FAM111A FAM111 trypsin like peptidase A

Information
Symbol
FAM111A
Type
protein-coding
Description
FAM111 trypsin like peptidase A
Entrez Gene ID
63901
Genome
hg19
Position
chr11:58,910,221-58,922,512
Genome
hg38
Position
chr11:59,142,748-59,155,039
MIM
615292 OMIM
HGNC
HGNC:24725 HGNC
Ensembl
ENSG00000166801 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 6
Likely pathogenic 0 12
Benign 0 86
Likely benign 0 150
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 236
Ranking
ClinVar
0
0
58
406
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM GCLEB
SYNONYM KCS2
MIM 615292 OMIM
HGNC HGNC:24725 HGNC
Ensembl ENSG00000166801 Ensembl
AllianceGenome HGNC:24725
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000675163.1 hg38 chr11 59,142,856 59,155,039 12,184
ENST00000676340.1 hg38 chr11 59,142,911 59,154,988 12,078
ENST00000529985.3 hg38 chr11 59,142,860 59,153,504 10,645
ENST00000684135.1 hg38 chr11 59,142,858 59,153,504 10,647
ENST00000528737.5 hg38 chr11 59,142,748 59,155,039 12,292
ENST00000361723.7 hg38 chr11 59,144,779 59,155,036 10,258
ENST00000531147.1 hg38 chr11 59,148,245 59,155,036 6,792
ENST00000676459.1 hg38 chr11 59,142,849 59,154,728 11,880
ENST00000527629.6 hg38 chr11 59,144,779 59,153,504 8,726
ENST00000531408.6 hg38 chr11 59,144,799 59,153,504 8,706
ENST00000533703.1 hg38 chr11 59,145,063 59,155,039 9,977
ENST00000675806.2 hg38 chr11 59,142,859 59,153,504 10,646
ENST00000420244.6 hg38 chr11 59,144,862 59,155,036 10,175
ENST00000682018.1 hg38 chr11 59,142,859 59,153,504 10,646
ENST00000674617.1 hg38 chr11 59,142,916 59,155,024 12,109
ENST00000528737.5 hg19 chr11 58,910,221 58,922,512 12,292
ENST00000676340.1 hg19 chr11 58,910,384 58,922,461 12,078
ENST00000531147.1 hg19 chr11 58,915,718 58,922,509 6,792
ENST00000675163.1 hg19 chr11 58,910,329 58,922,512 12,184
ENST00000420244.6 hg19 chr11 58,912,335 58,922,509 10,175
ENST00000533703.1 hg19 chr11 58,912,536 58,922,512 9,977
ENST00000675806.2 hg19 chr11 58,910,332 58,920,977 10,646
ENST00000529985.3 hg19 chr11 58,910,333 58,920,977 10,645
ENST00000361723.7 hg19 chr11 58,912,252 58,922,509 10,258
ENST00000527629.6 hg19 chr11 58,912,252 58,920,977 8,726
ENST00000531408.6 hg19 chr11 58,912,272 58,920,977 8,706
ENST00000674617.1 hg19 chr11 58,910,389 58,922,497 12,109
ENST00000676459.1 hg19 chr11 58,910,322 58,922,201 11,880
ENST00000682018.1 hg19 chr11 58,910,332 58,920,977 10,646
ENST00000684135.1 hg19 chr11 58,910,331 58,920,977 10,647
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