Special

HsaINT1028181 @ hg38

Intron Retention

Gene
Description
proline rich transmembrane protein 1 [Source:HGNC Symbol;Acc:HGNC:13943]
Coordinates
chr6:32149537-32150583:-
Coord C1 exon
chr6:32150368-32150583
Coord A exon
chr6:32149723-32150367
Coord C2 exon
chr6:32149537-32149722
Length
645 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
3' ss Seq
CCCCAAATTTCCTTCCACAGCCA
3' ss Score
8.24
Exon sequences
Seq C1 exon
GAGACTCGCTTCGAGGGCCCACTTCCCCCGCCGCCGCCCGCTGCCGCCGCCCCGCCCCCGCCGGCGCCAGCCCAGACTGCCCAGGCCCCTGGCTTCGTGGTGCCCACGCACGCGGGGACTGTGGGCACGCTGCCGCTGGGGGGCTACGTAGCGCCCGGATACCCCCTGCAGCTGCAGCCTTGCACTGCTTACGTGCCGGTCTACCCGGTGGGCACG
Seq A exon
GTGAGTGCCGGGCAGACAGGGACATGGGAAAGAGGGGGACGCGATACAGGACTTGAAATTGGGGATACGCTGGGGGCTGGTAGGATAGAGGAACAAGGGCAGGGAACAGGTAGTGTTCCCGGGACAAGCCCTAGAAAGAAGGGAGCCTGAGACAGGAAGGACTAGGGAGAGACACGGGAGTAGGAGTCTACTGGTGCCCAGAGTCAGGGCCTGGGAGGGGGATCGGAGCCTAGAGGTTCAGAGGAGGTCTGAAAGTAGGAAACCGCCTGGCGGGGGACGGGGGGAATGGAAGCTGGGAACCAAGAGGGATGTGGGAGAAGCCTGGGACTAAGGGGGTAGGGGAGGCCTGGTAGGTGTCTGGAGGGAAGAAAGAAGGTCTGACCTGAGGCCAGGACAGCCCCAGTGGGACCATACCTTGCGGGAGAGAATGTAGAAAGCCCAAGAATATGGTGGTTAATGAAGCAAGGAAGGGAGGAGAGGGGCTTAGGTGGAATTTATGGGTGTCCTGGAAGGGTAATGGGTGCTTTATTTTGAGAAGCCATAGGTAAAAATTGTGCTTTTAAAGCCACTCTGCCAGCCGCCCAACGCTGGTAGGCTGGGAGAGGGTCAGAGTGATGCCCCTGCCCCCCAAATTTCCTTCCACAG
Seq C2 exon
CCATATGCAGGCGGGACCCCGGGGGGAACAGGAGTGACCTCCACTCTCCCCCCGCCGCCCCAGGGCCCAGGGCTGGCCCTACTGGAGCCGAGGCGCCCGCCACACGACTACATGCCCATCGCGGTGCTGACCACCATCTGTTGCTTCTGGCCTACTGGCATCATTGCCATCTTCAAGGCCGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204314:ENST00000375150:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.680 A=NA C2=0.403
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF045057=Dispanin=PU(54.4=79.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCGAGGGCCCACTTCCC
R:
AAGCAACAGATGGTGGTCAGC
Band lengths:
353-998
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains