| General information of RDP00260 | |
|---|---|
| Gene Symbol: | ASCL1 |
| RefSeq ID: | NM_004316 |
| Repeat coordinate: | chr12:102958394-102958430 (+) |
| Repeat size: | 12 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.145; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQQ |
| 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 |
| Haddad syndrome, 209880 (3) | 100790 | 12q23.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Intellectual Disability | NM_004316 | 0.40 | 1 | 0 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
102958393
227179
CGCA
C
.
12
102958393
259285
CGCAGCAGCA
C
.
12
102958393
259284
CGCAGCAGCAGCA
C
.
12
102958393
193277
CGCAGCAGCAGCAGCA
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
102958395
~rs72405287
CA
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
102958395
.
C
CAGA
5119849.17
12
102958399
.
A
G
794824.81
12
102958402
rs771394839
A
AGCAGCAGCAGCAGCAGCAGCC,C
312430.58
12
102958405
rs774568605
A
AGCAGCAGCAGCAGCAGCC,AGCG
171860.76
12
102958413
.
C
CAGG
25777.06
12
102958425
rs763766575
C
CAGCAGCAGG
1613.61
12
102958427
.
G
GCAT
610.35
12
102958429
rs575082298
AGGCGCC
AGCC,A,TGGCGCC,AGCAGCTGGCGCC,AGCAGCAGCTGGCGCC
71923
12
102958430
rs727502892
G
GCA
10386.78
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
102958393
rs3832799
CGCAGCAGCA
CGCAGCA,CGCAGCAGCAGCA,CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCA,C
6626688.76
12
102958401
.
C
T
155799.76
12
102958402
rs771394839
A
AGCAGCAGCAGCAGCAGCAGCC,AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCC
171533.66
12
102958403
.
G
A
111419.31
12
102958404
.
C
CAGG
111406.98
12
102958425
rs763766575
C
CAGCAGCAGG
1637.17
12
102958429
rs575082298
A
T
841.36
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
102958393
rs754073921
CGCA
C,CGCAGCA
.
12
102958393
rs763302626
CGCAGCAGCA
C,CGCAGCA,CGCAGCAGCAGCA,CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCA
.
12
102958393
.
CGCAGCAGCAGCA
C
.
12
102958393
rs794726916
CGCAGCAGCAGCAGCA
C
.
12
102958393
.
CGCAGCAGCAGCAGCAGCAGCA
C
.
12
102958402
rs771394839
A
AGCAGCAGCAGCAGCAGCAGCC
.
12
102958405
rs774568605
A
AGCAGCAGCAGCAGCAGCC,AGCG
.
12
102958412
rs72405287
G
GGCA
.
12
102958416
.
CA
GC
.
12
102958420
.
A
C
.
12
102958422
.
CA
AA
.
12
102958425
rs763766575
C
CAGCAGG
.
12
102958428
.
C
A
.
12
102958429
rs575082298
A
T
.
12
102958429
rs71438488
A
AGCAGCT,AGCA
.
12
102958429
rs776216632
AGGC
A
.
12
102958430
rs727502892
G
GCAGCAGCAGCAGCAG,GCA
.