NA NA NA NA
Marv NA NA NA NA NA NA