AutismKB 2.0

Evidence Details for FAM173B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM173B ( FLJ20667 )
Gene Full Name: family with sequence similarity 173, member B
Band: 5p15.2
Quick LinksEntrez ID:134145; OMIM: NA; Uniprot ID:F173B_HUMAN; ENSEMBL ID: ENSG00000150756; HGNC ID: 27029
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM173B|134145|nucleotide
ATGGAGGGAGGAGGAGGTATACCCCTAGAAACACTTAAAGAAGAAAGTCAGTCAAGACATGTTCTACCTGCAAGTTTTGAAGTCAACAGTTTGCAGAAAAGCAAC
TGGGGGTTCTTACTTACTGGGCTTGTGGGTGGCACCCTGGTGGCTGTGTACGCTGTAGCCACGCCGTTTGTAACGCCAGCCCTTCGAAAAGTCTGTTTGCCGTTT
GTACCTGCAACTACGAAGCAGATTGAAAATGTTGTGAAAATGTTGCGATGCCGAAGAGGATCCCTTGTGGACATCGGTAGTGGGGACGGACGCATTGTCATAGCG
GCTGCGAAGAAAGGGTTCACAGCAGTTGGTTATGAATTAAACCCATGGCTAGTTTGGTATTCCAGATACCGCGCTTGGCGAGAAGGTGTGCATGGATCTGCCAAA
TTTTATATTTCAGATTTGTGGAAGGTTACTTTTTCGCAGTACTCGAACGTTGTTATTTTCGGTGTGCCTCAGATGATGCTGCAGTTGGAGAAGAAACTTGAACGT
GAACTTGAGGATGATGCACGAGTTATTGCTTGCCGGTTCCCTTTCCCACATTGGACTCCAGACCACGTCACGGGGGAGGGGATAGACACAGTGTGGGCATATGAT
GCAAGCACTTTTAGAGGCCGTGAAAAGAGGCCCTGTACATCGATGCATTTCCAGCTGCCCATTCAAGCATAA




Show »

>FAM173B|134145|protein
MEGGGGIPLETLKEESQSRHVLPASFEVNSLQKSNWGFLLTGLVGGTLVAVYAVATPFVTPALRKVCLPFVPATTKQIENVVKMLRCRRGSLVDIGSGDGRIVIA
AAKKGFTAVGYELNPWLVWYSRYRAWREGVHGSAKFYISDLWKVTFSQYSNVVIFGVPQMMLQLEKKLERELEDDARVIACRFPFPHWTPDHVTGEGIDTVWAYD
ASTFRGREKRPCTSMHFQLPIQA


Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Harvard, 2005 - aCGHASD 1 - 1 - 2 - 2
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018