ConVarT

PSIP1 (GeneID: 11168) | Homo sapiens

Description:	PC4 and SFRS1 interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:9527]
Synonyms:	p75, DFS70, PSIP2, p52, PAIP, LEDGF
Other ID(s):	ENSG00000164985, HGNC:9527
Protein Accession Numbers:	NP_001121689, ENST00000380738, ENST00000380715, NP_001304829, ENST00000481862, ENST00000380733, NP_150091, NP_001304827, ENST00000397519, ENST00000380716, NP_066967
Statistics:	gnomAD(59)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Missense Variant

Stop Gained

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000380715 ENST00000380716 ENST00000380733 ENST00000380738 ENST00000397519 ENST00000481862 NP_001121689 NP_001304827 NP_001304829 NP_066967 NP_150091

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
9-15471104-A-C	ENST00000481862	p.Leu64Val	Missense Variant	0	0	0	rs747873113
9-15471104-A-G	ENST00000481862	p.Leu64Leu	Synonymous Variant	1	31360	0.000032	rs747873113
9-15471106-G-A	ENST00000481862	p.Ser63Leu	Missense Variant	0	0	0	rs757538288
9-15471108-GTC-G	ENST00000481862	p.Asp62LeufsTer21	Frameshift Variant	0	0	0	rs1241904359	lc_lof
9-15471110-CTG-C	ENST00000481862	p.Thr61ArgfsTer22	Frameshift Variant	0	0	0	rs780130450	lc_lof
9-15471114-A-C	ENST00000481862	p.Asp60Glu	Missense Variant	4	31344	0.000128	rs781662044
9-15471117-A-G	ENST00000481862	p.Leu59Leu	Synonymous Variant	0	0	0	rs746354017
9-15471119-G-C	ENST00000481862	p.Leu59Val	Missense Variant	0	0	0	rs770286123
9-15471130-CTT-C	ENST00000481862	p.Asp56Ter	Frameshift Variant	1	31354	0.000032	rs749309831	lc_lof
9-15471131-T-G	ENST00000481862	p.Arg55Arg	Synonymous Variant	0	0	0	rs780047319
9-15471132-T-C	ENST00000481862	p.Thr54Thr	Synonymous Variant	0	0	0	rs749397139
9-15471133-G-GT	ENST00000481862	p.Thr54AsnfsTer4	Frameshift Variant	0	0	0	rs1284865624	lc_lof
9-15471137-G-A	ENST00000481862	p.Gln53Ter	Stop Gained	0	0	0	rs768830319
9-15471137-G-C	ENST00000481862	p.Gln53Glu	Missense Variant	0	0	0	rs768830319
9-15471137-G-T	ENST00000481862	p.Gln53Lys	Missense Variant	0	0	0	rs768830319
9-15471138-C-A	ENST00000481862	p.Glu52Asp	Missense Variant	0	0	0	rs1244112739
9-15471138-C-T	ENST00000481862	p.Glu52Glu	Synonymous Variant	1	31360	0.000032	rs1244112739
9-15471142-A-T	ENST00000481862	p.Val51Glu	Missense Variant	1	31360	0.000032	rs762536342
9-15471144-T-C	ENST00000481862	p.Gln50Gln	Synonymous Variant	0	0	0	rs762147748
9-15471145-T-C	ENST00000481862	p.Gln50Arg	Missense Variant	0	0	0	rs1354095208

Showing 1 to 20 of 59 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00855	PWWP	PWWP domain	8-89	CL0049	Tudor	Mus musculus
PF11467	LEDGF	Lens epithelium-derived growth factor (LEDGF)	347-448			Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.555	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.555	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.555	0.655
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data