| General information of RDP00312 | |
|---|---|
| Gene Symbol: | PABPN1 |
| RefSeq ID: | NM_004643 |
| Repeat coordinate: | chr14:23321473-23321491 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 1.000; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAA |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Oculopharyngeal muscular dystrophy, 164300 (3) | 602279 | 14q11.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Muscular Dystrophy, Oculopharyngeal | NM_004643 | 0.90 | 3 | 0 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
23321473
7366
GCGGCGGCGGCGGCGGCG
.
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
23321471
rs568987300
TGGC
T,TGGCGGC
36081.49
14
23321480
.
C
T
575.61
14
23321481
.
G
A
274.96
14
23321483
.
C
T
81.44
14
23321490
.
GGCA
AGCA,GGCAGCA,G
3372.27
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
23321471
rs568987300
TGGC
T,TGGCGGCGGCGGC,TGGCGGC,TGGCGGCGGC
24030.82
14
23321480
.
C
T
115.54
14
23321485
.
G
A
183.65
14
23321487
.
G
GGCGGCA
190.53
14
23321490
.
GGCA
GGCAGCA,G
6151.71
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
23321471
rs779280662
TGGC
T
.
14
23321489
.
C
T
.