MmuEX6009970 @ mm10

Exon Skipping

Gene

ENSMUSG00000001249 | Hpn

Description

hepsin [Source:MGI Symbol;Acc:MGI:1196620]

Coordinates

chr7:31103500-31109192:-

Coord C1 exon

chr7:31109091-31109192

Coord A exon

chr7:31108965-31109006

Coord C2 exon

chr7:31103500-31103629

Length

42 bp

Sequences

Splice sites

3' ss Seq

CTGTTCTCCCCTCTCCACAGTGA

3' ss Score

11.37

5' ss Seq

AAGGTGAGT

5' ss Score

10.47

Exon sequences

Seq C1 exon

GTGGCCGGACTGCAGCATGCTGCTCCAGACCCAAGGTGGCAGCTCTCATTGTGGGTACCCTGCTGTTCCTGACAGGCATTGGGGCCGCGTCCTGGGCCATTG

Seq A exon

TGACCATCCTACTGCAGAGTGACCAGGAGCCACTGTACCAAG

Seq C2 exon

TGCAGCTCAGTCCAGGGGACTCACGGCTTGCGGTGTTTGACAAGACGGAGGGAACGTGGAGGCTACTGTGCTCCTCACGCTCCAATGCCAGGGTGGCAGGGCTCGGCTGTGAGGAGATGGGCTTTCTCAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSMUSG00000001249-'11-16,'11-14,12-16

Average complexity

S

Mappability confidence:

100%=100=100%

Protein Impact

Alternative protein isoforms (Ref)

No structure available

Features

Disorder rate (Iupred):

C1=0.048 A=0.000 C2=0.000

Domain overlap (PFAM):

C1:

NO

A:

PF092725=Hepsin-SRCR=PU(3.6=26.7)

C2:

PF092725=Hepsin-SRCR=FE(39.1=100)

Main Inclusion Isoform:

ENSMUSP00000038149

Main Skipping Isoform:

NA

Other Inclusion Isoforms:

ENSMUSP00000103737, ENSMUSP00000131658, ENSMUSP00000145624

Other Skipping Isoforms:

NA

Associated events

MmuEX0023217

Other assemblies

mm9

Conservation

Human

(hg38)

chr19:35049475-35049516

HIGH PSI

HsaEX0030402

(HPN)

Human

(hg19)

chr19:35540379-35540420

HIGH PSI

HsaEX0030402

(HPN)

Rat

(rn6)

No conservation detected

Cow

(bosTau6)

chr18:45979308-45979349

HIGH PSI

BtaEX0017371

(HPN)

Chicken

(galGal4)

No conservation detected

Chicken

(galGal3)

No conservation detected

Zebrafish

(danRer10)

chr16:45306726-45306767

HIGH PSI

DreEX6042678

(HPN)

Fruitfly

(dm6)

No conservation detected

Primers PCR

Suggestions for RT-PCR validation

F:

GGCAGCTCTCATTGTGGGTAC

R:

GCACAGTAGCCTCCACGTTC

Band lengths:

136-178

Functional annotations

(Submit an annotation)

There are 1 annotated functions for this event

PMID: 15627507

HsaEX0030402

Both exons together encode a transmembrane domain and cause cytosolic retention when skipped. Hepsin/-TM (skipping) overexpression does not affect the growth of a human cancer cell line.

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS

Ribosome-engaged transcriptomes of neuronal types
Neural differentiation time course
Muscular differentiation time course
Spermatogenesis cell types
Reprogramming of fibroblasts to iPSCs
Hematopoietic precursors and cell types

Special

MmuEX6009970 @ mm10

GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]

SPECIAL DATASETS