[ensembl-dev] Possible error in calculating pSyntax for cSyntax

S Venkata Suresh Kumar suresh.surampudi at india.semanticbits.com
Mon Mar 5 07:40:45 GMT 2012


For cSyntax NM_030786.2:c.1445_1447dupTTT, VEP is calculating pSyntax as
NP_110413.2.1:p.Val482_X483insPheextX16, which is incorrect. Correct one
is NP_110413.2.1:p.Val482_X483insPheextX1.

VCF record for this variant is:
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
1	33147452	26	t	taaa	29	Pass	DP=154



calculated out put from VEP for this variant:

#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
1	33147452	26	t	taaa	29	Pass
DP=154;CSQ=AAA|CCDS44105.1|CCDS44105.1|Transcript|DOWNSTREAM||||||||,AAA|CCDS367.2|CCDS367.2|Transcript|NON_SYNONYMOUS_CODING&SYNONYMOUS_CODING|1447-1448|1447-1448|483|*/F*|tag/tTTTag||CCDS367.2:c.1445_1447dupTTT|CCDS367.2.1:p.Val482_X483insPheextX,AAA|ENSESTG00000001282|ENSESTT00000003076|Transcript|DOWNSTREAM||||||||,AAA|5928|NM_001135255.1|Transcript|3PRIME_UTR|3580-3581||||||NM_001135255.1:c.*2146_*2147insAAA|,AAA|5928|NM_001135256.1|Transcript|3PRIME_UTR|3483-3484||||||NM_001135256.1:c.*2146_*2147insAAA|,AAA|ENSESTG00000001282|ENSESTT00000003082|Transcript|DOWNSTREAM||||||||,AAA|ENSESTG00000001282|ENSESTT00000003089|Transcript|DOWNSTREAM||||||||,AAA|5928|NM_005610.2|Transcript|3PRIME_UTR|3583-3584||||||NM_005610.2:c.*2146_*2147insAAA|,AAA|ENSESTG00000001967|ENSESTT00000004911|Transcript|DOWNSTREAM||||||||,AAA|CCDS53294.1|CCDS53294.1|Transcript|NON_SYNONYMOUS_CODING|1367-1368|1367-1368|456|L/FL|tta/ttTTTa||CCDS53294.1:c.1365_1367dupTTT|CCDS53294.1.1:p.Cys455_Leu456insPhe,AAA|ENSES
TG00000001967|ENSESTT00000004908|Transcript|NON_SYNONYMOUS_CODING&SYNONYMOUS_CODING|622-623|454-455|152|*/F*|tag/tTTTag||ENSESTT00000004908.1:c.452_454dupTTT|ENSESTP00000004908.1:p.Val151_X152insPheextX16,AAA|81493|NM_001161708.1|Transcript|NON_SYNONYMOUS_CODING|1467-1468|1367-1368|456|L/FL|tta/ttTTTa||NM_001161708.1:c.1365_1367dupTTT|NP_001155180.1.1:p.Cys455_Leu456insPhe,AAA|81493|NM_030786.2|Transcript|NON_SYNONYMOUS_CODING&SYNONYMOUS_CODING|1547-1548|1447-1448|483|*/F*|tag/tTTTag||NM_030786.2:c.1445_1447dupTTT|NP_110413.2.1:p.Val482_X483insPheextX16,AAA|CCDS44106.1|CCDS44106.1|Transcript|DOWNSTREAM||||||||,AAA|CCDS366.1|CCDS366.1|Transcript|DOWNSTREAM||||||||

-- 
Regards
vs




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