| General information of RDP00359 | |
|---|---|
| Gene Symbol: | MCC |
| RefSeq ID: | NM_001085377 |
| Repeat coordinate: | chr5:113488352-113488370 (-) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.636; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGG |
| 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 |
| Colorectal cancer, somatic, 114500 (3) | 159350 | 5q22.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Intellectual Disability | NM_001085377 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
113488351
~rs72442525
TGCC
TGCCGCTGCCGCC,T,TGCCGCC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
113488326
rs764503434
TCGCTGCTGCTGCTGCTGCTGCCGCTGCCGCCGCCGCCGCCGC
TCGCTGCCGCCGCCGCCGCCGC,T
3731.20
5
113488351
rs866497026
TGCC
T,TGCCGCC,TGCCGCCGCC,CGCC,TGCCGCTGCCGCC,TGCCGCCGCCGCC
30818854.66
5
113488352
.
GCCGCCGCCGCCGCCGCCGCTGCTGGAGCTCC
G
521609.76
5
113488354
rs72442525
CGCCGCCGCCGCCGCCGCTGCT
TGCCGCCGCCGCCGCCGCTGCT,CGCTGCCGCCGCCGCCGCCGCTGCT,C
232577.56
5
113488355
.
G
GCCA,A
9870.83
5
113488356
.
C
CTG
9589.19
5
113488357
rs199741976
C
T,CCGCT
106488.99
5
113488358
.
G
T
6246.86
5
113488360
rs775217972
C
T
9241.10
5
113488362
rs768925565
C
CCGT
4346.65
5
113488363
rs200586056
CGCCGCCGCTGCTGGAGCTCCCCGCAGCCGCTGCCGCCGCG
TGCCGCCGCTGCTGGAGCTCCCCGCAGCCGCTGCCGCCGCG,C,CGCCGCCGCTGCCGCCGCTGCTGGAGCTCCCCGCAGCCGCTGCCGCCGCG
30221.05
5
113488365
.
C
CTG
4435.49
5
113488366
rs557773424
CGCCGCT
TGCCGCT,C,CTGCTGCCGCT
9346.89
5
113488367
rs774687710
G
GCCA
4140.44
5
113488368
.
C
CCGG,T
4385.34
5
113488369
rs374189535
CGCTGCTGGAGCTCCCCGCAGCCGCT
CGCTGCTGCTGGAGCTCCCCGCAGCCGCT,TGCTGCTGGAGCTCCCCGCAGCCGCT,CGCTGGAGCTCCCCGCAGCCGCT,C
9799.22
5
113488370
rs761173618
GCTGCTGGAGCTCC
G
5992.67
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
113488351
rs866497026
TGCC
TGCCGCC,TGCCGCTGCCGCC,CGCC,T,TGCCGCCGCC,TGCCGCCGCCGCTGCCGCTGCCGCTGCCGCC
7406608.97
5
113488354
rs72442525
CGCCGCCGCCGCCGCCGCTGCT
C
23429.26
5
113488355
.
G
T
857.54
5
113488357
rs199741976
C
T
4811.61
5
113488365
.
C
T
855.62
5
113488366
rs557773424
C
CGCCGCCGCCGCT
1479.38
5
113488368
.
C
T
855.63
5
113488369
rs374189535
C
CGCT
1523.85
5
113488370
rs761173618
G
GCCA
2835.04
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
113488339
rs776626799
TGCTGCTGCCGCTGCCGCCGCCGCCGCC
T
.
5
113488351
.
TGCC
CGCC,T,TGCCGCC,TGCCGCCGCC,TGCCGCCGCCGCC,TGCCGCTGCCGCC
.
5
113488351
rs780898825
TGCC
T,TGCCGCC
.
5
113488354
rs72442525
C
CGCT
.
5
113488354
rs775655073
CGCCGCCGCCGCCGCCGCTGCT
C
.
5
113488357
rs199741976
C
T
.
5
113488360
rs775217972
C
T
.
5
113488360
rs749368157
CGCCGCCGCCGCT
C
.
5
113488362
rs768925565
C
CCGT
.
5
113488363
rs200586056
C
T
.
5
113488366
rs557773424
C
A,T
.
5
113488367
rs774687710
G
GCCA
.
5
113488369
rs374189535
C
T
.
5
113488369
rs767876356
C
CGCT
.
5
113488369
rs761993749
CGCT
C
.
5
113488370
rs761173618
G
GCCA
.
5
113488370
rs773484226
GCTGCTGGAGCTCC
G
.