HsaINT0048965 @ hg19

Intron Retention

Gene

ENSG00000104936 | DMPK

Description

dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]

Coordinates

chr19:46274608-46274923:-

Coord C1 exon

chr19:46274826-46274923

Coord A exon

chr19:46274655-46274825

Coord C2 exon

chr19:46274608-46274654

Length

171 bp

Sequences

Splice sites

5' ss Seq

CAGGTGAGT

5' ss Score

10.67

3' ss Seq

CCTCTTTCTTCTCCTTCCAGCTG

3' ss Score

12

Exon sequences

Seq C1 exon

TCAACTACGCGAGGCAGAGGCTCGGAACCGGGACCTAGAGGCACACGTCCGGCAGTTGCAGGAGCGGATGGAGTTGCTGCAGGCAGAGGGAGCCACAG

Seq A exon

GTGAGTCCCTCATGTGTCCCCTTCCCCGGAGGACCGGGAGGAGGTGGGCCGTCTGCTCCGCGGGGCGTGTATAGACACCTGGAGGAGGGAAGGGACCCACGCTGGGGCACGCCGCGCCACCGCCCTCCTTCGCCCCTCCACGCGCCCTATGCCTCTTTCTTCTCCTTCCAG

Seq C2 exon

CTGTCACGGGGGTCCCCAGTCCCCGGGCCACGGATCCACCTTCCCAT

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000104936-DMPK:NM_004409:12

Average complexity

IR-S

Mappability confidence:

NA

Protein Impact

ORF disruption upon sequence inclusion

No structure available

Features

Disorder rate (Iupred):

C1=0.765 A=NA C2=1.000

Domain overlap (PFAM):

C1:

PF104814=CENP-F_N=PD(27.2=82.4),PF041569=IncA=FE(31.4=100),PF136001=DUF4140=FE(34.0=100),PF0126119=AP_endonuc_2=FE(28.0=100),PF093045=Cortex-I_coil=PD(39.2=91.2),PF102674=Tmemb_cc2=FE(32.0=100),PF0157614=Myosin_tail_1=FE(34.7=100),PF032458=Phage_lysis=FE(31.4=100),PF154781=LKAAEAR=PD(34.8=94.1),PF060097=Laminin_II=FE(39.8=100),PF088265=DMPK_coil=PD(47.5=85.3),PF139491=ALIX_LYPXL_bnd=FE(33.3=100)

A:

NA

C2:

PF041569=IncA=PD(0.9=6.2),PF0126119=AP_endonuc_2=FE(12.9=100),PF032458=Phage_lysis=FE(14.7=100),PF139491=ALIX_LYPXL_bnd=FE(16.0=100)

Main Inclusion Isoform:

NA

Main Skipping Isoform:

ENSP00000345997