HsaINT0048963 @ hg19

Intron Retention

Gene

ENSG00000104936 | DMPK

Description

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

Coordinates

chr19:46275029-46276010:-

Coord C1 exon

chr19:46275899-46276010

Coord A exon

chr19:46275187-46275898

Coord C2 exon

chr19:46275029-46275186

Length

712 bp

Sequences

Splice sites

5' ss Seq

ACAGTAAGT

5' ss Score

9.49

3' ss Seq

AGCCTGGTCCCCATACACAGGCT

3' ss Score

4.68

Exon sequences

Seq C1 exon

GGACAGTGAGGTCCCAGGCCCCACACCCATGGAACTGGAGGCCGAGCAGCTGCTTGAGCCACACGTGCAAGCGCCCAGCCTGGAGCCCTCGGTGTCCCCACAGGATGAAACA

Seq A exon

GTAAGTTGGTGGAGGGGAGGGGGTCCGTCAGGGACAATTGGGAGAGAAAAGGTGAGGGCTTCCCGGGTGGCGTGCACTGTAGAGCCCTCTAGGGACTTCCTGAACAGAAGCAGACAGAAACCACGGAGAGACGAGGTTACTTCAGACATGGGACGGTCTCTGTAGTTACAGTGGGGCATTAAGTAAGGGTGTGTGTGTTGCTGGGGATCTGAGAAGTCGATCTTTGAGCTGAGCGCTGGTGAAGGAGAAACAAGCCATGGAAGGAAAGGTGCCAAGTGGTCAGGCGAGAGCCTCCAGGGCAAAGGCCTTGGGCAGGTGGGAATCCTGATTTGTTCCTGAAAGGTAGTTTGGCTGAATCATTCCTGAGAAGGCTGGAGAGGCCAGCAGGAAACAAAACCCAGCAAGGCCTTTTGTCGTGAGGGCATTAGGGAGCTGGAGGGATTTTGAGCAGCAGAGGGACATAGGTTGTGTTAGTGTTTGAGCACCAGCCCTCTGGTCCCTGTGTAGATTTAGAGGACCAGACTCAGGGATGGGGCTGAGGGAGGTAGGGAAGGGAGGGGGCTTGGATCATTGCAGGAGCTATGGGGATTCCAGAAATGTTGAGGGGACGGAGGAGTAGGGGATAAACAAGGATTCCTAGCCTGGAACCAGTGCCCAAGTCCTGAGTCTTCCAGGAGCCACAGGCAGCCTTAAGCCTGGTCCCCATACACAG

Seq C2 exon

GCTGAAGTGGCAGTTCCAGCGGCTGTCCCTGCGGCAGAGGCTGAGGCCGAGGTGACGCTGCGGGAGCTCCAGGAAGCCCTGGAGGAGGAGGTGCTCACCCGGCAGAGCCTGAGCCGGGAGATGGAGGCCATCCGCACGGACAACCAGAACTTCGCCAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000104936-DMPK:NM_004409:10

Average complexity

IR-S

Mappability confidence:

NA

Protein Impact

ORF disruption upon sequence inclusion

No structure available

Features

Disorder rate (Iupred):

C1=0.947 A=NA C2=0.955

Domain overlap (PFAM):

C1:

PF104814=CENP-F_N=PU(20.4=87.5),PF041569=IncA=PU(15.2=66.7),PF136001=DUF4140=PU(6.2=25.0),PF0126119=AP_endonuc_2=PU(0.8=4.2),PF102674=Tmemb_cc2=PU(15.5=66.7),PF0157614=Myosin_tail_1=PU(8.4=33.3),PF154781=LKAAEAR=PU(6.5=25.0)

A:

NA

C2:

PF104814=CENP-F_N=FE(50.5=100),PF041569=IncA=FE(49.5=100),PF136001=DUF4140=FE(53.6=100),PF0126119=AP_endonuc_2=FE(44.1=100),PF093045=Cortex-I_coil=PU(59.5=88.7),PF102674=Tmemb_cc2=FE(50.5=100),PF0157614=Myosin_tail_1=FE(54.7=100),PF032458=Phage_lysis=PU(40.0=79.2),PF154781=LKAAEAR=FE(56.5=100),PF060097=Laminin_II=PU(57.8=90.6),PF088265=DMPK_coil=PU(50.8=58.5),PF139491=ALIX_LYPXL_bnd=PU(44.4=83.0)

Main Inclusion Isoform:

NA

Main Skipping Isoform:

ENSP00000345997