IFIT1

Chr 10

interferon induced protein with tetratricopeptide repeats 1

Also known as: C56, G10P1, IFI-56, IFI-56K, IFI56, IFIT-1, IFNAI1, ISG56

This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]

OMIMResearchGenerating clinical summary…
3
Active trials
130
Pubs (1 yr)
P/LP submissions
P/LP missense
1.53
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.000
Z-score 0.54
OE 0.79 (0.431.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.33Z-score
OE missense 0.94 (0.841.05)
234 obs / 248.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.431.53)
00.351.4
Missense OE?0.94 (0.841.05)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 6 / 7.6Missense obs/exp: 234 / 248.9Syn Z: -0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IFIT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.